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
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TTTAAGTTCCAGATGGAAACATGTGGAAGGGCCTGTGGCAGAAAGAACTTGGAGATTTGAAGGACTGGAAGCAATTCTGCATGGCTGGAGCAGAGTGATGAAAGGGAGGTAGGCATGGGTCAGAACTTGCAGGACTTATTTTATCCTTACTTAAGGGTTTTGGACTGATAAAGCAATGGAAGCCACTGAAGAGCTTTAAGATGAGGATGGCATGGAGGGAAGATAAGTCACATAATCAGGTTTGTGTTTCAAAAACATCACTTTAGTTGCTGCGTAGAAGGGAACAAGTTAGGAAACGATTGCAGTAGTTCAGGTGAGAGATGGTGGTGGCTTGGGGTAATGTGTCAGTAGTGGAGATGGAGAAAAGTAGACAGATTTGGGAGATATTTAGTAGGTAACATTGACAGGACTTGGTAATGGATGTGGTGAAGGATGAAGGCAAAGTTGTTAAGAATGTTACCTAGGTTTCTGGTCTGAGCAGCTGAGTGGATGATGGTACCATTTATGGAGACGGGAAACACAGGAGGAAGAAGAGGAGGAACAGATTTTCTTTCTACTAGGCTGTACTTCCCCCTTCTATTTTCATAGCTACTCACTGAATTCTATCTGCTTCATGTGCCTCCATTTCATCCCATCTTTTCTGTTCTCCAGTCACCACCCTAGTACAGGTCTTTATCATTTCCACTAAAATAACTTCCAAATGGTCTCTTAGCATTTGCTGTTTCTTCTTACCTTCTCCCCACTTTAATCTGCACAAAGATGCTAGGTTCTGTTTCCTCAAACACTTGCAATCTTGTGAGATTGTCTTTTGCTCAAATTTTTTAATGGTTCTCAGTAATTTACGAAATAGAATCTAAATTCCTTAACCTGTTTACTTCCAGCCTATCTTTCCAGACTTCCTACTCACTATTTTCCTACTTGGATTCTACCTCAGCCATTTTACTCATTTTCCCCCAAAGAAATTTCTCATTTCCCGTATGAATGCCTTTGTTCATGATACCCTTCTCCATAATGTATACAACCTGGTTGTCTGGACTACCTATATTTAATCTCTAAGTTCCAGTTCAAGCTTTCCTCTGCTGCGAAACCTTGACATTTAAGAACACAGTTACATCTTTTACCTTGTTAACTTCTCAGCTTTTCTTTCTTTCTTTCTTCCTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCACTGCAAGCTCCTCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTTGTATTTTTGGTAGAGACGGGGGTTTCACCGTGTTAGCCAAAATGGTCTCGATCTCCTGACTTCGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCCGGCCTCTTTTTTTTTTTTTTTTTAAGAGACAGGGTCTTACCTTGTTGCCTAGGCTGGAGTACTGTGGCATGATCATAGCTCACTGCAGCCTCACACTCTTGGGCTCCCCTTCTCACTTGTTTTTATACCATTTAATTGGCACATAGCATTTATAGTGCTATTGGTTTATTCATTTATTTGTCAAATACTTTATTACATGCTTATGGTAATATATAATGTATTACATACTTGATATGCTGTTAAATGGAAGCTTTGTTCTAGGTAGTATGGTGAGTAGATGGTAACAAGTGTGGGCAAAAATTATGAAACCACTTGATTAGAATACAGATTCCTAATAAGGCAATTCCAGGGAATTTTCAGGATTATTTTGGTTAGGTTAAGAATCATCTTGCCACTGAGCTTAAGAAGAAGAAGAAAAAAGAATCAGCTACTTAAAGATAGTCCTAAGTTTGTTGAGCACCCATTGCATAATAGGTATGAAATATTCAGTTAACAGGGAAGGAAAACAAATCAAGTTTGTTTATTTCTGGAATCTTCACCCACCTCTGACGTTTTTCCCTTGTAGTTCTGTGATATGAGCAACAATGGACCAGAAGATTTTATCTCTAGCAGCAGAAAAAACAGCAGACAAACTGCAAGAATTTCTTCAAACCCTGAGAGAAGGTGATGTGAGTATTAGGAAGCATGTTCTGCTAAAAGTAAATGTCAGGCATGATGACACATTCAAAGGACATGTGAGAAAGAAAAATTACGCTGCTTCTTCATCTACTCCCCATTCACTGTAGGAGACAAGGATTTATTTAATAATAATTTATAGATGTAAAGAAATTGGGGTGAGGGAATGAGAGAAATAGACTACTTGAGGGCATTTGTGACCAAGTTTAAACCTGAAATAGTTTAAGAATAGAATGCTTTTACAACTGTATTTATAAAAGCAATTAGTATACