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_21800
This mutation occurs in RLBP1 (retinaldehyde binding protein 1) on Chromosome 15. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Autosomal recessive retinitis pigmentosa
ATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAGCTTGTTATTTATGTTTAATATTATCCCCAAAACATACTCCTAATATTTCTCCTAAAGCTAGACAAATTAATTCTGAAGATCATAGGGGGAAATAAACATGCAAAAGTAGCTAGAAAAGCCCCCCAAAAAGCAGATCACTAAGGACAAAACTAGCCCTAACAGATTAAACATGCCACAAAATCTCTATCATCGAAACAGTATGATATTGGAGTATGAATAGATAAAGAGACCAATGGAACAGAATAGAAAGTCCAGAAATAGACCAAGCACATACGAAAATATAAAACATGATAAAGATGGCATTTCAAGTCATTGAAAAAAGATGGACTTTTTAATAAATTGTGTTGGCACAACTAGATAGCATTATCTAAAATTAGTTTGGGCCAGGTGCGGTGTCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGCATGGTGGCGTGCGTCTGTAATCCCAGCTACTTGGAAGGCTGAGGCTTGAGGATCGCTCGAACCCAGGAGGCGGAGGTTGCAGTGAGCTAAGATCATGCCACTGCACTCCAGCCTGGGTGACCAGAGCGAGACTCCATCTCAAAAATAAATAAATAAAATAAAATAAGTTTGTAGCAGTTTTTTTTTTAAATTAAAGGAATCTTTTTCAGGCTCAGTGGCGCATGCCAAAGTTCTCCCAAGACAAACCCTAATTCCCCAACTTGGGGCAGCCCCCTTAACGGCTCAGACAAGCAAAATTGCGTACACAATTTTGCGAGCACAAAGAACTCGGGCTCCTAAATAGATTGGAACCTGTGCTTTCCAGAATCTCTTCCAGCCTATAGTCCACTAATCCCTGTTCTCTCTGTTGCTCTCAGCATTTAGCATGTGGCAGGGCAGCCCCCAGCTCATGGCACACAGCTGTTACCCCCACTTGGCACTTGGCAGGGATACCCAGGAAGAGCCATGTATTATTGACCATCAAGCTCCACCTGCAAAGCTACTGGGTTTTCCAGCTGCCCTGGCACATCCTAGGAATTCTCTCCCTGCCTGGAAAGGGCTAGGTGGCAGGTGGCTGCCCACCTTTCCCCCTCTACAGACCTTGCCTCCTGGAGAACCAGGAATGAGGGCCCAGTAGAGGCCAGGGTTGAGGGAGGGAACCCAGCCCACAGGGTGGGAGCCAGGCGAGCCCCCACTAACCTCATCAAAGGTGATTTCTTGACTTTGCCAGTTCTCAATGTTGAAGAGCATGACCACTCGGCCATACTTGTCCCGACTAGAGAGGACACCAGGGTAGCCAGCTTCAATGGTGCAGCGGACAGCCTCTGGGGACAGGCTGTCAAAGAGCTCAGGGTACTGCAGCCGGAAATTCACATAGCCTGGAGGAAGGAGAGCAGAGGAACCCCCTCAGGGAGCCATCCCATCCCTACCCCATCCCTCCTAGTGGGACTCAGAGACCTGACCTCCTGCCAGGTCCTATGTGTGACCGAGCTGGCTACTCAACCTATCCGAGCCCCATGTTTCCTCTCCAAAAAATGGGATCTCGATATTGACCTATCTATTCTAGATAGTCTAGATAGTGGCCTATCTCACCAAATTGTTGTGGCAATCAAATGAGATTCAAGGTGTAAACATCATCATAAGCTTGGGCAAACATGAGGCATAGTCTTAAATATGAGGATAATCATTACTTGTTATTTTCTTCCCCATGGGGACAAGACACAGATTTTTCAGCTGGGCACAGGATAAGCTGAGTGGTGAGGTGTGCACAGGGCTGAGGAGAAGCTCCCAAGTAAAATCCAAACCCCAAGCAGGACACAGAGCTCCTGATTCCAGCAGCACCTCTACGGTCCACAAACACCATCCTTACCCATCCTGAGCAGTTCCCCACCTCTGTGGCCTGCACCACCAAATTTGAGCCCCTAGAGGACCTGGGCACCTCTGCCAAGAGACTGCCACATCAACTTGCTCACTGCTCTGGAACACTCTGGGCACCTCCCAACCCCTGGCCTTTGTCTTTGCTGTTGCCTCTGCCCTGGCTGCTCTTCCCCACAGATATCTCATTTCCTTCGGGTTTTTCTTCAAAATTCCCTTTGCACTGGGACTTCCCTGGCCACTTTATCTAAAACTTCAGCCCCTCAAGACTTTATATCCACCTCCTTAATTTCTTTCCTTATTCCTTACCATTATTTAACCCTATATAATTTTACTTTATTTATTGGATGTATTGTTTCCACCATTAGAATATGAGTTCCACCAGGGCAGGGAACTTGTCTGTTTTGTCTCCACTGCATCCCTTGGCCTAAAACAGTTCTTGGCACAGCATGGCCCTGAATTACCATTTGGAGAAGGAAGAAGTAGGAAAAGGAAAATCATTAGCCTGCAGAGGGCCCACTCAGACCCCATTTCCGTCCACCAGTGCCCAAGATTCGATTTCTTGAGGGAACCACCCCCTTTTTTTTTTTCTTTCTTTCTTTTTTGAGATAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCGCAACCTCTGCCTCCTGCGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGAGATTACAGGCATGCGCCACCACGCCCGGCTAGTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCACGTTGGTCAGGCTGGTCTCAAACCCCCGACTTCAGATGATCTGCCCGCCTTGGCCTCGCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCAACCGGCCGATGATTTCTTGAGGCATCCTGTCTTCATCCAGCCAGCAGTGCCAGAGCGGTTCTGTCCCCGGGGTTCATTCCCAGGTCTGACACCATCTTCAGTTCCACTGCACATGAGGCTTAGGTAACTGCCCTGAGAGAGGCACTATCCACCTTCCTGCAGCATTCCAGAGCCAAAGCTTAGGTTCTCATGGTGGGGGTCTGGAGGGGAAATTCCTCCCCTCGTCACCCAAATGGGGTACCCAAGTTTTACTCATTGAATCCCAAGACTGGGAGAGAGTTGAGAGGACTCAGACCTCCAGAAATCTGCTCCTGACACACTTCATTCATTCATTCGTTCGCTCATTATCAGAGCTGACCCATTTTACAGGTAAGGATGTGGAGGCTCAGAGAAACTGACTTGCCCACAGTATGGAAGCAGGCCTGTTCAGTGCCAGGATGAGAGCGGATAGCATCCTCATGGCCTCCCGTCTTCCCAGGGCCGTCCCTCCAAGCACTGGCCTCACCTCTGAGCAGCTCATAGGCACGGCCCACGTTGAACTTCCGTGCGCGGATGAAGCGCAGGAAGAAGCC
ATTTAAGTCTCTTCCTTAATACACACAGATAGGCAGGTGTGCATTTCAGTCCTACAGCCAGTGTCTTATTTGATGGGAAAACCCTAGAGGCATCCTTACTAAGATCAGGAATTAGATAAAGACTTCACCATCTCTGCCACCATTTAATTCTATATTGAAAGTACTAACCAATGCAATCAATTTGTTAAAAAAAAAAAAATCAGGGGCATAAGAAGTGGAAAGGGAGAAGAAAAACTATCTCCTCTACTTACAGATAGTATTATAGTATACTTAGAAAACCCCAGAGAATCCATTATAAAACTAACATAAATTTTAAAAGAGTTCAGTAAAATAGGGGGATATACAATTAAAAAACAAAAACAATAACCTTCATTTATACAAACAATAACCAACTAGAAGATATAATGGAAGAAAGAGCCCCATTTTTAGCAATGACAACAAAATTAATACCTAAGACAAATTTAATGAAAAATGTGCACAACGTTGTGAGGAAAAAATTTTTAAAACCTTTTTATTTTTCAGAAGCAGAGTCTCTCTCTGTCCCCCCAGATGAAGTGCAGTAGCACAGTCATAGCTTATGAAGAAATCTTTAAAACACTCCTGAAAACTCAAAAGTAGGCTTGAAGAAAACAGAAGGCATCTCACATTTGTGGATAGGACAACTGGCCAGGAATGTGACATTCTGAAAGAAGCCAGCTCTCCCCAAGCTTGTTATTTATGTTTAATATTATCCCCAAAACATACTCCTAATATTTCTCCTAAAGCTAGACAAATTAATTCTGAAGATCATAGGGGGAAATAAACATGCAAAAGTAGCTAGAAAAGCCCCCCAAAAAGCAGATCACTAAGGACAAAACTAGCCCTAACAGATTAAACATGCCACAAAATCTCTATCATCGAAACAGTATGATATTGGAGTATGAATAGATAAAGAGACCAATGGAACAGAATAGAAAGTCCAGAAATAGACCAAGCACATACGAAAATATAAAACATGATAAAGATGGCATTTCAAGTCATTGAAAAAAGATGGACTTTTTAATAAATTGTGTTGGCACAACTAGATAGCATTATCTAAAATTAGTTTGGGCCAGGTGCGGTGTCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGCATGGTGGCGTGCGTCTGTAATCCCAGCTACTTGGAAGGCTGAGGCTTGAGGATCGCTCGAACCCAGGAGGCGGAGGTTGCAGTGAGCTAAGATCATGCCACTGCACTCCAGCCTGGGTGACCAGAGCGAGACTCCATCTCAAAAATAAATAAATAAAATAAAATAAGTTTGTAGCAGTTTTTTTTTTAAATTAAAGGAATCTTTTTCAGGCTCAGTGGCGCATGCCAAAGTTCTCCCAAGACAAACCCTAATTCCCCAACTTGGGGCAGCCCCCTTAACGGCTCAGACAAGCAAAATTGCGTACACAATTTTGCGAGCACAAAGAACTCGGGCTCCTAAATAGATTGGAACCTGTGCTTTCCAGAATCTCTTCCAGCCTATAGTCCACTAATCCCTGTTCTCTCTGTTGCTCTCAGCATTTAGCATGTGGCAGGGCAGCCCCCAGCTCATGGCACACAGCTGTTACCCCCACTTGGCACTTGGCAGGGATACCCAGGAAGAGCCATGTATTATTGACCATCAAGCTCCACCTGCAAAGCTACTGGGTTTTCCAGCTGCCCTGGCACATCCTAGGAATTCTCTCCCTGCCTGGAAAGGGCTAGGTGGCAGGTGGCTGCCCACCTTTCCCCCTCTACAGACCTTGCCTCCTGGAGAACCAGGAATGAGGGCCCAGTAGAGGCCAGGGTTGAGGGAGGGAACCCAGCCCACAGGGTGGGAGCCAGGCGAGCCCCCACTAACCTCATCAAAGGTGATTTCTTGACTTTGCCAGTTCTCAATGTTGAAGAGCATGACCACTCGGCCATACTTGTCCCGACTAAAGAGGACACCAGGGTAGCCAGCTTCAATGGTGCAGCGGACAGCCTCTGGGGACAGGCTGTCAAAGAGCTCAGGGTACTGCAGCCGGAAATTCACATAGCCTGGAGGAAGGAGAGCAGAGGAACCCCCTCAGGGAGCCATCCCATCCCTACCCCATCCCTCCTAGTGGGACTCAGAGACCTGACCTCCTGCCAGGTCCTATGTGTGACCGAGCTGGCTACTCAACCTATCCGAGCCCCATGTTTCCTCTCCAAAAAATGGGATCTCGATATTGACCTATCTATTCTAGATAGTCTAGATAGTGGCCTATCTCACCAAATTGTTGTGGCAATCAAATGAGATTCAAGGTGTAAACATCATCATAAGCTTGGGCAAACATGAGGCATAGTCTTAAATATGAGGATAATCATTACTTGTTATTTTCTTCCCCATGGGGACAAGACACAGATTTTTCAGCTGGGCACAGGATAAGCTGAGTGGTGAGGTGTGCACAGGGCTGAGGAGAAGCTCCCAAGTAAAATCCAAACCCCAAGCAGGACACAGAGCTCCTGATTCCAGCAGCACCTCTACGGTCCACAAACACCATCCTTACCCATCCTGAGCAGTTCCCCACCTCTGTGGCCTGCACCACCAAATTTGAGCCCCTAGAGGACCTGGGCACCTCTGCCAAGAGACTGCCACATCAACTTGCTCACTGCTCTGGAACACTCTGGGCACCTCCCAACCCCTGGCCTTTGTCTTTGCTGTTGCCTCTGCCCTGGCTGCTCTTCCCCACAGATATCTCATTTCCTTCGGGTTTTTCTTCAAAATTCCCTTTGCACTGGGACTTCCCTGGCCACTTTATCTAAAACTTCAGCCCCTCAAGACTTTATATCCACCTCCTTAATTTCTTTCCTTATTCCTTACCATTATTTAACCCTATATAATTTTACTTTATTTATTGGATGTATTGTTTCCACCATTAGAATATGAGTTCCACCAGGGCAGGGAACTTGTCTGTTTTGTCTCCACTGCATCCCTTGGCCTAAAACAGTTCTTGGCACAGCATGGCCCTGAATTACCATTTGGAGAAGGAAGAAGTAGGAAAAGGAAAATCATTAGCCTGCAGAGGGCCCACTCAGACCCCATTTCCGTCCACCAGTGCCCAAGATTCGATTTCTTGAGGGAACCACCCCCTTTTTTTTTTTCTTTCTTTCTTTTTTGAGATAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCGCAACCTCTGCCTCCTGCGTTCAAGCGATTCTCCTGCTTCAGCCTCCCCAGTAGCTGAGATTACAGGCATGCGCCACCACGCCCGGCTAGTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCACGTTGGTCAGGCTGGTCTCAAACCCCCGACTTCAGATGATCTGCCCGCCTTGGCCTCGCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCAACCGGCCGATGATTTCTTGAGGCATCCTGTCTTCATCCAGCCAGCAGTGCCAGAGCGGTTCTGTCCCCGGGGTTCATTCCCAGGTCTGACACCATCTTCAGTTCCACTGCACATGAGGCTTAGGTAACTGCCCTGAGAGAGGCACTATCCACCTTCCTGCAGCATTCCAGAGCCAAAGCTTAGGTTCTCATGGTGGGGGTCTGGAGGGGAAATTCCTCCCCTCGTCACCCAAATGGGGTACCCAAGTTTTACTCATTGAATCCCAAGACTGGGAGAGAGTTGAGAGGACTCAGACCTCCAGAAATCTGCTCCTGACACACTTCATTCATTCATTCGTTCGCTCATTATCAGAGCTGACCCATTTTACAGGTAAGGATGTGGAGGCTCAGAGAAACTGACTTGCCCACAGTATGGAAGCAGGCCTGTTCAGTGCCAGGATGAGAGCGGATAGCATCCTCATGGCCTCCCGTCTTCCCAGGGCCGTCCCTCCAAGCACTGGCCTCACCTCTGAGCAGCTCATAGGCACGGCCCACGTTGAACTTCCGTGCGCGGATGAAGCGCAGGAAGAAGCC
Task1_train_21801
A mutation found in RLBP1 (retinaldehyde binding protein 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; not provided
TGACACACTTCATTCATTCATTCGTTCGCTCATTATCAGAGCTGACCCATTTTACAGGTAAGGATGTGGAGGCTCAGAGAAACTGACTTGCCCACAGTATGGAAGCAGGCCTGTTCAGTGCCAGGATGAGAGCGGATAGCATCCTCATGGCCTCCCGTCTTCCCAGGGCCGTCCCTCCAAGCACTGGCCTCACCTCTGAGCAGCTCATAGGCACGGCCCACGTTGAACTTCCGTGCGCGGATGAAGCGCAGGAAGAAGCCGCTGTCCTTCTCTTGCACCCTCTCCGCCACGGCCACCGCCAGCTCCTCCCCCGAGGCCGCCTGCGCCTGCACCATCTCCTGCAGCTCTCGCACTGCCTCCTCCCGGGTCTCCTCTCTCTCGTTCAGCTCATCCTTGGCCTAGAACAGGGTGGGGTGTGCATGAAGTTAAACTTAGGTGCGGGTGAGGGGCAGGACACACAGGTGATGAGTCTCCTGCCAGAGCTAGACCAGCCAAGGGGGCCCAGGGGTCTGCAGCCGCAGCTTTGCTTTTCTGCCCCAGGGGCAGCATCTGCACTGGCAACACCTGAGACTGTTGTGTGTGGAGAGAATTCGCATATTTGCAGAATATGGCCAACAGTCTAAAAGTTTCTAAAAATGACTGCCTACACTCACTGAGCCTTTGCCTAGCAACCTGCTAAGTCCTTTAAATGCACTGTGTTTTTTAATCTTTGCCACAGACCATCATGGTAGGTGTTCTTATCCCCAGCTCTCAGATGAGCAGACTGAGGCTCATAAAGGTGAAGATATTCTTGCTCAAGGTCACCCAGAGAGAAAGGAGTGGAGCTGGGACTCCTCTTTCCATCATTTCACTCTGCTGCCTCCCAGGCTTGATTCTGATTTTTTCAAAAACACGGCTCTCTGGCAGATGGCAGCCTGCCTCCTGCCCAGAGCCTCACATTCCTCCCCTCTGCTGGGTCAGGAGAACTCCTCCGTGCGCCTCAGGCAGCTCTCTCCTTGGACAGCATGAGGAGGGAAGGGAAAGGAGGGGGAGTAAAGTGTGAAGGAGCTAATAGCACCTTTCCCTTGAGATGCCCAAGGAAGCAGAGATGGAAGCTGGGTGCCCAGGCTCAGCTCAGCCACTTCTCATCCTCCCCAGCAGCCCTAAGACAGCTCTGTCAGCCTCCACAGAGCACAATCTGATCACCTCTGAGCTAGTCCACCAACCGTCTTTCATAGATACAGAAGGCAAGACCCAGAGATGGAAAGCAATCTGCCTAAGGTCACACAGCAAGCTGAAAGTAGGTCTGGTTCTGGAACTCAAGTCTCTTGCCTGTCTAGCAGGGGCAGCAGTTGGATCCTTGTTCCCCGGGGCCATTTCCAAACCAATGCTTCTCATATTGAGTCTAGTTTAGAGGGCCCTAGTTCCGAGGCTCTGGGCTGTAGTCTTGGGTTGGGCTGGCCTGGCTGGGTGTCTGGTCAACCCAGTTGCTGCCATAGCCGTGACCACCAGGAAGGACCTTAGAACCGGCCAGTCTATCAGGTCCAGGATGATCTGGAGTGCCGAGGCTGGACCCTTTTCACAGGAGAGAGAATGCAGTCATGTTCCCCTCATGTTGCCTCCCTAGGCTGCTCCTCTCCGCACTGTCAGCCACCTCACCTTCTGCAAGGTGTGGCGGGGCAGCTGGCTGCACGGGCCAAAGACAGGTCCATGGTCCTTGGTTGTGAGCTGCTCCAGTTGGGCACGGAGCTCCTGTTCCTCTTCAGGTACCATGCGGAACGTGCCCACCTGGGCAGAGAAAGGAAAAAGAGGAACAGCCAACCGCATCAGCCTGAGCCAGCCAGGGAAATGGGCCTGCTCAGACCTTCAGTTCTTTTGCCCAAGGTCATTGTTAAGCCTCCTCCTTTTGTGGGGTCAGGACCCACACAGGGGTTATAGAAGTGTGTGCCTATATTCCCGGGCAGAGCATAAGATAGAGAAGTAAGGAGGGAGGGAGAGGGAAGAGAGAGAAGAGAGGGAAGGTGGGTGGAGGAGAGCCCTGGAGGACAGGGTACTTACCCCTTCTGACATGTTGCCTATGGAAGACACAGAGTCCTTGGAAAAAGAAGGGATCTGCTTTCTCTGTCCTGGCCTCTCCAGCCGGCCCCTTCCCTAGGATAGGAAGTCAGGGCTGCAGGGGTTAGAAAAACCATTCTGTTATTGTCTCAGAACTGTGGATCTCAAACTTTCAATTGCATCAGAATCACCCGAGGCATTTGTTAGAAACGCAGGTGCCTGGGTCCCAACCTCCATGATTCTGACTCTGCAGGTGCAGGCTGTGGCCTAGGAACCTGCAATTTAAAGCACTTCCTGGTGGCTCTGAGGGAGATGGTTCTTGGGCTACACTTTGGGAAACACTGCTTGGACAAAGGGCACAGACACAAATAGCTCAGTCCTTAGATGTTAAAACAAGTTGGCCCTGCCAGGAAAAAAAGAATCTGGCTCTGTTCTCAATGACATGATCACTGCAGGATAAGGCAATCTCTCCTCCCTCCTGTGGCCATCCTTCTCCAGCCCGAAGGAGTCCCTCAGAAACTTCGCAGCCTAGTGGATGGCCCTTTCCCCAATGCATTCATTCTCAAGATGGGTGATGACCAGTTACATAAGTACATAATCACGAGACTGGAAGTGTGTTCTGTGCTTTGTGATGCACTAAGTACTTTCAAATCCACTCTCTCAGACCCAGGGTCAACATTATTATTTCCATTTTACATAGGAGGAAACGGGAGGAGGAATAAGTGACTTGTCCAAGGTAACACAGCCAAAAAATAGCCAGGGATCAGTACTCAGACCCAAGTTGTGACTTCCTGTCAGGACCAAGAGGCAGCCTGCTGTGGCGCAAAAGTTGGACCTGGGTTCAAGTTCTTCTCTTCCACTTGCAGGCTGTGAGATTTAACCCCAGTCTTGGTTGTTCCCTGTAAAGTAGGATGGAAGTGTTATGAAATGTAATGGACACATAAGCAATGCTTGGTTACCAGAACAGGTCCCATTCATGGCCCACATGACAACCTGCTTCCCCAGTGGGTATTTTTGGAGACAGCTCTTCTGTTTCCAGGTTTTCTCTCCTGCCTAAATGTCCTGCCTAAGTGCCTTCAAGAACCCTTCACCATCCTGCTCCTGCATGTGACCAGGTTCCATGGTCAGTTCAATCACCTAGTCACAGTTGGTAAGTGACAGAGTTGGGACTTGAACCTATGCCTGCCTGACACCAAGTCTTTTTTTGACACCTAGAGCCAAGACATCTGAAGACAAACTCCCTAGGAGAGCTGGCGTCATAGAAACCTTAAAGGTTAGGGAGACCTGGGTTTGAATCAGGCTTTGTCAGTTATGACTTGTGTGACCCTAGCAAGTTATTTAACCTTTCTGGGTCTCAGTTTCCTCATCTGCAAACTGAGGATAATAACAGTACCTACCAAAAAGAACTGTCGTGAAAACCATATAATTTCTGCAATGCTCCTGGCACAGTGTCCTGTTCTAAAGCATAGTTCCCCTTCTCTTTCTTAGCTCCATATTGATTATTACCCTAACTTGCACAAAGAGACTTGGAGGACCCCCATAGAGTATCGGAGGGTCCCCCATTTCCTGCTCTTTCCACTCCACACCCCCAGCAAGCACAGGGAAGTTCTGGGGGCCATAATCCACCCACAGGAACCAAATCTAAGCCACCTTTCTGGCTGGTAGACATCCAGGTATGTGGGCACAGAGGTAGACAGGCTGAAATGCTGCTGTGCTATCAGTTGGGTTTTGCTGGAACAGGAATGGAAATGGAGAGGCTGACAGAACTGCCCTGGGGAGCCCAGGCAAGAGGGACAGTGGCTGGACACCCCCAGCCAGTTGTGCAGACCATCAGAACAAGATCCTAGATTTTAGGAATACAGGGTTCAAGTCCGTGCGGCAACTCTTTTCTAAATATGCCCAAGCCATTAACTTTGAGTTTTAAAAATACTGATTTACAAGCTGTACACAATGAAAAAATGCCTATCCCTCACACCATGCTGATGCTGTTCCCTGCCATCTCAGATTACCAATTAAATACAGAATGCCCAGTTAAATGTGAACTTTTTTTTTTTTTTTTTTT
TGACACACTTCATTCATTCATTCGTTCGCTCATTATCAGAGCTGACCCATTTTACAGGTAAGGATGTGGAGGCTCAGAGAAACTGACTTGCCCACAGTATGGAAGCAGGCCTGTTCAGTGCCAGGATGAGAGCGGATAGCATCCTCATGGCCTCCCGTCTTCCCAGGGCCGTCCCTCCAAGCACTGGCCTCACCTCTGAGCAGCTCATAGGCACGGCCCACGTTGAACTTCCGTGCGCGGATGAAGCGCAGGAAGAAGCCGCTGTCCTTCTCTTGCACCCTCTCCGCCACGGCCACCGCCAGCTCCTCCCCCGAGGCCGCCTGCGCCTGCACCATCTCCTGCAGCTCTCGCACTGCCTCCTCCCGGGTCTCCTCTCTCTCGTTCAGCTCATCCTTGGCCTAGAACAGGGTGGGGTGTGCATGAAGTTAAACTTAGGTGCGGGTGAGGGGCAGGACACACAGGTGATGAGTCTCCTGCCAGAGCTAGACCAGCCAAGGGGGCCCAGGGGTCTGCAGCCGCAGCTTTGCTTTTCTGCCCCAGGGGCAGCATCTGCACTGGCAACACCTGAGACTGTTGTGTGTGGAGAGAATTCGCATATTTGCAGAATATGGCCAACAGTCTAAAAGTTTCTAAAAATGACTGCCTACACTCACTGAGCCTTTGCCTAGCAACCTGCTAAGTCCTTTAAATGCACTGTGTTTTTTAATCTTTGCCACAGACCATCATGGTAGGTGTTCTTATCCCCAGCTCTCAGATGAGCAGACTGAGGCTCATAAAGGTGAAGATATTCTTGCTCAAGGTCACCCAGAGAGAAAGGAGTGGAGCTGGGACTCCTCTTTCCATCATTTCACTCTGCTGCCTCCCAGGCTTGATTCTGATTTTTTCAAAAACACGGCTCTCTGGCAGATGGCAGCCTGCCTCCTGCCCAGAGCCTCACATTCCTCCCCTCTGCTGGGTCAGGAGAACTCCTCCGTGCGCCTCAGGCAGCTCTCTCCTTGGACAGCATGAGGAGGGAAGGGAAAGGAGGGGGAGTAAAGTGTGAAGGAGCTAATAGCACCTTTCCCTTGAGATGCCCAAGGAAGCAGAGATGGAAGCTGGGTGCCCAGGCTCAGCTCAGCCACTTCTCATCCTCCCCAGCAGCCCTAAGACAGCTCTGTCAGCCTCCACAGAGCACAATCTGATCACCTCTGAGCTAGTCCACCAACCGTCTTTCATAGATACAGAAGGCAAGACCCAGAGATGGAAAGCAATCTGCCTAAGGTCACACAGCAAGCTGAAAGTAGGTCTGGTTCTGGAACTCAAGTCTCTTGCCTGTCTAGCAGGGGCAGCAGTTGGATCCTTGTTCCCCGGGGCCATTTCCAAACCAATGCTTCTCATATTGAGTCTAGTTTAGAGGGCCCTAGTTCCGAGGCTCTGGGCTGTAGTCTTGGGTTGGGCTGGCCTGGCTGGGTGTCTGGTCAACCCAGTTGCTGCCATAGCCGTGACCACCAGGAAGGACCTTAGAACCGGCCAGTCTATCAGGTCCAGGATGATCTGGAGTGCCGAGGCTGGACCCTTTTCACAGGAGAGAGAATGCAGTCATGTTCCCCTCATGTTGCCTCCCTAGGCTGCTCCTCTCCGCACTGTCAGCCACCTCACCTTCTGCAAGGTGTGGCGGGGCAGCTGGCTGCACGGGCCAAAGACAGGTCCATGGTCCTTGGTTGTGAGCTGCTCCAGTTGGGCACGGAGCTCCTGTTCCTCTTCAGGTACCATGCGGAACGTGCCCACCTGGGCAGAGAAAGGAAAAAGAGGAACAGCCAACCGCATCAGCCTGAGCCAGCCAGGGAAATGGGCCTGCTCAGACCTTCAGTTCTTTTGCCCAAGGTCATTGTTAAGCCTCCTCCTTTTGTGGGGTCAGGACCCACACAGGGGTTATAGAAGTGTGTGCCTATATTCCCGGGCAGAGCATAAGATAGAGAAGTAAGGAGGGAGGGAGAGGGAAGAGAGAGAAGAGAGGGAAGGTGGGTGGAGGAGAGCCCTGGAGGACAGGGTACTTACCCCTTCTGACAAGTTGCCTATGGAAGACACAGAGTCCTTGGAAAAAGAAGGGATCTGCTTTCTCTGTCCTGGCCTCTCCAGCCGGCCCCTTCCCTAGGATAGGAAGTCAGGGCTGCAGGGGTTAGAAAAACCATTCTGTTATTGTCTCAGAACTGTGGATCTCAAACTTTCAATTGCATCAGAATCACCCGAGGCATTTGTTAGAAACGCAGGTGCCTGGGTCCCAACCTCCATGATTCTGACTCTGCAGGTGCAGGCTGTGGCCTAGGAACCTGCAATTTAAAGCACTTCCTGGTGGCTCTGAGGGAGATGGTTCTTGGGCTACACTTTGGGAAACACTGCTTGGACAAAGGGCACAGACACAAATAGCTCAGTCCTTAGATGTTAAAACAAGTTGGCCCTGCCAGGAAAAAAAGAATCTGGCTCTGTTCTCAATGACATGATCACTGCAGGATAAGGCAATCTCTCCTCCCTCCTGTGGCCATCCTTCTCCAGCCCGAAGGAGTCCCTCAGAAACTTCGCAGCCTAGTGGATGGCCCTTTCCCCAATGCATTCATTCTCAAGATGGGTGATGACCAGTTACATAAGTACATAATCACGAGACTGGAAGTGTGTTCTGTGCTTTGTGATGCACTAAGTACTTTCAAATCCACTCTCTCAGACCCAGGGTCAACATTATTATTTCCATTTTACATAGGAGGAAACGGGAGGAGGAATAAGTGACTTGTCCAAGGTAACACAGCCAAAAAATAGCCAGGGATCAGTACTCAGACCCAAGTTGTGACTTCCTGTCAGGACCAAGAGGCAGCCTGCTGTGGCGCAAAAGTTGGACCTGGGTTCAAGTTCTTCTCTTCCACTTGCAGGCTGTGAGATTTAACCCCAGTCTTGGTTGTTCCCTGTAAAGTAGGATGGAAGTGTTATGAAATGTAATGGACACATAAGCAATGCTTGGTTACCAGAACAGGTCCCATTCATGGCCCACATGACAACCTGCTTCCCCAGTGGGTATTTTTGGAGACAGCTCTTCTGTTTCCAGGTTTTCTCTCCTGCCTAAATGTCCTGCCTAAGTGCCTTCAAGAACCCTTCACCATCCTGCTCCTGCATGTGACCAGGTTCCATGGTCAGTTCAATCACCTAGTCACAGTTGGTAAGTGACAGAGTTGGGACTTGAACCTATGCCTGCCTGACACCAAGTCTTTTTTTGACACCTAGAGCCAAGACATCTGAAGACAAACTCCCTAGGAGAGCTGGCGTCATAGAAACCTTAAAGGTTAGGGAGACCTGGGTTTGAATCAGGCTTTGTCAGTTATGACTTGTGTGACCCTAGCAAGTTATTTAACCTTTCTGGGTCTCAGTTTCCTCATCTGCAAACTGAGGATAATAACAGTACCTACCAAAAAGAACTGTCGTGAAAACCATATAATTTCTGCAATGCTCCTGGCACAGTGTCCTGTTCTAAAGCATAGTTCCCCTTCTCTTTCTTAGCTCCATATTGATTATTACCCTAACTTGCACAAAGAGACTTGGAGGACCCCCATAGAGTATCGGAGGGTCCCCCATTTCCTGCTCTTTCCACTCCACACCCCCAGCAAGCACAGGGAAGTTCTGGGGGCCATAATCCACCCACAGGAACCAAATCTAAGCCACCTTTCTGGCTGGTAGACATCCAGGTATGTGGGCACAGAGGTAGACAGGCTGAAATGCTGCTGTGCTATCAGTTGGGTTTTGCTGGAACAGGAATGGAAATGGAGAGGCTGACAGAACTGCCCTGGGGAGCCCAGGCAAGAGGGACAGTGGCTGGACACCCCCAGCCAGTTGTGCAGACCATCAGAACAAGATCCTAGATTTTAGGAATACAGGGTTCAAGTCCGTGCGGCAACTCTTTTCTAAATATGCCCAAGCCATTAACTTTGAGTTTTAAAAATACTGATTTACAAGCTGTACACAATGAAAAAATGCCTATCCCTCACACCATGCTGATGCTGTTCCCTGCCATCTCAGATTACCAATTAAATACAGAATGCCCAGTTAAATGTGAACTTTTTTTTTTTTTTTTTTT
Task1_train_21802
Located on Chromosome 15, this mutation impacts FANCI (FA complementation group I). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Fanconi anemia complementation group I
TTTAAGTTCCAGATGGAAACATGTGGAAGGGCCTGTGGCAGAAAGAACTTGGAGATTTGAAGGACTGGAAGCAATTCTGCATGGCTGGAGCAGAGTGATGAAAGGGAGGTAGGCATGGGTCAGAACTTGCAGGACTTATTTTATCCTTACTTAAGGGTTTTGGACTGATAAAGCAATGGAAGCCACTGAAGAGCTTTAAGATGAGGATGGCATGGAGGGAAGATAAGTCACATAATCAGGTTTGTGTTTCAAAAACATCACTTTAGTTGCTGCGTAGAAGGGAACAAGTTAGGAAACGATTGCAGTAGTTCAGGTGAGAGATGGTGGTGGCTTGGGGTAATGTGTCAGTAGTGGAGATGGAGAAAAGTAGACAGATTTGGGAGATATTTAGTAGGTAACATTGACAGGACTTGGTAATGGATGTGGTGAAGGATGAAGGCAAAGTTGTTAAGAATGTTACCTAGGTTTCTGGTCTGAGCAGCTGAGTGGATGATGGTACCATTTATGGAGACGGGAAACACAGGAGGAAGAAGAGGAGGAACAGATTTTCTTTCTACTAGGCTGTACTTCCCCCTTCTATTTTCATAGCTACTCACTGAATTCTATCTGCTTCATGTGCCTCCATTTCATCCCATCTTTTCTGTTCTCCAGTCACCACCCTAGTACAGGTCTTTATCATTTCCACTAAAATAACTTCCAAATGGTCTCTTAGCATTTGCTGTTTCTTCTTACCTTCTCCCCACTTTAATCTGCACAAAGATGCTAGGTTCTGTTTCCTCAAACACTTGCAATCTTGTGAGATTGTCTTTTGCTCAAATTTTTTAATGGTTCTCAGTAATTTACGAAATAGAATCTAAATTCCTTAACCTGTTTACTTCCAGCCTATCTTTCCAGACTTCCTACTCACTATTTTCCTACTTGGATTCTACCTCAGCCATTTTACTCATTTTCCCCCAAAGAAATTTCTCATTTCCCGTATGAATGCCTTTGTTCATGATACCCTTCTCCATAATGTATACAACCTGGTTGTCTGGACTACCTATATTTAATCTCTAAGTTCCAGTTCAAGCTTTCCTCTGCTGCGAAACCTTGACATTTAAGAACACAGTTACATCTTTTACCTTGTTAACTTCTCAGCTTTTCTTTCTTTCTTTCTTCCTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCACTGCAAGCTCCTCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTTGTATTTTTGGTAGAGACGGGGGTTTCACCGTGTTAGCCAAAATGGTCTCGATCTCCTGACTTCGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCCGGCCTCTTTTTTTTTTTTTTTTTAAGAGACAGGGTCTTACCTTGTTGCCTAGGCTGGAGTACTGTGGCATGATCATAGCTCACTGCAGCCTCACACTCTTGGGCTCCCCTTCTCACTTGTTTTTATACCATTTAATTGGCACATAGCATTTATAGTGCTATTGGTTTATTCATTTATTTGTCAAATACTTTATTACATGCTTATGGTAATATATAATGTATTACATACTTGATATGCTGTTAAATGGAAGCTTTGTTCTAGGTAGTATGGTGAGTAGATGGTAACAAGTGTGGGCAAAAATTATGAAACCACTTGATTAGAATACAGATTCCTAATAAGGCAATTCCAGGGAATTTTCAGGATTATTTTGGTTAGGTTAAGAATCATCTTGCCACTGAGCTTAAGAAGAAGAAGAAAAAAGAATCAGCTACTTAAAGATAGTCCTAAGTTTGTTGAGCACCCATTGCATAATAGGTATGAAATATTCAGTTAACAGGGAAGGAAAACAAATCAAGTTTGTTTATTTCTGGAATCTTCACCCACCTCTGACGTTTTTCCCTTGTAGTTCTGTGATATGAGCAACAATGGACCAGAAGATTTTATCTCTAGCAGCAGAAAAAACAGCAGACAAACTGCAAGAATTTCTTCAAACCCTGAGAGAAGGTGATGTGAGTATTAGGAAGCATGTTCTGCTAAAAGTAAATGTCAGGCATGATGACACATTCAAAGGACATGTGAGAAAGAAAAATTACGCTGCTTCTTCATCTACTCCCCATTCACTGTAGGAGACAAGGATTTATTTAATAATAATTTATAGATGTAAAGAAATTGGGGTGAGGGAATGAGAGAAATAGACTACTTGAGGGCATTTGTGACCAAGTTTAAACCTGAAATAGTTTAAGAATAGAATGCTTTTACAACTGTATTTATAAAAGCAATTAGTATACTTTTATGGTCCTCAGAACAATCCTATTTGATGATAATATCCAGACTATAGTTACTGATTGAGACATTAGTTTTGCATTTTGATGCTTCTCTGTATTTTTCCGTAAAGAAATTAAGTTTATAAGCGGCAAAATATTTTGAAATTATTAGTAAAAATTAGGGCCTCTGTTTTCACTATAAGTGTAGGATTATAAAATGGGATAGTAATTGCCTTATATGTTAGGCTGTTTCTTCTCCCTAATGTTCTTTCTCAGCTGATATACTGCTCCTTTTTCCATAAGTGATCTCATCCTATCCAGGTCCCTGCCTGGAAAAGAATCCCTCTTCAAGGTATATGTACAAACAAGTAAAGACATTGAGTATCATGGGATTTTTTTCCTTTTTCTGTCAATTGATGAGTATTATGTTTTTAAGGGAATTTCTTTGTGTTAATGTTGTAGTTATTGAAGGAAGGTGCATCTTAGTGTGTGTTATCTGACATACTAACTAGGAATTGATGCAGTGTTGCTCTTTGATTTTTTTTTCTTTGAAATTATCCAAGATTGCCTTTATAGCTATTTTTTGAGATGACTTGTTGCATGAGTTGTAACTTGAATCATTCTATAGACAAGATTTGATTGAAACTAGCATTTAAATTATTTATTTAAAGTTTCATGCCTCAAATTGAAGGCGTGAACACTGTCAAATTGAAGACAGTGTTCCAGATGTTTTCTGACTCTAGGATAGAGTAATGCTAATATTTCCCTCATTTTTCCATTAATGCAAAATCAGCTTTTTGGCAGCAACATTATATTGTAGTCTCATTGCTCTTATATTTATTTTTGTATATGTTGATAAGTTGCTAAGTTTCCTTTATCTCTGAAGTCCTTTTAGAATCCATGTTAAAAACTATATATAGGCCAGGCATGGTGACTTACACCTGTAGTCCCAGCACTTTGGGAGGATTCCTTTAGGCCAGGAGTTCGAGATCAGCTTAGGCAACATAGTGAGACCCAGTTTCTAAAAACAACTACCAAAACAACAAACTTTATATCTGTTAACTGTCACCTTTTTTAGATTCATCTTGTTTTACTCCATCAAGATCATTTTGTATGATTCTGCTGACCGTATTAATCAGCTTTTTATCCTCTACAAATTTGTTAAGCATGTCAGTAATATATGCAGGCAGTTCATTTGATAAAATGTCCCACAGAAGATGAACTCAGAGTAAAAAATTATAAAACACATAAAGAAGTCCTGTGGCAAGAAAGACTCAAACAGAAATGGGAAAATTCATATTCAAGGATTTAGAGCAATCTGAAAAAAATCTTTAATTATTTAACACAAATACTTAATACAGTATTTAACTTTATTTATTTAAAGGTGGGATCTCACCCTTGCACAGGCTGGAGTGCAGTGGGGCGATCTCGGCACACTGCAGCCTCAACCTCCTGGGCTCATGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAAGCATGTGCCACCATGTCCGACTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCGCCATGCTTTCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCACCCACCTCAGCCTCCCACAGTGCCGGGATTACACGTGTGAGCCACTCTGCCTGACCTAGTATTTAAAATATTTGAAGATGTAAATGAAGGAATAGAACTCACAAA
TTTAAGTTCCAGATGGAAACATGTGGAAGGGCCTGTGGCAGAAAGAACTTGGAGATTTGAAGGACTGGAAGCAATTCTGCATGGCTGGAGCAGAGTGATGAAAGGGAGGTAGGCATGGGTCAGAACTTGCAGGACTTATTTTATCCTTACTTAAGGGTTTTGGACTGATAAAGCAATGGAAGCCACTGAAGAGCTTTAAGATGAGGATGGCATGGAGGGAAGATAAGTCACATAATCAGGTTTGTGTTTCAAAAACATCACTTTAGTTGCTGCGTAGAAGGGAACAAGTTAGGAAACGATTGCAGTAGTTCAGGTGAGAGATGGTGGTGGCTTGGGGTAATGTGTCAGTAGTGGAGATGGAGAAAAGTAGACAGATTTGGGAGATATTTAGTAGGTAACATTGACAGGACTTGGTAATGGATGTGGTGAAGGATGAAGGCAAAGTTGTTAAGAATGTTACCTAGGTTTCTGGTCTGAGCAGCTGAGTGGATGATGGTACCATTTATGGAGACGGGAAACACAGGAGGAAGAAGAGGAGGAACAGATTTTCTTTCTACTAGGCTGTACTTCCCCCTTCTATTTTCATAGCTACTCACTGAATTCTATCTGCTTCATGTGCCTCCATTTCATCCCATCTTTTCTGTTCTCCAGTCACCACCCTAGTACAGGTCTTTATCATTTCCACTAAAATAACTTCCAAATGGTCTCTTAGCATTTGCTGTTTCTTCTTACCTTCTCCCCACTTTAATCTGCACAAAGATGCTAGGTTCTGTTTCCTCAAACACTTGCAATCTTGTGAGATTGTCTTTTGCTCAAATTTTTTAATGGTTCTCAGTAATTTACGAAATAGAATCTAAATTCCTTAACCTGTTTACTTCCAGCCTATCTTTCCAGACTTCCTACTCACTATTTTCCTACTTGGATTCTACCTCAGCCATTTTACTCATTTTCCCCCAAAGAAATTTCTCATTTCCCGTATGAATGCCTTTGTTCATGATACCCTTCTCCATAATGTATACAACCTGGTTGTCTGGACTACCTATATTTAATCTCTAAGTTCCAGTTCAAGCTTTCCTCTGCTGCGAAACCTTGACATTTAAGAACACAGTTACATCTTTTACCTTGTTAACTTCTCAGCTTTTCTTTCTTTCTTTCTTCCTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCACTGCAAGCTCCTCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTTGTATTTTTGGTAGAGACGGGGGTTTCACCGTGTTAGCCAAAATGGTCTCGATCTCCTGACTTCGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCCGGCCTCTTTTTTTTTTTTTTTTTAAGAGACAGGGTCTTACCTTGTTGCCTAGGCTGGAGTACTGTGGCATGATCATAGCTCACTGCAGCCTCACACTCTTGGGCTCCCCTTCTCACTTGTTTTTATACCATTTAATTGGCACATAGCATTTATAGTGCTATTGGTTTATTCATTTATTTGTCAAATACTTTATTACATGCTTATGGTAATATATAATGTATTACATACTTGATATGCTGTTAAATGGAAGCTTTGTTCTAGGTAGTATGGTGAGTAGATGGTAACAAGTGTGGGCAAAAATTATGAAACCACTTGATTAGAATACAGATTCCTAATAAGGCAATTCCAGGGAATTTTCAGGATTATTTTGGTTAGGTTAAGAATCATCTTGCCACTGAGCTTAAGAAGAAGAAGAAAAAAGAATCAGCTACTTAAAGATAGTCCTAAGTTTGTTGAGCACCCATTGCATAATAGGTATGAAATATTCAGTTAACAGGGAAGGAAAACAAATCAAGTTTGTTTATTTCTGGAATCTTCACCCACCTCTGACGTTTTTCCCTTGTAGTTCTGTGATATGAGCAACAACGGACCAGAAGATTTTATCTCTAGCAGCAGAAAAAACAGCAGACAAACTGCAAGAATTTCTTCAAACCCTGAGAGAAGGTGATGTGAGTATTAGGAAGCATGTTCTGCTAAAAGTAAATGTCAGGCATGATGACACATTCAAAGGACATGTGAGAAAGAAAAATTACGCTGCTTCTTCATCTACTCCCCATTCACTGTAGGAGACAAGGATTTATTTAATAATAATTTATAGATGTAAAGAAATTGGGGTGAGGGAATGAGAGAAATAGACTACTTGAGGGCATTTGTGACCAAGTTTAAACCTGAAATAGTTTAAGAATAGAATGCTTTTACAACTGTATTTATAAAAGCAATTAGTATACTTTTATGGTCCTCAGAACAATCCTATTTGATGATAATATCCAGACTATAGTTACTGATTGAGACATTAGTTTTGCATTTTGATGCTTCTCTGTATTTTTCCGTAAAGAAATTAAGTTTATAAGCGGCAAAATATTTTGAAATTATTAGTAAAAATTAGGGCCTCTGTTTTCACTATAAGTGTAGGATTATAAAATGGGATAGTAATTGCCTTATATGTTAGGCTGTTTCTTCTCCCTAATGTTCTTTCTCAGCTGATATACTGCTCCTTTTTCCATAAGTGATCTCATCCTATCCAGGTCCCTGCCTGGAAAAGAATCCCTCTTCAAGGTATATGTACAAACAAGTAAAGACATTGAGTATCATGGGATTTTTTTCCTTTTTCTGTCAATTGATGAGTATTATGTTTTTAAGGGAATTTCTTTGTGTTAATGTTGTAGTTATTGAAGGAAGGTGCATCTTAGTGTGTGTTATCTGACATACTAACTAGGAATTGATGCAGTGTTGCTCTTTGATTTTTTTTTCTTTGAAATTATCCAAGATTGCCTTTATAGCTATTTTTTGAGATGACTTGTTGCATGAGTTGTAACTTGAATCATTCTATAGACAAGATTTGATTGAAACTAGCATTTAAATTATTTATTTAAAGTTTCATGCCTCAAATTGAAGGCGTGAACACTGTCAAATTGAAGACAGTGTTCCAGATGTTTTCTGACTCTAGGATAGAGTAATGCTAATATTTCCCTCATTTTTCCATTAATGCAAAATCAGCTTTTTGGCAGCAACATTATATTGTAGTCTCATTGCTCTTATATTTATTTTTGTATATGTTGATAAGTTGCTAAGTTTCCTTTATCTCTGAAGTCCTTTTAGAATCCATGTTAAAAACTATATATAGGCCAGGCATGGTGACTTACACCTGTAGTCCCAGCACTTTGGGAGGATTCCTTTAGGCCAGGAGTTCGAGATCAGCTTAGGCAACATAGTGAGACCCAGTTTCTAAAAACAACTACCAAAACAACAAACTTTATATCTGTTAACTGTCACCTTTTTTAGATTCATCTTGTTTTACTCCATCAAGATCATTTTGTATGATTCTGCTGACCGTATTAATCAGCTTTTTATCCTCTACAAATTTGTTAAGCATGTCAGTAATATATGCAGGCAGTTCATTTGATAAAATGTCCCACAGAAGATGAACTCAGAGTAAAAAATTATAAAACACATAAAGAAGTCCTGTGGCAAGAAAGACTCAAACAGAAATGGGAAAATTCATATTCAAGGATTTAGAGCAATCTGAAAAAAATCTTTAATTATTTAACACAAATACTTAATACAGTATTTAACTTTATTTATTTAAAGGTGGGATCTCACCCTTGCACAGGCTGGAGTGCAGTGGGGCGATCTCGGCACACTGCAGCCTCAACCTCCTGGGCTCATGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAAGCATGTGCCACCATGTCCGACTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCGCCATGCTTTCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCACCCACCTCAGCCTCCCACAGTGCCGGGATTACACGTGTGAGCCACTCTGCCTGACCTAGTATTTAAAATATTTGAAGATGTAAATGAAGGAATAGAACTCACAAA
Task1_train_21803
This variant affects gene FANCI (FA complementation group I) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
Pathogenic; Fanconi anemia complementation group I
AGGCTGGTCTTGAACTTCTGAGCTCAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGGTCCTGGCCGTTTCTTTTCCTTTTTAAAGGAAACAGTCTCACTATGTTGCCCAGGCTGGAGTGCAATGGCTATTCACAGGCTCTATTATAGCACGGTAAAGCCTCAAACTCCTGGCCTCAAGTGATGCTCCCACCTCAGTAGCTGGGACTATAGGCATGTAGCCCTGTGCCTGGCTTGGCCTTTCTTCTTTTTTTTTTTTTTTTTTTTCTGAAGACGTAGGAACTTTTCACTATGTTGCCCAGGCTAGACTTGATCTTCTGGGCTCAACTGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAATAATAGGTGCATGCCACTGCATCTGACTCATGGCCTCTTTTTAAAGTGAGTAAAAAACATTAAGAGTTTTATTTACTTTGTTGAAATTTGGAGCGTACAGTTGGAATTCAATTATTGATTAGCCAGTTTAGAGAAATTCATTTAAAACCACATGGAAAACATCAGTAACTGTCCTGGTTTTTATTTTAATTTCAGGATATACATTAGCTGTTGTAACAGTCTTTACTATGTCATGCTTTCACTGTGTATTAAATATATTTTAAAGTTTCATAATTTAAGCATAATTTATGGTAGGCCTCTTCTAGGCCTGGAATTCTTGTTTATTAATAGATTGAATTTACATGAGCTTTGCAGTAGGGCAAATTTGAAATTAGAGTTTATTGTTTGAGTGTTTTACCCATTGTTAGGCCTTAAAGCTTTTTAATCTTTGTATCTCATTATTCTTTTTCCTGAGGTTTATACTTGTGTCTCCAGTATTTTCCCAACCCAATCTCTTAAAGTTGGGCTAAAGAAGGAGGTACTCACTAACCAGGAAATTCCTGGAAAGCTTCCCATCTTCTGGAAATCTCAACTGTCATAGGACTTGAAAGCATCTCCATGTATAATTAGCCTGGAGTGGGTACTTGCCACTGGGTGGGACCAAACCTCAGCTGGGAGAGATTTGGATAGCCTTATTAGATCCTCTAAAATAACTGGCTGGTTAGTTACACATGCTTGCCCCAGTCAGTTAATGAACCTTTAAATAATGCATTCTCCATTTTATGTAATTGAATTTTTGGCTCTTCAGAGTATGAATATTGTTAACTCTGTTAAAGTCTTATAATTTATCCATAACTGTCTACTTCATTCTGTAGTGCTGCATTATAATTTGTTGCAATTTAACAGGTAGATATAATGGATAAAGGTTATATTCACATTATTTCCACTGTGGGGTATAACATTAAGTGGTATAAAACCACCAATGATTCTACTCTTTTACAAAAGATTATTTGTAGTTTTAGCTTATGCTGTTGATACCAGATCACTCATCCATTTATAGTATAAATATCTACTGAGTGTCTTTTATATGCCACCCTTGTGCTAAGCAATGTGGGTAAAAATATGACTATACTATGACCTCTCTCCTAGAGAATCTCTGTCTTTGGAGGGGAGCTAATTTGTAAGCCTCTACATAAGCGTTGTCAGTGCTGTAGGGTAATAGAAGAGGCAGCAATGAACTTCTCATCATGAAATCTTGAATAGGAATCTTTAATTTTTTTAATACTCTCTAGCTTCTGGATTTTCCCAGTATTCTGTGTGTCATTGGAGACCACTTGCCTGCTGTTCCCATTATGGTACATTTAGGAATTCAGAATTCTGTCAGACGATGTGTGTAAAGAAAAGGTTTATATGCAGAGTACGTTGATTATCTAGGTCAAGTTTGGGAAATGTATAACAGGGCAATGAGTATAAAGGTAAGAATATCTCACTAAGTTTTTCTTTTTTAACTAAGCTTTGTGTTCTTGTAGCGTTCATAGCTGGGACCATGTTACTCAGGGCCTCGTAGAACTTGGTTTCATTTTGATGGATTCATATGGGCCAAAGAAGGTTCTTGATGGAAAAACTATTGAAACCAGCCCAAGTCTTTCTAGAATGCCAAACCAGCATGCATGTAAGCTCGGAGCTAATATCCTGTTGGAAACTTTTAAGGTGAGACACTATTTTGGCAACCACTCCCTAATTTTGTTTAAATAATCCAAGTAGGGCTTGGCATTTGCCTGGGAGTTTGGTGGACAAGGAAATTTGAGTATGTATTAGTTTGACAGAGGATATATGACAGAGATTAGGATAATATTGAAACATTATAGATCCAGTTTGATGGAATACTTACTTACGTATTCTTCTATGTAAGTTTTTCATTTATTCCACTTAATCCAATTGTTTCTGACCTAGAAGTTTGAATATAAGACAGCTTTTTCATGATTTTTCCTTCTTCTTCCAGAAGTAAACCATTTCTAGTTTTTGTTTTGTTTTGTTTTAATGCTGTTCCTTTACACAGAAGAAATTTTTTTAGGTCACTGTAGAGCATCAAGCTTAAAGAATCATGCTTAAGAATTTTTACTGAAAATAAAACAAAAAAAGAATCATGCTTGGTCGGGCATGGTGGCTCAAGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACGTGGCGAAACCTCATCTCTACAAAAAACACAAAAATTAGCCAGGTGTGGTGGCACGCACCTGCAGTCCCAGCTACTTAGGTGACTGAGGTGGATCACTTGAGCCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTTGCACCACTGCACTCCAGCCTGGGTAACAAAGTGAGATCCTATCTCAAAAAAAAAAAAAAAAAAAAAGAATCATACTTATTGGTTCATTGTTTCTGAAGAAACCAAAATGGGAAATGTACATTTTTTTGACATTATTACCAAATTATCACTGACATCTCAATCTTAATTACTGAAACAGTTTTCAAAAATTTATTTTCTCTTGAATAAAAAAATGCTAGATCATATCTGAGGTTAAACAACTTTTCTAGTAATTCCTCTAAGTCTTCTTGATGTTCAATTGTTTAATGTAGCTACACACCAAGAGTGTCTGCTGAAAATGTTTATTTGGGAGGCTGATCTAAATGTAAATCTAGTGTTCTAATCCAGAACTATGAAGTAAATGTCAGAATAGTTCTTGAGAGTTATCAGTGTATTTGATGATATAAATTACCCTGCTTAACAGTGATATTGTTAAAGACATTATCTTAGAGTATGTTTTTATATTTAAATTATTATTTTTCAAAACTAAAGAGGCTCCATTTGATTTCACATGGATGTCGGCTTTATCAAGGCATCTTTATAAATTGCTACTAAGTCACTAACAGTCTGAGGTCTGAACGAATTAGTCTGTACCATAAAGTAATCAAGTTGAAGTAAGAATTTTAACTACAATTCAAGTGAAAATTCAGAATGGGTCTTTTTAACAGCAACTGCTGTGCTTCTAGAAACTGAGAAAGGGGTTAGGGAAGATCTTTTAAGTTTCTAGAAATCTTCATGGGCTTTTACATTTTAATTTTTAGAATAAAAGTTATGTATACTGTCAGGAATATGGATATTGTCAGGTAATGGATACCTAAGTAGAATTGATCCTGTTTGATGCTGAACCTTATATGTAGCAATAGTTTAATGTGATCTGTACTTTTAGGCTAATAAACATGGTATTTATCCTACTAATGAATCATCTAAGCACAGAACAAGGGGAAAGTTGAGTGATTCTGTCTTTCCAGATGATTCACATTATATTCTGATTTTTTGAGTTTTACTCATATCCAAACGGTTCTTCATGCTGCCTGACATGCATTGATATACTTAAAAGCTGAAGGGTCACCCAGGAATATTTTATTTATTCTGTTCTTTTTAGATCCATGAGATGATCAGACAAGAAATTTTGGAGCAGGTCCTCAACAGGGTTGTTACCAGAGCATCTTCTCCCATCAGTCATTTCTTAGGTATTCAACTTTGAAAGAATGAATAAAGTTTTTAGAAATATTTTCATTTCAATGTCATAATCATTTGGTCCTGGGAAAAAAATTTTAATGAGCATTTAAATGCAGTATCTTTGATAGGATGCCAATAAAGGAAAT
AGGCTGGTCTTGAACTTCTGAGCTCAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGGTCCTGGCCGTTTCTTTTCCTTTTTAAAGGAAACAGTCTCACTATGTTGCCCAGGCTGGAGTGCAATGGCTATTCACAGGCTCTATTATAGCACGGTAAAGCCTCAAACTCCTGGCCTCAAGTGATGCTCCCACCTCAGTAGCTGGGACTATAGGCATGTAGCCCTGTGCCTGGCTTGGCCTTTCTTCTTTTTTTTTTTTTTTTTTTTCTGAAGACGTAGGAACTTTTCACTATGTTGCCCAGGCTAGACTTGATCTTCTGGGCTCAACTGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAATAATAGGTGCATGCCACTGCATCTGACTCATGGCCTCTTTTTAAAGTGAGTAAAAAACATTAAGAGTTTTATTTACTTTGTTGAAATTTGGAGCGTACAGTTGGAATTCAATTATTGATTAGCCAGTTTAGAGAAATTCATTTAAAACCACATGGAAAACATCAGTAACTGTCCTGGTTTTTATTTTAATTTCAGGATATACATTAGCTGTTGTAACAGTCTTTACTATGTCATGCTTTCACTGTGTATTAAATATATTTTAAAGTTTCATAATTTAAGCATAATTTATGGTAGGCCTCTTCTAGGCCTGGAATTCTTGTTTATTAATAGATTGAATTTACATGAGCTTTGCAGTAGGGCAAATTTGAAATTAGAGTTTATTGTTTGAGTGTTTTACCCATTGTTAGGCCTTAAAGCTTTTTAATCTTTGTATCTCATTATTCTTTTTCCTGAGGTTTATACTTGTGTCTCCAGTATTTTCCCAACCCAATCTCTTAAAGTTGGGCTAAAGAAGGAGGTACTCACTAACCAGGAAATTCCTGGAAAGCTTCCCATCTTCTGGAAATCTCAACTGTCATAGGACTTGAAAGCATCTCCATGTATAATTAGCCTGGAGTGGGTACTTGCCACTGGGTGGGACCAAACCTCAGCTGGGAGAGATTTGGATAGCCTTATTAGATCCTCTAAAATAACTGGCTGGTTAGTTACACATGCTTGCCCCAGTCAGTTAATGAACCTTTAAATAATGCATTCTCCATTTTATGTAATTGAATTTTTGGCTCTTCAGAGTATGAATATTGTTAACTCTGTTAAAGTCTTATAATTTATCCATAACTGTCTACTTCATTCTGTAGTGCTGCATTATAATTTGTTGCAATTTAACAGGTAGATATAATGGATAAAGGTTATATTCACATTATTTCCACTGTGGGGTATAACATTAAGTGGTATAAAACCACCAATGATTCTACTCTTTTACAAAAGATTATTTGTAGTTTTAGCTTATGCTGTTGATACCAGATCACTCATCCATTTATAGTATAAATATCTACTGAGTGTCTTTTATATGCCACCCTTGTGCTAAGCAATGTGGGTAAAAATATGACTATACTATGACCTCTCTCCTAGAGAATCTCTGTCTTTGGAGGGGAGCTAATTTGTAAGCCTCTACATAAGCGTTGTCAGTGCTGTAGGGTAATAGAAGAGGCAGCAATGAACTTCTCATCATGAAATCTTGAATAGGAATCTTTAATTTTTTTAATACTCTCTAGCTTCTGGATTTTCCCAGTATTCTGTGTGTCATTGGAGACCACTTGCCTGCTGTTCCCATTATGGTACATTTAGGAATTCAGAATTCTGTCAGACGATGTGTGTAAAGAAAAGGTTTATATGCAGAGTACGTTGATTATCTAGGTCAAGTTTGGGAAATGTATAACAGGGCAATGAGTATAAAGGTAAGAATATCTCACTAAGTTTTTCTTTTTTAACTAAGCTTTGTGTTCTTGTAGCGTTCATAGCTGGGACCATGTTACTCAGGGCCTCGTAGAACTTGGTTTCATTTTGATGGATTCATATGGGCCAAAGAAGGTTCTTGATGGAAAAACTATTGAAACCAGCCCAAGTCTTTCTAGAATGCCAAACCAGCATGCATGTAAGCTCCGAGCTAATATCCTGTTGGAAACTTTTAAGGTGAGACACTATTTTGGCAACCACTCCCTAATTTTGTTTAAATAATCCAAGTAGGGCTTGGCATTTGCCTGGGAGTTTGGTGGACAAGGAAATTTGAGTATGTATTAGTTTGACAGAGGATATATGACAGAGATTAGGATAATATTGAAACATTATAGATCCAGTTTGATGGAATACTTACTTACGTATTCTTCTATGTAAGTTTTTCATTTATTCCACTTAATCCAATTGTTTCTGACCTAGAAGTTTGAATATAAGACAGCTTTTTCATGATTTTTCCTTCTTCTTCCAGAAGTAAACCATTTCTAGTTTTTGTTTTGTTTTGTTTTAATGCTGTTCCTTTACACAGAAGAAATTTTTTTAGGTCACTGTAGAGCATCAAGCTTAAAGAATCATGCTTAAGAATTTTTACTGAAAATAAAACAAAAAAAGAATCATGCTTGGTCGGGCATGGTGGCTCAAGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACGTGGCGAAACCTCATCTCTACAAAAAACACAAAAATTAGCCAGGTGTGGTGGCACGCACCTGCAGTCCCAGCTACTTAGGTGACTGAGGTGGATCACTTGAGCCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTTGCACCACTGCACTCCAGCCTGGGTAACAAAGTGAGATCCTATCTCAAAAAAAAAAAAAAAAAAAAAGAATCATACTTATTGGTTCATTGTTTCTGAAGAAACCAAAATGGGAAATGTACATTTTTTTGACATTATTACCAAATTATCACTGACATCTCAATCTTAATTACTGAAACAGTTTTCAAAAATTTATTTTCTCTTGAATAAAAAAATGCTAGATCATATCTGAGGTTAAACAACTTTTCTAGTAATTCCTCTAAGTCTTCTTGATGTTCAATTGTTTAATGTAGCTACACACCAAGAGTGTCTGCTGAAAATGTTTATTTGGGAGGCTGATCTAAATGTAAATCTAGTGTTCTAATCCAGAACTATGAAGTAAATGTCAGAATAGTTCTTGAGAGTTATCAGTGTATTTGATGATATAAATTACCCTGCTTAACAGTGATATTGTTAAAGACATTATCTTAGAGTATGTTTTTATATTTAAATTATTATTTTTCAAAACTAAAGAGGCTCCATTTGATTTCACATGGATGTCGGCTTTATCAAGGCATCTTTATAAATTGCTACTAAGTCACTAACAGTCTGAGGTCTGAACGAATTAGTCTGTACCATAAAGTAATCAAGTTGAAGTAAGAATTTTAACTACAATTCAAGTGAAAATTCAGAATGGGTCTTTTTAACAGCAACTGCTGTGCTTCTAGAAACTGAGAAAGGGGTTAGGGAAGATCTTTTAAGTTTCTAGAAATCTTCATGGGCTTTTACATTTTAATTTTTAGAATAAAAGTTATGTATACTGTCAGGAATATGGATATTGTCAGGTAATGGATACCTAAGTAGAATTGATCCTGTTTGATGCTGAACCTTATATGTAGCAATAGTTTAATGTGATCTGTACTTTTAGGCTAATAAACATGGTATTTATCCTACTAATGAATCATCTAAGCACAGAACAAGGGGAAAGTTGAGTGATTCTGTCTTTCCAGATGATTCACATTATATTCTGATTTTTTGAGTTTTACTCATATCCAAACGGTTCTTCATGCTGCCTGACATGCATTGATATACTTAAAAGCTGAAGGGTCACCCAGGAATATTTTATTTATTCTGTTCTTTTTAGATCCATGAGATGATCAGACAAGAAATTTTGGAGCAGGTCCTCAACAGGGTTGTTACCAGAGCATCTTCTCCCATCAGTCATTTCTTAGGTATTCAACTTTGAAAGAATGAATAAAGTTTTTAGAAATATTTTCATTTCAATGTCATAATCATTTGGTCCTGGGAAAAAAATTTTAATGAGCATTTAAATGCAGTATCTTTGATAGGATGCCAATAAAGGAAAT
Task1_train_21804
A variant was discovered in gene FANCI (FA complementation group I), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Fanconi anemia complementation group I
ATCTTTCAAACTGTAATCAACACATCTACATTCACACGTTTAACAAAAATAGAAAATTATGTTTGAAGGCATAGAATAGCGCTTTCTGACTCAGGTTAATATGCAGGACAGTAAAATTCTGCAGACTCCAAAAGTTAAAAGGAGAAAAATAATAACTCATATTTTTTTTGGCTGTCTTATATGCCAAATACTGTTTGAAGTACTTTACATGTATTGTCATGTTTAATCCTTATACAATGATTATTAATAATATCCTCATTTTTAAGATGAGGAATCACGGTACAGATACTTTTATAAAAACCAGTAATAAGTAGTGGTACTGGGATCTTGGACTCAGCCAGTCTGACTCTGGATCCTGTATTTTTAACCTCCAAGTTAACTGAAAATGTTGATTGCATGTACAAGTTTAGGAATAGAAGGAATTGGAATAGGAAAGATGATCCTAATCTGTACAATATCCAAAGCAAGAGCACAGGATGTGGGTGAGCCAAAGAAATAAAAACTTGGCTGCATTGTTCTTTGAACAGTTGGGAAATGTGTGTTAGAAGGCATTAGACATTAAAGATACCTTTCACCTGAGAAGTTAAAAAAGTAAAAAGCATTTATGAGCCAAGATGTCTTTTTTTTCTTACTATACACAGTTAAAACAGTTCTATGAGCCAAAACCTGATCTGCTGCCTCCTCTGAAATTAGAAGCTTGTATTCTGACCCAAGGAGATAAGATCTCTCTACAAGAACCACTGGTGAGACTTTTATTCTTCCTTCAACCATTATTTTTAGTATTAAGGATAGGGTTGAACTTTGCAAAGAGATACCTTTCCCTGTGAAACTCTCTTCCTGGTTCTTCCAATGAATGTTTACTTTTAAGTCTTCCCTGCTTATCATTTCTGAACCATTATCATTTTGGATCTATTGGTAAGTTATCTCCATGTTAGCCCTTTACTAAATCAAGGCTTCCATCACTTCCCCCAGAGAATATTTTATCTCATTTATGAATCTTTGATTACATTCACTAAATAAATGTACTTTAGAATGGGGAGAGGGATGATGTCACCTACGAACAGATGAACCTAGGGGACCTGCTTCATTAGTCTAGAGGAAGTATATGATTTAGGCTGAACTAGGATTGGCACTGTTGAACCTTCAGAGGAGCTAGGCCTGGTTGACTTTCTGTTCTTATCTAGCCTCAGAAGGACAGCGAAGAGGATAAAAATGGAAACTCCCACCCCAAGTGACTTATAACTCATGGCAGAAGAAAGGAGGAAGTCTTTCAGTTGTCATATCTTGCCTTCATTTTTGTGCCTTCTGTGACATGAGATGTCCTCAGCCTAGATCTAAGATGCTGTGTTGGTCTCCTAAAGATTCCCTCAACATAAACCTCTATCTTTAGAATAGCCTCTGGGACTCAAATGAACTAGAGAAGATTTAACTTCACCACCTAGCTCCAGGGTTATTTATCAGACCAGAGATAGCACATCTAATGTTGCATTTTGAGGTGTCAGCCACTTAGGCCAATTTTCGGGGGGAAGCATTAGAAAAGGATGCTGCTGTTCAATTAATTTTCCCAGTTTTGTTAATTTAGATGGACTTAATTTGTAACGCCAATGAATCATTTTCTTTAGCCTTATAGATAAGAATTATTTGCTGGTTATGAACAACTTTATAAGTTATCCATCAACACTCAAGAGTATTTAATTTACTTATTTTCTCCTACAGGATTATCTGCTGTGTTGTATTCAGCATTGTTTGGCCTGGTATAAGAATACAGTCATACCCTTACAGCAGGGAGAGGAGGAAGAGGAGGAGGAAGAGGCATTCTACGAAGACCTAGATGATATATTGGAGTCCATTACTAATAGAATGATTAAGAGTGAGCTGGAAGACTTTGAACTGGTAATTGCTAAGTCCTCAGCTGTATTGAATGATGGAGTTCTTTAGTAGCTTGTTAATTTTTATCTTGTGTCTTTTAGGATAAATCAGCAGATTTTTCTCAGAGCACCAGTATTGGCATAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTTGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAATTTCCCAGACCCTGAATTCAAGAACTCCTAATTTTAACATGGAAATTTTGATTGGTGGTAGTATTGGACTTTAATACTCTGCAGGGACTGGTATAAATAAGGGAGGGGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGCTGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATAATGTAAAACTTAGCCAGGTGTTAGTGCCTGGGACCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGGTCACACCAGGGGAAACAAAACCCAGATAGATTGCTGTGACCTGGGAGTATTATATTAATGAAGTTCTATTCATTTATAATGTTACGTCTAAAATATGACATTTAAAGAAGCATTGTGATTATTATCATATGTAAAAGTAAACCACAATATTCTGATGTTTGTCCTTAGCGGTCTCTTTTTTGTTTTTTACAGTAAGAATAGGTTTGAGGACATTCTGAGCTTATTTATGTGTTACAAAAAACTCTCTGACATTCTTAATGAAAAAGCGGGTAAAGCCAAAACTAAAATGGCCAACAAGACAAGTGATAGTCTTTTGTCCATGAAATTTGTGTCCAGTCTTCTCACTGCTCTTTTCAGGTAAGGTTCTGCTAGAGTGCTTAAAGACAGCCACTCCCTGAGGATCGTATACCTACCTAGGCTCACTTGTTTCACCTCGTTTGGATTGTTTACAGTAAGAAATAAGTCAGGAGGTTTTATTTTTCTTGAAATAAAAGCTGGACAATCCTAGGTAGGTACTTTAAGTAGGTACCTTGAATTATTAAAGGACAAATGAGAAACAGTGGGCCAATAAATGAAAAGATAGGGATGAATTCCAGCAGGGTGTTTTAAGAAAATCTATGTAAGTAGCTTGTACAAGATAACAGATATAAAAAGGTAGGGGGTGCCAGGCATGGTGCCTCACTCCTGTAATCCCAGTACTTTGGTAGACTGAGGTGGGTGGATCACCTGAGGTCAAAAGTTCAAGATCAGCCATGACCGATATGGTGCGACCTCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCGGCTACTTGGGAGGCCGAGGCAGGAGACTCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAATTCTGCCTAAATAAATAAAAAGGTAGGGGGGGTGACTGAATTAAAAATACAAAGGGACAAAAAAAAACCTAAAAGACTAAGACTGACATTTAAATTTTATCAAAGTAAAGGATTTGGGGAGGGAGAGAAAATGAGGAACCACTAAGAATAACGATTATAAAAGGGCAGCCATAGCAGTGACTATAGCTTGGGCTGCCTAGAGAGTCTGCCAGTCGGAACTTACTGGCAAGCTCTGTTGGGTGCTGCTGTTCTGAACAATTTCTAGAAAGCTTAATTCCATATACCAATAGCAGTAAGGGAATCTTCCTTTTTCTTTCTCTCTCTCTGTCTCTCTCTAGGGATAGTATCCAAAGCCACCAAGAAAGCCTTTCTGTTCTCAGGTCCAGCAATGAGTTTATGCGCTATGCAGTGAATGTAGCTCTGCAGAAAGTACAGCAGCTAAAGGAAACAGGGCATGTGAGTGGCCCTGATGGCCAAAACCCAGAAAAGAT
ATCTTTCAAACTGTAATCAACACATCTACATTCACACGTTTAACAAAAATAGAAAATTATGTTTGAAGGCATAGAATAGCGCTTTCTGACTCAGGTTAATATGCAGGACAGTAAAATTCTGCAGACTCCAAAAGTTAAAAGGAGAAAAATAATAACTCATATTTTTTTTGGCTGTCTTATATGCCAAATACTGTTTGAAGTACTTTACATGTATTGTCATGTTTAATCCTTATACAATGATTATTAATAATATCCTCATTTTTAAGATGAGGAATCACGGTACAGATACTTTTATAAAAACCAGTAATAAGTAGTGGTACTGGGATCTTGGACTCAGCCAGTCTGACTCTGGATCCTGTATTTTTAACCTCCAAGTTAACTGAAAATGTTGATTGCATGTACAAGTTTAGGAATAGAAGGAATTGGAATAGGAAAGATGATCCTAATCTGTACAATATCCAAAGCAAGAGCACAGGATGTGGGTGAGCCAAAGAAATAAAAACTTGGCTGCATTGTTCTTTGAACAGTTGGGAAATGTGTGTTAGAAGGCATTAGACATTAAAGATACCTTTCACCTGAGAAGTTAAAAAAGTAAAAAGCATTTATGAGCCAAGATGTCTTTTTTTTCTTACTATACACAGTTAAAACAGTTCTATGAGCCAAAACCTGATCTGCTGCCTCCTCTGAAATTAGAAGCTTGTATTCTGACCCAAGGAGATAAGATCTCTCTACAAGAACCACTGGTGAGACTTTTATTCTTCCTTCAACCATTATTTTTAGTATTAAGGATAGGGTTGAACTTTGCAAAGAGATACCTTTCCCTGTGAAACTCTCTTCCTGGTTCTTCCAATGAATGTTTACTTTTAAGTCTTCCCTGCTTATCATTTCTGAACCATTATCATTTTGGATCTATTGGTAAGTTATCTCCATGTTAGCCCTTTACTAAATCAAGGCTTCCATCACTTCCCCCAGAGAATATTTTATCTCATTTATGAATCTTTGATTACATTCACTAAATAAATGTACTTTAGAATGGGGAGAGGGATGATGTCACCTACGAACAGATGAACCTAGGGGACCTGCTTCATTAGTCTAGAGGAAGTATATGATTTAGGCTGAACTAGGATTGGCACTGTTGAACCTTCAGAGGAGCTAGGCCTGGTTGACTTTCTGTTCTTATCTAGCCTCAGAAGGACAGCGAAGAGGATAAAAATGGAAACTCCCACCCCAAGTGACTTATAACTCATGGCAGAAGAAAGGAGGAAGTCTTTCAGTTGTCATATCTTGCCTTCATTTTTGTGCCTTCTGTGACATGAGATGTCCTCAGCCTAGATCTAAGATGCTGTGTTGGTCTCCTAAAGATTCCCTCAACATAAACCTCTATCTTTAGAATAGCCTCTGGGACTCAAATGAACTAGAGAAGATTTAACTTCACCACCTAGCTCCAGGGTTATTTATCAGACCAGAGATAGCACATCTAATGTTGCATTTTGAGGTGTCAGCCACTTAGGCCAATTTTCGGGGGGAAGCATTAGAAAAGGATGCTGCTGTTCAATTAATTTTCCCAGTTTTGTTAATTTAGATGGACTTAATTTGTAACGCCAATGAATCATTTTCTTTAGCCTTATAGATAAGAATTATTTGCTGGTTATGAACAACTTTATAAGTTATCCATCAACACTCAAGAGTATTTAATTTACTTATTTTCTCCTACAGGATTATCTGCTGTGTTGTATTCAGCATTGTTTGGCCTGGTATAAGAATACAGTCATACCCTTACAGCAGGGAGAGGAGGAAGAGGAGGAGGAAGAGGCATTCTACGAAGACCTAGATGATATATTGGAGTCCATTACTAATAGAATGATTAAGAGTGAGCTGGAAGACTTTGAACTGGTAATTGCTAAGTCCTCAGCTGTATTGAATGATGGAGTTCTTTAGTAGCTTGTTAATTTTTATCTTGTGTCTTTTAGGATAAATCAGCAGATTTTTCTCAGAGCACCAGTATTGGCATAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTCGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAATTTCCCAGACCCTGAATTCAAGAACTCCTAATTTTAACATGGAAATTTTGATTGGTGGTAGTATTGGACTTTAATACTCTGCAGGGACTGGTATAAATAAGGGAGGGGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGCTGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATAATGTAAAACTTAGCCAGGTGTTAGTGCCTGGGACCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGGTCACACCAGGGGAAACAAAACCCAGATAGATTGCTGTGACCTGGGAGTATTATATTAATGAAGTTCTATTCATTTATAATGTTACGTCTAAAATATGACATTTAAAGAAGCATTGTGATTATTATCATATGTAAAAGTAAACCACAATATTCTGATGTTTGTCCTTAGCGGTCTCTTTTTTGTTTTTTACAGTAAGAATAGGTTTGAGGACATTCTGAGCTTATTTATGTGTTACAAAAAACTCTCTGACATTCTTAATGAAAAAGCGGGTAAAGCCAAAACTAAAATGGCCAACAAGACAAGTGATAGTCTTTTGTCCATGAAATTTGTGTCCAGTCTTCTCACTGCTCTTTTCAGGTAAGGTTCTGCTAGAGTGCTTAAAGACAGCCACTCCCTGAGGATCGTATACCTACCTAGGCTCACTTGTTTCACCTCGTTTGGATTGTTTACAGTAAGAAATAAGTCAGGAGGTTTTATTTTTCTTGAAATAAAAGCTGGACAATCCTAGGTAGGTACTTTAAGTAGGTACCTTGAATTATTAAAGGACAAATGAGAAACAGTGGGCCAATAAATGAAAAGATAGGGATGAATTCCAGCAGGGTGTTTTAAGAAAATCTATGTAAGTAGCTTGTACAAGATAACAGATATAAAAAGGTAGGGGGTGCCAGGCATGGTGCCTCACTCCTGTAATCCCAGTACTTTGGTAGACTGAGGTGGGTGGATCACCTGAGGTCAAAAGTTCAAGATCAGCCATGACCGATATGGTGCGACCTCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCGGCTACTTGGGAGGCCGAGGCAGGAGACTCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAATTCTGCCTAAATAAATAAAAAGGTAGGGGGGGTGACTGAATTAAAAATACAAAGGGACAAAAAAAAACCTAAAAGACTAAGACTGACATTTAAATTTTATCAAAGTAAAGGATTTGGGGAGGGAGAGAAAATGAGGAACCACTAAGAATAACGATTATAAAAGGGCAGCCATAGCAGTGACTATAGCTTGGGCTGCCTAGAGAGTCTGCCAGTCGGAACTTACTGGCAAGCTCTGTTGGGTGCTGCTGTTCTGAACAATTTCTAGAAAGCTTAATTCCATATACCAATAGCAGTAAGGGAATCTTCCTTTTTCTTTCTCTCTCTCTGTCTCTCTCTAGGGATAGTATCCAAAGCCACCAAGAAAGCCTTTCTGTTCTCAGGTCCAGCAATGAGTTTATGCGCTATGCAGTGAATGTAGCTCTGCAGAAAGTACAGCAGCTAAAGGAAACAGGGCATGTGAGTGGCCCTGATGGCCAAAACCCAGAAAAGAT
Task1_train_21805
The following genetic variant occurs in FANCI (FA complementation group I) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Fanconi anemia complementation group I
TAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTTGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAATTTCCCAGACCCTGAATTCAAGAACTCCTAATTTTAACATGGAAATTTTGATTGGTGGTAGTATTGGACTTTAATACTCTGCAGGGACTGGTATAAATAAGGGAGGGGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGCTGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATAATGTAAAACTTAGCCAGGTGTTAGTGCCTGGGACCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGGTCACACCAGGGGAAACAAAACCCAGATAGATTGCTGTGACCTGGGAGTATTATATTAATGAAGTTCTATTCATTTATAATGTTACGTCTAAAATATGACATTTAAAGAAGCATTGTGATTATTATCATATGTAAAAGTAAACCACAATATTCTGATGTTTGTCCTTAGCGGTCTCTTTTTTGTTTTTTACAGTAAGAATAGGTTTGAGGACATTCTGAGCTTATTTATGTGTTACAAAAAACTCTCTGACATTCTTAATGAAAAAGCGGGTAAAGCCAAAACTAAAATGGCCAACAAGACAAGTGATAGTCTTTTGTCCATGAAATTTGTGTCCAGTCTTCTCACTGCTCTTTTCAGGTAAGGTTCTGCTAGAGTGCTTAAAGACAGCCACTCCCTGAGGATCGTATACCTACCTAGGCTCACTTGTTTCACCTCGTTTGGATTGTTTACAGTAAGAAATAAGTCAGGAGGTTTTATTTTTCTTGAAATAAAAGCTGGACAATCCTAGGTAGGTACTTTAAGTAGGTACCTTGAATTATTAAAGGACAAATGAGAAACAGTGGGCCAATAAATGAAAAGATAGGGATGAATTCCAGCAGGGTGTTTTAAGAAAATCTATGTAAGTAGCTTGTACAAGATAACAGATATAAAAAGGTAGGGGGTGCCAGGCATGGTGCCTCACTCCTGTAATCCCAGTACTTTGGTAGACTGAGGTGGGTGGATCACCTGAGGTCAAAAGTTCAAGATCAGCCATGACCGATATGGTGCGACCTCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCGGCTACTTGGGAGGCCGAGGCAGGAGACTCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAATTCTGCCTAAATAAATAAAAAGGTAGGGGGGGTGACTGAATTAAAAATACAAAGGGACAAAAAAAAACCTAAAAGACTAAGACTGACATTTAAATTTTATCAAAGTAAAGGATTTGGGGAGGGAGAGAAAATGAGGAACCACTAAGAATAACGATTATAAAAGGGCAGCCATAGCAGTGACTATAGCTTGGGCTGCCTAGAGAGTCTGCCAGTCGGAACTTACTGGCAAGCTCTGTTGGGTGCTGCTGTTCTGAACAATTTCTAGAAAGCTTAATTCCATATACCAATAGCAGTAAGGGAATCTTCCTTTTTCTTTCTCTCTCTCTGTCTCTCTCTAGGGATAGTATCCAAAGCCACCAAGAAAGCCTTTCTGTTCTCAGGTCCAGCAATGAGTTTATGCGCTATGCAGTGAATGTAGCTCTGCAGAAAGTACAGCAGCTAAAGGAAACAGGGCATGTGAGTGGCCCTGATGGCCAAAACCCAGAAAAGATCTTTCAGAACCTCTGTGACATAACTCGGTAAGCCACTCCCACCCCTTAGAAACTTATTCCACTTGGCTGTGGTGTCTCCAAGAGAACAAACTGGGAACAGAGGATGAAGGTAATTTGAGGTTGGACATATTTTAGGAGTGAAAGAATATAAAACATTAGCCAGGTGGCAGGCACTTGTAATCCCAGCTACTCAGGAAGCTGAGGCAAGAGAATCACTTGAACCAGGAGGTGGAGGTCGCAGTGAGCTGAGTTCATACCACTGCACTCTAGCCTGGGTGACAGGGCAAGACTCTCAAAAGAAAAAAAAAAAAAAAAAAGCCAGACATGGCAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTGGATTACCTGAGGTTGGGAGTTCGAGACCAGTCTGACCAACATGGAGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGCACATGCCTGTCATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTCGAACCTGGGAGGCGGAGGTTGCAGTGAGCCTAGATTGTGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCATCTTAAAAGAGTGAAAAAAAGTGCAGTCATTGACATAGGGTCTTTTTTCTAGTCTTGCCTTCCCCTGGCGCCCCCCCCACCTTTTTTTTTTTGTTGTTGTTGTTGTTTTGGCTTTTTTTTTGGCTTTTTTTGAGAGAGTCTCGCTCTATTGCCCAGGGTGGAATGCCGTGGTGCAATCTCGGCTCACTACAACCCCTTCCTCCGAGGTTCAAGCAGTCCTTCCACTGCAGCTTTCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCCAACTACTTTTTAATTTTTAATTTTAGTTTATTTTATTTACTACTTTTTTTGGAGACAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGTGATCTTGGCTTACTGCAACCTCGGCCTCCCCGGTTCAAGTGATCCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGGCACCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCACCCTGGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAGCCACTGCACCTGGCCCTTATTTTTTTTTTTTTAATTTTCTGTAGAGATAGGATTTCACCATATTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATACGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGTGGCTTTTGTTTTTTCGTTTTTTTTGTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGCGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACATAGACATGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAACCGCCATTGTCATCGTGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCCACCTCCCTCCTGGACGGGGTGGCTGCCGGGTGGAGACGCTCCTCACTTCCCA
TAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTTGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAATTTCCCAGACCCTGAATTCAAGAACTCCTAATTTTAACATGGAAATTTTGATTGGTGGTAGTATTGGACTTTAATACTCTGCAGGGACTGGTATAAATAAGGGAGGGGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGCTGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATAATGTAAAACTTAGCCAGGTGTTAGTGCCTGGGACCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGGTCACACCAGGGGAAACAAAACCCAGATAGATTGCTGTGACCTGGGAGTATTATATTAATGAAGTTCTATTCATTTATAATGTTACGTCTAAAATATGACATTTAAAGAAGCATTGTGATTATTATCATATGTAAAAGTAAACCACAATATTCTGATGTTTGTCCTTAGCGGTCTCTTTTTTGTTTTTTACAGTAAGAATAGGTTTGAGGACATTCTGAGCTTATTTATGTGTTACAAAAAACTCTCTGACATTCTTAATGAAAAAGCGGGTAAAGCCAAAACTAAAATGGCCAACAAGACAAGTGATAGTCTTTTGTCCATGAAATTTGTGTCCAGTCTTCTCACTGCTCTTTTCAGGTAAGGTTCTGCTAGAGTGCTTAAAGACAGCCACTCCCTGAGGATCGTATACCTACCTAGGCTCACTTGTTTCACCTCGTTTGGATTGTTTACAGTAAGAAATAAGTCAGGAGGTTTTATTTTTCTTGAAATAAAAGCTGGACAATCCTAGGTAGGTACTTTAAGTAGGTACCTTGAATTATTAAAGGACAAATGAGAAACAGTGGGCCAATAAATGAAAAGATAGGGATGAATTCCAGCAGGGTGTTTTAAGAAAATCTATGTAAGTAGCTTGTACAAGATAACAGATATAAAAAGGTAGGGGGTGCCAGGCATGGTGCCTCACTCCTGTAATCCCAGTACTTTGGTAGACTGAGGTGGGTGGATCACCTGAGGTCAAAAGTTCAAGATCAGCCATGACCGATATGGTGCGACCTCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCGGCTACTTGGGAGGCCGAGGCAGGAGACTCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAATTCTGCCTAAATAAATAAAAAGGTAGGGGGGGTGACTGAATTAAAAATACAAAGGGACAAAAAAAAACCTAAAAGACTAAGACTGACATTTAAATTTTATCAAAGTAAAGGATTTGGGGAGGGAGAGAAAATGAGGAACCACTAAGAATAACGATTATAAAAGGGCAGCCATAGCAGTGACTATAGCTTGGGCTGCCTAGAGAGTCTGCCAGTCGGAACTTACTGGCAAGCTCTGTTGGGTGCTGCTGTTCTGAACAATTTCTAGAAAGCTTAATTCCATATACCAATAGCAGTAAGGGAATCTTCCTTTTTCTTTCTCTCTCTCTGTCTCTCTCTAGGGATAGTATCCAAAGCCACCAAGAAAGCCTTTCTGTTCTCAGGTCCAGCAATGAGTTTATGCGCTATGCAGTGAATGTAGCTCTGCAGAAAGTACAGCAGCTAAAGGAAACAGGGTATGTGAGTGGCCCTGATGGCCAAAACCCAGAAAAGATCTTTCAGAACCTCTGTGACATAACTCGGTAAGCCACTCCCACCCCTTAGAAACTTATTCCACTTGGCTGTGGTGTCTCCAAGAGAACAAACTGGGAACAGAGGATGAAGGTAATTTGAGGTTGGACATATTTTAGGAGTGAAAGAATATAAAACATTAGCCAGGTGGCAGGCACTTGTAATCCCAGCTACTCAGGAAGCTGAGGCAAGAGAATCACTTGAACCAGGAGGTGGAGGTCGCAGTGAGCTGAGTTCATACCACTGCACTCTAGCCTGGGTGACAGGGCAAGACTCTCAAAAGAAAAAAAAAAAAAAAAAAGCCAGACATGGCAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTGGATTACCTGAGGTTGGGAGTTCGAGACCAGTCTGACCAACATGGAGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGCACATGCCTGTCATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTCGAACCTGGGAGGCGGAGGTTGCAGTGAGCCTAGATTGTGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCATCTTAAAAGAGTGAAAAAAAGTGCAGTCATTGACATAGGGTCTTTTTTCTAGTCTTGCCTTCCCCTGGCGCCCCCCCCACCTTTTTTTTTTTGTTGTTGTTGTTGTTTTGGCTTTTTTTTTGGCTTTTTTTGAGAGAGTCTCGCTCTATTGCCCAGGGTGGAATGCCGTGGTGCAATCTCGGCTCACTACAACCCCTTCCTCCGAGGTTCAAGCAGTCCTTCCACTGCAGCTTTCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCCAACTACTTTTTAATTTTTAATTTTAGTTTATTTTATTTACTACTTTTTTTGGAGACAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGTGATCTTGGCTTACTGCAACCTCGGCCTCCCCGGTTCAAGTGATCCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGGCACCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCACCCTGGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAGCCACTGCACCTGGCCCTTATTTTTTTTTTTTTAATTTTCTGTAGAGATAGGATTTCACCATATTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATACGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGTGGCTTTTGTTTTTTCGTTTTTTTTGTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGCGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACATAGACATGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAACCGCCATTGTCATCGTGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCCACCTCCCTCCTGGACGGGGTGGCTGCCGGGTGGAGACGCTCCTCACTTCCCA
Task1_train_21806
This alteration occurs within gene FANCI (FA complementation group I) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
Pathogenic; Fanconi anemia complementation group I
TATGGAAAACTGTTCAGCAATATCTACTAAAATTAAACATATGCCTATGACTCAACAATTCGAATCACAACAGAAAAATGTGGAAGAATTCTCTTAGCAGCACTATTTTAGTAGGTAAAACAAACCTAAGTGTTCATCAGCAGTAGAAAGGATAAAAGAATTATGATATATTCACACAGTGGAATCCTATACAGCAAATAAGCATGAACAAACTACATGTACACACAACTTGGAGAGGATCTCACAAATGTACTGTAAAACAAAAGAAGCCAGACACAAGAAAGGGTACTTACTGTAGAATTCCGTTTAGATGAAGTTCAAAATTAGACAAAATTTATCTGTGATGTTAGAAGTCAGGATAGCAGTTTCCTTGGCGGGGCAAGTTAGGAGGGAGTCCCTAGAATACTCGTAATGTACTTGATCTGGATGCTAGTTACACAGTAATCTTAACTAATGATGGGAAATGTCTGCCTTCTTTGGGCATGTGGATAAAGAGGCATCATTGCAGACTAGCTGCTTGGCTGTAGTATGTGTAACACTGGGATGTTGTGCCTGAGACACGACAAGCTACCTCCTGTTCTGGTTAGGCACTCCACCCCACACACCCTGTACACATACCTGAGGGACCTGACTGGGTTATAACTTAACTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCAGGAATGCAATGGCACGGTCTTGGCTGACCGCAGCCTCCGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTATATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTGAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCACAACTTACCTTTTAATTTGCTTTTCTTCCTATTCCTAGAGGATGCCTTGTTTTGCAAGAGCTTGATGAACTTGCTCTTCAGCCTGCATGTTTCGTATAAGAGTCCTGTCATTCTGCTGCGTGACTTGTCCCAGGATATCCACGGGCATCTGGGAGATATAGACCAGGTACTATAATGAGCCTTCAGTACAATACCCTGTGTGGGGATGGGGGTCAAGGGAACAACCTTACTGTCATTAGGTCTCACCTCTCTTCTTTTCCCCAGGATGTAGAGGTGGAGAAAACAAACCACTTTGCAATAGTGAATTTGAGAACGGCTGCCCCCACTGTCTGTGTAAGTGTTGTACCTGAGCCATGGGGAATAGCTTTGTCATTCTTTCCATTCTACTCCATGTGAAGTGACTTGTGTCCTATAGCGGCTTGTGTCCTGAGGCCTGTAACCCACCTGTAGGTGGCCAGGTGACCACAGTTATTATATTACCCCCACAGCTGTGTGTAGTGAATCACACCAGGCACTCTTTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATAAAGACTTTCTAGTTAGTAGTAATCAATTTCTAAATCTCCTTTACTCTTAATTAGAAAACGAAGTTGGGTTTGAATGTGCCAATTTTATTTCCCTTTAGAAGAGGCCTCTTCTCAGGCAACCCTACCAAATCAGCCTGTTGAGAAAGCTATCATCATGCAACTGGGAACTCTGCTTACATTTTTCCACGAGCTGGTGCAGACAGCTCTGCCATCAGGCAGCTGTGTGGACACCTTGTTAAAGGACTTGTGCAAAATGTACACCACACTTACAGCCCTTGTCAGATATGTGAGTATTTGAGACAAGCAGATTCGCCCCACCATTCTACCCCAGTGAGCCAGGAGATGAGGATGGGGCAGCAGCCCACTGCTGCAGAATGCCCCTAAACAAGAGAGCATTTGCCTCCATCTTGGCAGGTCATGGTTTCATTTTAGTTTGGTCAGTAGGTGGCAGGCATCTCCACAGGCCAGGGAAAAACAGTTTATAATTCTAATCTGCTTTTGGGCCTGTCACGGTGGTTCATGCCTGTAATCCCAGCACTTTGGTAGGCTGAGACGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCGTTGGCAATAGAGTGAGACTCCATCTCAAAAATTAAAAAAATAAAGTAAAAATCTGCTTTTGGAGGCCCTTAATTCTTTGGCATGTATGTGGCACCTGATTGAGAATGAATGCCTCTTTTAAATACCTTCTAAGGTTTAATCTAAACTATAACTATCCTAGAATTAAATCTGGGCCCATAATGCATAGAAATTATACCATTTCTAACCAGTCTGGACACTTAAAGAGATGTTTATTCCTTTTTTCATTCCTTTAACATGTAGGTGTTAAATGCCTTATAGATCAAATACTAAGGTGGGGAAGAAAATTATTTTTTATAAAAATACAAGGCATACCCTGCCCTTACTGTTTATGTTCCTAGCAATGATCCATATTAAATACTTAGAAAGGCACAGATAATCCAAGAAAGATGTGGACCACCCCGCATCACAGCAGTGTGGCTCTCTCAGAATGTGTAGCTCTAGCTACATGTGGCTAAGCTGCTGTAGTGGAAATACTGAGAGCCTCTTCTCTTTATTGGCATCTTTAAAAGGAAAAACAGCAAAGTTGTTGGTTTTTTACATGCAGGGACTACCAGCCTGAGGAATTTTTAAAGAAATGAGCAAATCAGAAACAAACCCTTCATTACTTATTGTCTGGGAAGCTTAGGAGCTTTGGAGGAGAGGAATAAGGAAGCTTGTGTCTTGGCTTCTCTGTGAATTTTGTTTTTCCTCTTCAGTCAGAATGATGAGTCACACTCCATAGGCTCACTGCAGCAGTCACTTGTAGTTTCATAGGACAGTCTACTAAATCTAGGAATCTTTTTTTATTAGTATCTCCAGGTGTGTCAGAGCTCCGGAGGAATTCCAAAAAATATGGAAAAGCTGGTGAGTTGAGAATGCCTTTCCTAGGAATGGGGGAAGCACTTTTACTGCTGGTTACATTGGTTTCCTTCTCCCTTGTTGTGCAGGTGAAGCTGTCTGGTTCTCATCTGACCCCCCTGTGTTATTCTTTCATTTCTTACGTACAGGTAAGAGATTCAGAGGCAGTACCCAATAGGTCTTCAAGAAAGGATTTCTTACATGCCCAGGGGACTATTGATCACCTGAACTGAGCATATATAAACTTTTTTCCCTGCTTACCACAAGCTGGAGGCACCCATCAGAGACCAAGCCAAGGCTTGAGGGCTTTGCAGCAAGGACATCTTTATGTAAAGAAAACTGTTTCACTTAATTTGGAGAAAGGAAGCATATATGTTTGCATTTGGAGCAAGGAAGGAACAAGCATGCTCAGGCTCAAGGACTTGGTTTATTCCTGGGTGACTGAAAGTCCATGCCATGAGGCATCCTCTGGGAATGTGAGCAGAGTAGCAGCAAGCACATGAAGAAGGGTTGTGATGAGACGGCAGTGCAGTGAGGGCACTTTCAGGGAAGTGGAAGGACGTGGCTTTGTAAGTGTCATTTGGTCCTAAATACCATCAGATTCCTGCAGTACTTGAATCTCCTTTACTGTTTGCTTAAACCAGTTTTTTAACCTCACCACTATTGACATGTTGCGCTAGATAATTCTTTGTTGTGGGACCT
TATGGAAAACTGTTCAGCAATATCTACTAAAATTAAACATATGCCTATGACTCAACAATTCGAATCACAACAGAAAAATGTGGAAGAATTCTCTTAGCAGCACTATTTTAGTAGGTAAAACAAACCTAAGTGTTCATCAGCAGTAGAAAGGATAAAAGAATTATGATATATTCACACAGTGGAATCCTATACAGCAAATAAGCATGAACAAACTACATGTACACACAACTTGGAGAGGATCTCACAAATGTACTGTAAAACAAAAGAAGCCAGACACAAGAAAGGGTACTTACTGTAGAATTCCGTTTAGATGAAGTTCAAAATTAGACAAAATTTATCTGTGATGTTAGAAGTCAGGATAGCAGTTTCCTTGGCGGGGCAAGTTAGGAGGGAGTCCCTAGAATACTCGTAATGTACTTGATCTGGATGCTAGTTACACAGTAATCTTAACTAATGATGGGAAATGTCTGCCTTCTTTGGGCATGTGGATAAAGAGGCATCATTGCAGACTAGCTGCTTGGCTGTAGTATGTGTAACACTGGGATGTTGTGCCTGAGACACGACAAGCTACCTCCTGTTCTGGTTAGGCACTCCACCCCACACACCCTGTACACATACCTGAGGGACCTGACTGGGTTATAACTTAACTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCAGGAATGCAATGGCACGGTCTTGGCTGACCGCAGCCTCCGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTATATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTGAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCACAACTTACCTTTTAATTTGCTTTTCTTCCTATTCCTAGAGGATGCCTTGTTTTGCAAGAGCTTGATGAACTTGCTCTTCAGCCTGCATGTTTCGTATAAGAGTCCTGTCATTCTGCTGCGTGACTTGTCCCAGGATATCCACGGGCATCTGGGAGATATAGACCAGGTACTATAATGAGCCTTCAGTACAATACCCTGTGTGGGGATGGGGGTCAAGGGAACAACCTTACTGTCATTAGGTCTCACCTCTCTTCTTTTCCCCAGGATGTAGAGGTGGAGAAAACAAACCACTTTGCAATAGTGAATTTGAGAACGGCTGCCCCCACTGTCTGTGTAAGTGTTGTACCTGAGCCATGGGGAATAGCTTTGTCATTCTTTCCATTCTACTCCATGTGAAGTGACTTGTGTCCTATAGCGGCTTGTGTCCTGAGGCCTGTAACCCACCTGTAGGTGGCCAGGTGACCACAGTTATTATATTACCCCCACAGCTGTGTGTAGTGAATCACACCAGGCACTCTTTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATAAAGACTTTCTAGTTAGTAGTAATCAATTTCTAAATCTCCTTTACTCTTAATTAGAAAACGAAGTTGGGTTTGAATGTGCCAATTTTATTTCCCTTTAGAAGAGGCCTCTTCTCAGGCAACCCTACCAAATCAGCCTGTTGAGAAAGCTATCATCATGCAACTGGGAACTCTGCTTACATTTTTCCACGAGCTGGTGCAGACAGCTCTGCCATCAGGCAGCTGTGTGGACACCTTGTTAAAGGACTTGTGCAAAATGTACACCACACTTATAGCCCTTGTCAGATATGTGAGTATTTGAGACAAGCAGATTCGCCCCACCATTCTACCCCAGTGAGCCAGGAGATGAGGATGGGGCAGCAGCCCACTGCTGCAGAATGCCCCTAAACAAGAGAGCATTTGCCTCCATCTTGGCAGGTCATGGTTTCATTTTAGTTTGGTCAGTAGGTGGCAGGCATCTCCACAGGCCAGGGAAAAACAGTTTATAATTCTAATCTGCTTTTGGGCCTGTCACGGTGGTTCATGCCTGTAATCCCAGCACTTTGGTAGGCTGAGACGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCGTTGGCAATAGAGTGAGACTCCATCTCAAAAATTAAAAAAATAAAGTAAAAATCTGCTTTTGGAGGCCCTTAATTCTTTGGCATGTATGTGGCACCTGATTGAGAATGAATGCCTCTTTTAAATACCTTCTAAGGTTTAATCTAAACTATAACTATCCTAGAATTAAATCTGGGCCCATAATGCATAGAAATTATACCATTTCTAACCAGTCTGGACACTTAAAGAGATGTTTATTCCTTTTTTCATTCCTTTAACATGTAGGTGTTAAATGCCTTATAGATCAAATACTAAGGTGGGGAAGAAAATTATTTTTTATAAAAATACAAGGCATACCCTGCCCTTACTGTTTATGTTCCTAGCAATGATCCATATTAAATACTTAGAAAGGCACAGATAATCCAAGAAAGATGTGGACCACCCCGCATCACAGCAGTGTGGCTCTCTCAGAATGTGTAGCTCTAGCTACATGTGGCTAAGCTGCTGTAGTGGAAATACTGAGAGCCTCTTCTCTTTATTGGCATCTTTAAAAGGAAAAACAGCAAAGTTGTTGGTTTTTTACATGCAGGGACTACCAGCCTGAGGAATTTTTAAAGAAATGAGCAAATCAGAAACAAACCCTTCATTACTTATTGTCTGGGAAGCTTAGGAGCTTTGGAGGAGAGGAATAAGGAAGCTTGTGTCTTGGCTTCTCTGTGAATTTTGTTTTTCCTCTTCAGTCAGAATGATGAGTCACACTCCATAGGCTCACTGCAGCAGTCACTTGTAGTTTCATAGGACAGTCTACTAAATCTAGGAATCTTTTTTTATTAGTATCTCCAGGTGTGTCAGAGCTCCGGAGGAATTCCAAAAAATATGGAAAAGCTGGTGAGTTGAGAATGCCTTTCCTAGGAATGGGGGAAGCACTTTTACTGCTGGTTACATTGGTTTCCTTCTCCCTTGTTGTGCAGGTGAAGCTGTCTGGTTCTCATCTGACCCCCCTGTGTTATTCTTTCATTTCTTACGTACAGGTAAGAGATTCAGAGGCAGTACCCAATAGGTCTTCAAGAAAGGATTTCTTACATGCCCAGGGGACTATTGATCACCTGAACTGAGCATATATAAACTTTTTTCCCTGCTTACCACAAGCTGGAGGCACCCATCAGAGACCAAGCCAAGGCTTGAGGGCTTTGCAGCAAGGACATCTTTATGTAAAGAAAACTGTTTCACTTAATTTGGAGAAAGGAAGCATATATGTTTGCATTTGGAGCAAGGAAGGAACAAGCATGCTCAGGCTCAAGGACTTGGTTTATTCCTGGGTGACTGAAAGTCCATGCCATGAGGCATCCTCTGGGAATGTGAGCAGAGTAGCAGCAAGCACATGAAGAAGGGTTGTGATGAGACGGCAGTGCAGTGAGGGCACTTTCAGGGAAGTGGAAGGACGTGGCTTTGTAAGTGTCATTTGGTCCTAAATACCATCAGATTCCTGCAGTACTTGAATCTCCTTTACTGTTTGCTTAAACCAGTTTTTTAACCTCACCACTATTGACATGTTGCGCTAGATAATTCTTTGTTGTGGGACCT
Task1_train_21807
Gene FANCI (FA complementation group I) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Fanconi anemia complementation group I
TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACATTGCTGGCAAAGGTGAAAATTAGTACAGCCTCTCCAGAGGCTTAGCAATGACTACTGAATCCCATTCTGATGTAGCAGTTTCACTTTTAGGATATACAGGCCTGTGTACAGGATGGTCCTCACAACATTATTTATAAAAGTGAAATATTAGAAACAAAGATATCCATTAATAGAGGACTGGCTAAATAGGTTATAATATATTTATACTGGAGAGATATGAAAAAAATAAACATCTAAATGTTCAGCTCTCTGGAATTATCTCCAAGATAATGTTAAAAAAAATTTGTACAGTATCCTCATGGGTTAAAAATACACACACACACACACACACACACACGTAGGACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCACACACACACACACACACACACACACACAAATGTAGGACCTACAAATTACAGTTCACGTTAGGGGGAAAGATATATAATCACAGACACACACACACACACACAAATGTAGGACCTACAAATTACAATTCACGTTAGGAGGAAAGACACACACACAAAAACGTAGGACCACACACAAAAATGTAGGACCTTTCGTTAGGGGGAAAGACACACACACACACACGTAGAACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCCCAGCAGTGAAAATTCATACCCAGACCAGAACAAGGAAATAGAGCTAGGGCCAAAATAGGCTTAAGAATTTCAAGTCAGAAAAGCAACTAAATTTCTACAAGTGATCCTGCCCTCCTCAGCCATTTTCTAGATAACAACAAATACTGGAATTATAAATGAAATGGATCAGTGCAATTATCTCTACTGGCATTTGGGTCCTTCCAGATTGAACTGCCAAAAATTTTAGATTACTGGTATACAACTGCATTTGATTGGGAGACAGACTAGTTTTCCCCTAAAGCCATACAGTTTTGTAAGTGACAGCTTCAGAGGAAAACTTCAAAAACCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCCCATTTACCTTCTTGACAGATCTGGCAAACTGAAGCAGCACAACTACAATGGAGGAAAAGAGACTCTGGGCCATTTGTGTGTTTGCCATCCCCCCTCTCCCCCCCCCCCCCTTTTTTTTTTTGAGACTGTGTCTCATTCTGTCACCCAGGCTGGAGTGCACATTCAAGTGATCCTCTGGCCTCAGCCTCCAGAGTAGCTGGGACTACAGTCATATGCCATCATACCCCACTAGTTTTTTGGGTTTGTTTTTGTAGAGATGGGGTCTCACTATGCTGCCCAGGCTGGTCTCAAACTCCTGGCCTGAAGTGATCCTTCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACTCAGCCTCTTTGCTGTTCTTGATCTGATGACCTGAACCCCAGCATACAGAAGGAAGTGGGTGCGTGCTTGCTTTAGGTAGAAATGGAAAGGTTTCTCAGAGGTGAACTAAAAATGGCTTAAGCTGTTCTGGCAGGACCTATGAGTAGGGAGATGTCCCATGCTTACAATCTTGTCATAGGTGAACCTGATGCAGCACATGAAGCTCAGCACCTCACGAGACTTCAAGATCAAAGGAAACATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGT
TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACATTGCTGGCAAAGGTGAAAATTAGTACAGCCTCTCCAGAGGCTTAGCAATGACTACTGAATCCCATTCTGATGTAGCAGTTTCACTTTTAGGATATACAGGCCTGTGTACAGGATGGTCCTCACAACATTATTTATAAAAGTGAAATATTAGAAACAAAGATATCCATTAATAGAGGACTGGCTAAATAGGTTATAATATATTTATACTGGAGAGATATGAAAAAAATAAACATCTAAATGTTCAGCTCTCTGGAATTATCTCCAAGATAATGTTAAAAAAAATTTGTACAGTATCCTCATGGGTTAAAAATACACACACACACACACACACACACACGTAGGACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCACACACACACACACACACACACACACACAAATGTAGGACCTACAAATTACAGTTCACGTTAGGGGGAAAGATATATAATCACAGACACACACACACACACACAAATGTAGGACCTACAAATTACAATTCACGTTAGGAGGAAAGACACACACACAAAAACGTAGGACCACACACAAAAATGTAGGACCTTTCGTTAGGGGGAAAGACACACACACACACACGTAGAACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCCCAGCAGTGAAAATTCATACCCAGACCAGAACAAGGAAATAGAGCTAGGGCCAAAATAGGCTTAAGAATTTCAAGTCAGAAAAGCAACTAAATTTCTACAAGTGATCCTGCCCTCCTCAGCCATTTTCTAGATAACAACAAATACTGGAATTATAAATGAAATGGATCAGTGCAATTATCTCTACTGGCATTTGGGTCCTTCCAGATTGAACTGCCAAAAATTTTAGATTACTGGTATACAACTGCATTTGATTGGGAGACAGACTAGTTTTCCCCTAAAGCCATACAGTTTTGTAAGTGACAGCTTCAGAGGAAAACTTCAAAAACCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCCCATTTACCTTCTTGACAGATCTGGCAAACTGAAGCAGCACAACTACAATGGAGGAAAAGAGACTCTGGGCCATTTGTGTGTTTGCCATCCCCCCTCTCCCCCCCCCCCCCTTTTTTTTTTTGAGACTGTGTCTCATTCTGTCACCCAGGCTGGAGTGCACATTCAAGTGATCCTCTGGCCTCAGCCTCCAGAGTAGCTGGGACTACAGTCATATGCCATCATACCCCACTAGTTTTTTGGGTTTGTTTTTGTAGAGATGGGGTCTCACTATGCTGCCCAGGCTGGTCTCAAACTCCTGGCCTGAAGTGATCCTTCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACTCAGCCTCTTTGCTGTTCTTGATCTGATGACCTGAACCCCAGCATACAGAAGGAAGTGGGTGCGTGCTTGCTTTAGGTAGAAATGGAAAGGTTTCTCAGAGGTGAACTAAAAATGGCTTAAGCTGTTCTGGCAGGACCTATGAGTAGGGAGATGTCCCATGCTTACAATCTTGTCATAGGTGAACCTGATGCAGCACATGAAGCTCAGCACCTCACAAGACTTCAAGATCAAAGGAAACATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGT
Task1_train_21808
Here’s a variant in FANCI (FA complementation group I) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Fanconi anemia
TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACATTGCTGGCAAAGGTGAAAATTAGTACAGCCTCTCCAGAGGCTTAGCAATGACTACTGAATCCCATTCTGATGTAGCAGTTTCACTTTTAGGATATACAGGCCTGTGTACAGGATGGTCCTCACAACATTATTTATAAAAGTGAAATATTAGAAACAAAGATATCCATTAATAGAGGACTGGCTAAATAGGTTATAATATATTTATACTGGAGAGATATGAAAAAAATAAACATCTAAATGTTCAGCTCTCTGGAATTATCTCCAAGATAATGTTAAAAAAAATTTGTACAGTATCCTCATGGGTTAAAAATACACACACACACACACACACACACACGTAGGACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCACACACACACACACACACACACACACACAAATGTAGGACCTACAAATTACAGTTCACGTTAGGGGGAAAGATATATAATCACAGACACACACACACACACACAAATGTAGGACCTACAAATTACAATTCACGTTAGGAGGAAAGACACACACACAAAAACGTAGGACCACACACAAAAATGTAGGACCTTTCGTTAGGGGGAAAGACACACACACACACACGTAGAACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCCCAGCAGTGAAAATTCATACCCAGACCAGAACAAGGAAATAGAGCTAGGGCCAAAATAGGCTTAAGAATTTCAAGTCAGAAAAGCAACTAAATTTCTACAAGTGATCCTGCCCTCCTCAGCCATTTTCTAGATAACAACAAATACTGGAATTATAAATGAAATGGATCAGTGCAATTATCTCTACTGGCATTTGGGTCCTTCCAGATTGAACTGCCAAAAATTTTAGATTACTGGTATACAACTGCATTTGATTGGGAGACAGACTAGTTTTCCCCTAAAGCCATACAGTTTTGTAAGTGACAGCTTCAGAGGAAAACTTCAAAAACCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCCCATTTACCTTCTTGACAGATCTGGCAAACTGAAGCAGCACAACTACAATGGAGGAAAAGAGACTCTGGGCCATTTGTGTGTTTGCCATCCCCCCTCTCCCCCCCCCCCCCTTTTTTTTTTTGAGACTGTGTCTCATTCTGTCACCCAGGCTGGAGTGCACATTCAAGTGATCCTCTGGCCTCAGCCTCCAGAGTAGCTGGGACTACAGTCATATGCCATCATACCCCACTAGTTTTTTGGGTTTGTTTTTGTAGAGATGGGGTCTCACTATGCTGCCCAGGCTGGTCTCAAACTCCTGGCCTGAAGTGATCCTTCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACTCAGCCTCTTTGCTGTTCTTGATCTGATGACCTGAACCCCAGCATACAGAAGGAAGTGGGTGCGTGCTTGCTTTAGGTAGAAATGGAAAGGTTTCTCAGAGGTGAACTAAAAATGGCTTAAGCTGTTCTGGCAGGACCTATGAGTAGGGAGATGTCCCATGCTTACAATCTTGTCATAGGTGAACCTGATGCAGCACATGAAGCTCAGCACCTCACGAGACTTCAAGATCAAAGGAAACATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGT
TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACATTGCTGGCAAAGGTGAAAATTAGTACAGCCTCTCCAGAGGCTTAGCAATGACTACTGAATCCCATTCTGATGTAGCAGTTTCACTTTTAGGATATACAGGCCTGTGTACAGGATGGTCCTCACAACATTATTTATAAAAGTGAAATATTAGAAACAAAGATATCCATTAATAGAGGACTGGCTAAATAGGTTATAATATATTTATACTGGAGAGATATGAAAAAAATAAACATCTAAATGTTCAGCTCTCTGGAATTATCTCCAAGATAATGTTAAAAAAAATTTGTACAGTATCCTCATGGGTTAAAAATACACACACACACACACACACACACACGTAGGACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCACACACACACACACACACACACACACACAAATGTAGGACCTACAAATTACAGTTCACGTTAGGGGGAAAGATATATAATCACAGACACACACACACACACACAAATGTAGGACCTACAAATTACAATTCACGTTAGGAGGAAAGACACACACACAAAAACGTAGGACCACACACAAAAATGTAGGACCTTTCGTTAGGGGGAAAGACACACACACACACACGTAGAACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCCCAGCAGTGAAAATTCATACCCAGACCAGAACAAGGAAATAGAGCTAGGGCCAAAATAGGCTTAAGAATTTCAAGTCAGAAAAGCAACTAAATTTCTACAAGTGATCCTGCCCTCCTCAGCCATTTTCTAGATAACAACAAATACTGGAATTATAAATGAAATGGATCAGTGCAATTATCTCTACTGGCATTTGGGTCCTTCCAGATTGAACTGCCAAAAATTTTAGATTACTGGTATACAACTGCATTTGATTGGGAGACAGACTAGTTTTCCCCTAAAGCCATACAGTTTTGTAAGTGACAGCTTCAGAGGAAAACTTCAAAAACCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCCCATTTACCTTCTTGACAGATCTGGCAAACTGAAGCAGCACAACTACAATGGAGGAAAAGAGACTCTGGGCCATTTGTGTGTTTGCCATCCCCCCTCTCCCCCCCCCCCCCTTTTTTTTTTTGAGACTGTGTCTCATTCTGTCACCCAGGCTGGAGTGCACATTCAAGTGATCCTCTGGCCTCAGCCTCCAGAGTAGCTGGGACTACAGTCATATGCCATCATACCCCACTAGTTTTTTGGGTTTGTTTTTGTAGAGATGGGGTCTCACTATGCTGCCCAGGCTGGTCTCAAACTCCTGGCCTGAAGTGATCCTTCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACTCAGCCTCTTTGCTGTTCTTGATCTGATGACCTGAACCCCAGCATACAGAAGGAAGTGGGTGCGTGCTTGCTTTAGGTAGAAATGGAAAGGTTTCTCAGAGGTGAACTAAAAATGGCTTAAGCTGTTCTGGCAGGACCTATGAGTAGGGAGATGTCCCATGCTTACAATCTTGTCATAGGTGAACCTGATGCAGCACATGAAGCTCAGCACCTCACAAGACTTCAAGATCAAAGGAAACATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGT
Task1_train_21809
The gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Mitochondrial disease
ACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATCGACTGCACTGAAAAAGGCGACTGACTGGGGCAAGTCATTCAGACCCAGCTTGTAGGCAAACATGCACCTGAAAGAGACCCAATCTACTCTCACAGTCATGCCCCTCCTGTGAACAGATGCATCACTCCTGGAGCAATGACCCCACACCCCTTAGAGCAGGGCTTCCCCTGGACCAACACCCCATCTGTTCACTTAGCTAAGTCAAGAAAGGTGAAGGTCCAGCACTGTTTTCCATCCAGCAGCCTAACCTCCCACTGAGATACTGAAATGCAATTATGGACTCAACATACTTTTTTTTTTTTTCCCAGTTTGGTACACTTTATTAATTAATATACGAAATCACTTCCAATTGGGCCAGAGTTTGAAGCATAAATGAGGACTTTTAGCTTTGTTAAGCATAACCTCCCGGAGATGATGATTAAGAGGGCAATGGGAACAATGTTGAATATTGTAAACATCTGTTATTTACCCAATAATCAGGATAGATCATGGTTCCCAAACTGGTTCTGAGTGGCAGATCAACATGGAACGGTAATATTTAATTCATCCATATGAACTAGGAATTTTACTACAAGAAAATACAACTCAATATATAAAATATATAAGATATTTTTAAAAATCACATTTGAGTGTCCCCATTAACAGTGTTTTCTGTTAGCAGTCAAATAACAAACTTTTGGCACTTACTTAAGAAAGAAAACATTTATGGGAGAAAGAAAAACAAACATCTCAATTTTCTATGAAATGAGAAAAGGCTTCTGTCATTTGATTTTCCAAATAGAAAAGCGTGAGTACCACCCTTCGGAACAATTCCCCTAACCTCACTGCTTCCCTCAATGATCAGTCTTGGTATTTCACATTTTCAAACCCAATAACTCTTTTTTTACGAATTGAGGCTAGTCTTTTTAGGACTTCTACAACTTTTTAAAAATTAGAAATAAATAAATAAGCTGAAACATTCACTTCTAGGGGGATGAAAAGTCAAAACTGACCAGTCTGGCCCAAGGAACGCTCACCCAAAGCCCCACATAGGAGCACATGGCCAGGCTAGAGGCCATGGGCCCCGCATACCTGGTCAAGAGGTTGGTGATCTGCAAGGCCAGGGCAGCGCGGTAGCGGTCCTCCTCCCGCACCAGGTAGCGAACCTCGTCATGGATGCTGATGCAGAAGCGCCCATCTATGGCAAACTCTTCAAACAGCCACTTCATGGCCACAAGCATGAGGTGTAAGTAGTCAACAGCAGAGCTCTGTACCACCCAATTCACACGGCTGGTCATAAACTGGGAAGGGAAGGTGGGCAGAGGTGAAAGGGGCTATGCTACATACCAATTAACTCCAGGGTAGAAGCCCCAAGAGAAGCTTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGT
ACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATTGACTGCACTGAAAAAGGCGACTGACTGGGGCAAGTCATTCAGACCCAGCTTGTAGGCAAACATGCACCTGAAAGAGACCCAATCTACTCTCACAGTCATGCCCCTCCTGTGAACAGATGCATCACTCCTGGAGCAATGACCCCACACCCCTTAGAGCAGGGCTTCCCCTGGACCAACACCCCATCTGTTCACTTAGCTAAGTCAAGAAAGGTGAAGGTCCAGCACTGTTTTCCATCCAGCAGCCTAACCTCCCACTGAGATACTGAAATGCAATTATGGACTCAACATACTTTTTTTTTTTTTCCCAGTTTGGTACACTTTATTAATTAATATACGAAATCACTTCCAATTGGGCCAGAGTTTGAAGCATAAATGAGGACTTTTAGCTTTGTTAAGCATAACCTCCCGGAGATGATGATTAAGAGGGCAATGGGAACAATGTTGAATATTGTAAACATCTGTTATTTACCCAATAATCAGGATAGATCATGGTTCCCAAACTGGTTCTGAGTGGCAGATCAACATGGAACGGTAATATTTAATTCATCCATATGAACTAGGAATTTTACTACAAGAAAATACAACTCAATATATAAAATATATAAGATATTTTTAAAAATCACATTTGAGTGTCCCCATTAACAGTGTTTTCTGTTAGCAGTCAAATAACAAACTTTTGGCACTTACTTAAGAAAGAAAACATTTATGGGAGAAAGAAAAACAAACATCTCAATTTTCTATGAAATGAGAAAAGGCTTCTGTCATTTGATTTTCCAAATAGAAAAGCGTGAGTACCACCCTTCGGAACAATTCCCCTAACCTCACTGCTTCCCTCAATGATCAGTCTTGGTATTTCACATTTTCAAACCCAATAACTCTTTTTTTACGAATTGAGGCTAGTCTTTTTAGGACTTCTACAACTTTTTAAAAATTAGAAATAAATAAATAAGCTGAAACATTCACTTCTAGGGGGATGAAAAGTCAAAACTGACCAGTCTGGCCCAAGGAACGCTCACCCAAAGCCCCACATAGGAGCACATGGCCAGGCTAGAGGCCATGGGCCCCGCATACCTGGTCAAGAGGTTGGTGATCTGCAAGGCCAGGGCAGCGCGGTAGCGGTCCTCCTCCCGCACCAGGTAGCGAACCTCGTCATGGATGCTGATGCAGAAGCGCCCATCTATGGCAAACTCTTCAAACAGCCACTTCATGGCCACAAGCATGAGGTGTAAGTAGTCAACAGCAGAGCTCTGTACCACCCAATTCACACGGCTGGTCATAAACTGGGAAGGGAAGGTGGGCAGAGGTGAAAGGGGCTATGCTACATACCAATTAACTCCAGGGTAGAAGCCCCAAGAGAAGCTTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGT
Task1_train_21810
Consider this mutation in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is this a benign change or a disease-causing variant?
Pathogenic; Progressive sclerosing poliodystrophy
GAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATCGACTGCACTGAAAAAGGCGACTGACTGGGGCAAGTCATTCAGACCCAGCTTGTAGGCAAACATGCACCTGAAAGAGACCCAATCTACTCTCACAGTCATGCCCCTCCTGTGAACAGATGCATCACTCCTGGAGCAATGACCCCACACCCCTTAGAGCAGGGCTTCCCCTGGACCAACACCCCATCTGTTCACTTAGCTAAGTCAAGAAAGGTGAAGGTCCAGCACTGTTTTCCATCCAGCAGCCTAACCTCCCACTGAGATACTGAAATGCAATTATGGACTCAACATACTTTTTTTTTTTTTCCCAGTTTGGTACACTTTATTAATTAATATACGAAATCACTTCCAATTGGGCCAGAGTTTGAAGCATAAATGAGGACTTTTAGCTTTGTTAAGCATAACCTCCCGGAGATGATGATTAAGAGGGCAATGGGAACAATGTTGAATATTGTAAACATCTGTTATTTACCCAATAATCAGGATAGATCATGGTTCCCAAACTGGTTCTGAGTGGCAGATCAACATGGAACGGTAATATTTAATTCATCCATATGAACTAGGAATTTTACTACAAGAAAATACAACTCAATATATAAAATATATAAGATATTTTTAAAAATCACATTTGAGTGTCCCCATTAACAGTGTTTTCTGTTAGCAGTCAAATAACAAACTTTTGGCACTTACTTAAGAAAGAAAACATTTATGGGAGAAAGAAAAACAAACATCTCAATTTTCTATGAAATGAGAAAAGGCTTCTGTCATTTGATTTTCCAAATAGAAAAGCGTGAGTACCACCCTTCGGAACAATTCCCCTAACCTCACTGCTTCCCTCAATGATCAGTCTTGGTATTTCACATTTTCAAACCCAATAACTCTTTTTTTACGAATTGAGGCTAGTCTTTTTAGGACTTCTACAACTTTTTAAAAATTAGAAATAAATAAATAAGCTGAAACATTCACTTCTAGGGGGATGAAAAGTCAAAACTGACCAGTCTGGCCCAAGGAACGCTCACCCAAAGCCCCACATAGGAGCACATGGCCAGGCTAGAGGCCATGGGCCCCGCATACCTGGTCAAGAGGTTGGTGATCTGCAAGGCCAGGGCAGCGCGGTAGCGGTCCTCCTCCCGCACCAGGTAGCGAACCTCGTCATGGATGCTGATGCAGAAGCGCCCATCTATGGCAAACTCTTCAAACAGCCACTTCATGGCCACAAGCATGAGGTGTAAGTAGTCAACAGCAGAGCTCTGTACCACCCAATTCACACGGCTGGTCATAAACTGGGAAGGGAAGGTGGGCAGAGGTGAAAGGGGCTATGCTACATACCAATTAACTCCAGGGTAGAAGCCCCAAGAGAAGCTTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGA
GAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATCGACTGCACTGAAAAAGGCGACTGACTGGGGCAAGTCATTCAGACCCAGCTTGTAGGCAAACATGCACCTGAAAGAGACCCAATCTACTCTCACAGTCATGCCCCTCCTGTGAACAGATGCATCACTCCTGGAGCAATGACCCCACACCCCTTAGAGCAGGGCTTCCCCTGGACCAACACCCCATCTGTTCACTTAGCTAAGTCAAGAAAGGTGAAGGTCCAGCACTGTTTTCCATCCAGCAGCCTAACCTCCCACTGAGATACTGAAATGCAATTATGGACTCAACATACTTTTTTTTTTTTTCCCAGTTTGGTACACTTTATTAATTAATATACGAAATCACTTCCAATTGGGCCAGAGTTTGAAGCATAAATGAGGACTTTTAGCTTTGTTAAGCATAACCTCCCGGAGATGATGATTAAGAGGGCAATGGGAACAATGTTGAATATTGTAAACATCTGTTATTTACCCAATAATCAGGATAGATCATGGTTCCCAAACTGGTTCTGAGTGGCAGATCAACATGGAACGGTAATATTTAATTCATCCATATGAACTAGGAATTTTACTACAAGAAAATACAACTCAATATATAAAATATATAAGATATTTTTAAAAATCACATTTGAGTGTCCCCATTAACAGTGTTTTCTGTTAGCAGTCAAATAACAAACTTTTGGCACTTACTTAAGAAAGAAAACATTTATGGGAGAAAGAAAAACAAACATCTCAATTTTCTATGAAATGAGAAAAGGCTTCTGTCATTTGATTTTCCAAATAGAAAAGCGTGAGTACCACCCTTCGGAACAATTCCCCTAACCTCACTGCTTCCCTCAATGATCAGTCTTGGTATTTCACATTTTCAAACCCAATAACTCTTTTTTTACGAATTGAGGCTAGTCTTTTTAGGACTTCTACAACTTTTTAAAAATTAGAAATAAATAAATAAGCTGAAACATTCACTTCTAGGGGGATGAAAAGTCAAAACTGACCAGTCTGGCCCAAGGAACGCTCACCCAAAGCCCCACATAGGAGCACATGGCCAGGCTAGAGGCCATGGGCCCCGCATACCTGGTCAAGAGGTTGGTGATCTGCAAGGCCAGGGCAGCGCGGTAGCGGTCCTCCTCCCGCACCAGGTAGCGAACCTCGTCATGGATGCTGATGCAGAAGCGCCCATCTATGGCAAACTCTTCAAACAGCCACTTCATGGCCACAAGCATGAGGTGTAAGTAGTCAACAGCAGAGCTCTGTACCACCCAATTCACACGGCTGGTCATAAACTGGGAAGGGAAGGTGGGCAGAGGTGAAAGGGGCTATGCTACATACCAATTAACTCCAGGGTAGAAGCCCCAAGAGAAGCTTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCAGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGA
Task1_train_21811
A genomic change on Chromosome 15 affects POLG (DNA polymerase gamma, catalytic subunit). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Progressive sclerosing poliodystrophy
TTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGG
TTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGAACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGG
Task1_train_21812
A change on Chromosome 15 affects gene POLG (DNA polymerase gamma, catalytic subunit). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Mitochondrial DNA depletion syndrome
TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTG
TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCACAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTG
Task1_train_21813
The gene POLG (DNA polymerase gamma, catalytic subunit) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Progressive sclerosing poliodystrophy
TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTG
TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCACAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTG
Task1_train_21814
Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Progressive sclerosing poliodystrophy
ACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCA
ACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTTGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCA
Task1_train_21815
The gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
TAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGT
TAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTCTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGT
Task1_train_21816
Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Progressive sclerosing poliodystrophy
GGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACG
GGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCATGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACG
Task1_train_21817
Gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Mitochondrial DNA depletion syndrome
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
Task1_train_21818
This mutation occurs in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Progressive sclerosing poliodystrophy
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
Task1_train_21819
A variant found in Chromosome 15 affects POLG (DNA polymerase gamma, catalytic subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Mitochondrial DNA depletion syndrome 4b
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
Task1_train_21820
Located on Chromosome 15, this mutation impacts POLG (DNA polymerase gamma, catalytic subunit). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
Task1_train_21821
Given this context: Chromosome 15, gene POLG (DNA polymerase gamma, catalytic subunit) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Progressive sclerosing poliodystrophy
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
Task1_train_21822
This gene mutation involves POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it associated with any clinical condition, or is it benign?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
Task1_train_21823
A change on Chromosome 15 affects gene POLG (DNA polymerase gamma, catalytic subunit). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
Task1_train_21824
The following genetic variant occurs in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Mitochondrial disease
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
Task1_train_21825
A variant affecting Chromosome 15, within the gene POLG (DNA polymerase gamma, catalytic subunit), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
CTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGA
CTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACAGCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGA
Task1_train_21826
This variant affects gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
Pathogenic; Progressive sclerosing poliodystrophy
CTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAA
CTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACTCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAA
Task1_train_21827
Here is a genetic alteration in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Progressive sclerosing poliodystrophy
GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGA
GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGCGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGA
Task1_train_21828
This variant affects the gene POLG (DNA polymerase gamma, catalytic subunit) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Mitochondrial DNA depletion syndrome
GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGA
GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGCGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGA
Task1_train_21829
A variant was discovered on Chromosome 15, affecting POLG (DNA polymerase gamma, catalytic subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Progressive sclerosing poliodystrophy
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21830
This variant impacts the gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21831
This alteration occurs within gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21832
Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Mitochondrial DNA depletion syndrome 4b
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21833
This is a variant in POLG (DNA polymerase gamma, catalytic subunit), located on Chromosome 15. Is this mutation a likely cause of disease or not?
Pathogenic; Mitochondrial disease
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21834
An alteration has been detected in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Progressive sclerosing poliodystrophy
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21835
A variant was discovered in gene POLG (DNA polymerase gamma, catalytic subunit), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Progressive sclerosing poliodystrophy
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21836
This is a variant in POLG (DNA polymerase gamma, catalytic subunit), located on Chromosome 15. Is this mutation a likely cause of disease or not?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21837
An alteration has been detected in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21838
The variant affects gene POLG (DNA polymerase gamma, catalytic subunit), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Mitochondrial DNA depletion syndrome 1
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21839
Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Mitochondrial DNA depletion syndrome 4b
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21840
This sequence variant lies in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21841
Located on Chromosome 15, this mutation impacts POLG (DNA polymerase gamma, catalytic subunit). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; POLG-related disorder
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21842
The gene POLG (DNA polymerase gamma, catalytic subunit) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21843
This alteration occurs within gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
Pathogenic; Mitochondrial DNA depletion syndrome
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21844
This genomic variant is located on Chromosome 15, within the POLG (DNA polymerase gamma, catalytic subunit) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; POLG-Related Spectrum Disorders
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21845
Here is a variant affecting POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Hereditary spastic paraplegia
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21846
A variant was discovered in gene POLG (DNA polymerase gamma, catalytic subunit), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Progressive sclerosing poliodystrophy
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21847
A genetic alteration is present in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21848
A mutation on Chromosome 15 affecting POLG (DNA polymerase gamma, catalytic subunit) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21849
A variant affecting Chromosome 15, within the gene POLG (DNA polymerase gamma, catalytic subunit), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Mitochondrial DNA depletion syndrome 4b
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21850
Gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21851
A mutation found in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Inborn genetic diseases
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
Task1_train_21852
The gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Progressive sclerosing poliodystrophy
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
Task1_train_21853
Gene POLG (DNA polymerase gamma, catalytic subunit), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Mitochondrial DNA depletion syndrome 4b
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
Task1_train_21854
This mutation occurs in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
Task1_train_21855
A variant was discovered on Chromosome 15, affecting POLG (DNA polymerase gamma, catalytic subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Progressive sclerosing poliodystrophy
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
Task1_train_21856
This variant affects gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
Task1_train_21857
A variant on Chromosome 15 in gene POLG (DNA polymerase gamma, catalytic subunit) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
Task1_train_21858
The gene POLG (DNA polymerase gamma, catalytic subunit) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Mitochondrial DNA depletion syndrome
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
Task1_train_21859
A variant affecting Chromosome 15, within the gene POLG (DNA polymerase gamma, catalytic subunit), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Mitochondrial DNA depletion syndrome 4b
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
Task1_train_21860
An alteration has been detected in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
Task1_train_21861
A variant was discovered on Chromosome 15, affecting POLG (DNA polymerase gamma, catalytic subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
Task1_train_21862
The gene POLG (DNA polymerase gamma, catalytic subunit), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Progressive sclerosing poliodystrophy
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
Task1_train_21863
Assess the clinical impact of this variant on gene POLG (DNA polymerase gamma, catalytic subunit), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
Task1_train_21864
Consider this mutation in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is this a benign change or a disease-causing variant?
Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
Task1_train_21865
The gene POLG (DNA polymerase gamma, catalytic subunit) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Progressive sclerosing poliodystrophy
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
Task1_train_21866
Here is a genetic alteration in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Inborn genetic diseases
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
Task1_train_21867
A mutation found in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Progressive sclerosing poliodystrophy
TGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGAC
TGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCAGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGAC
Task1_train_21868
The gene POLG (DNA polymerase gamma, catalytic subunit), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
TTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTG
TTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGTTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTG
Task1_train_21869
This mutation is located in gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Progressive sclerosing poliodystrophy
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21870
This alteration in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Progressive sclerosing poliodystrophy
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21871
Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Mitochondrial DNA depletion syndrome 4b
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21872
Consider this mutation in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is this a benign change or a disease-causing variant?
Pathogenic; POLG-Related Spectrum Disorders
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21873
A variant on Chromosome 15 in gene POLG (DNA polymerase gamma, catalytic subunit) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Inborn genetic diseases
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21874
This variant affects the gene POLG (DNA polymerase gamma, catalytic subunit) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Neurodevelopmental delay
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21875
This variant lies on Chromosome 15 and affects the gene POLG (DNA polymerase gamma, catalytic subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21876
This mutation is located in gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Progressive sclerosing poliodystrophy
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21877
With a mutation on Chromosome 15 in gene POLG (DNA polymerase gamma, catalytic subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Mitochondrial DNA depletion syndrome 4b
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21878
This variant lies on Chromosome 15 and affects the gene POLG (DNA polymerase gamma, catalytic subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21879
A variant has been detected on Chromosome 15 in POLG (DNA polymerase gamma, catalytic subunit). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21880
This variant lies on Chromosome 15 and affects the gene POLG (DNA polymerase gamma, catalytic subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Progressive sclerosing poliodystrophy
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21881
The gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Mitochondrial DNA depletion syndrome 4b
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21882
A variant has been detected on Chromosome 15 in POLG (DNA polymerase gamma, catalytic subunit). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21883
Located on Chromosome 15, this mutation impacts POLG (DNA polymerase gamma, catalytic subunit). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21884
A change on Chromosome 15 affects gene POLG (DNA polymerase gamma, catalytic subunit). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21885
This mutation is located in gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; POLG-related disorder
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21886
Gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21887
This sequence change occurs on Chromosome 15, altering POLG (DNA polymerase gamma, catalytic subunit). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21888
This variant affects gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
Pathogenic; Hereditary spastic paraplegia
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21889
A sequence alteration has been identified in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it disease-inducing or harmless?
Pathogenic; Tip-toe gait
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21890
This mutation is located in gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Mitochondrial DNA depletion syndrome 4b
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
Task1_train_21891
This variant lies on Chromosome 15 and affects the gene POLG (DNA polymerase gamma, catalytic subunit). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Progressive sclerosing poliodystrophy
TGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCA
TGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCGTCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCA
Task1_train_21892
With a mutation on Chromosome 15 in gene POLG (DNA polymerase gamma, catalytic subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Progressive sclerosing poliodystrophy
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
Task1_train_21893
The gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Mitochondrial DNA depletion syndrome 1
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
Task1_train_21894
A mutation found in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
Task1_train_21895
A variant has been detected on Chromosome 15 in POLG (DNA polymerase gamma, catalytic subunit). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Progressive sclerosing poliodystrophy
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
Task1_train_21896
Given a variant located on Chromosome 15 and affecting POLG (DNA polymerase gamma, catalytic subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
Task1_train_21897
This mutation occurs in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
Task1_train_21898
Gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Mitochondrial DNA depletion syndrome 4b
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
Task1_train_21899
Here’s a variant in POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Progressive sclerosing poliodystrophy
TAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGACGAGGCCACGTGTGGACAA
TAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCTTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGACGAGGCCACGTGTGGACAA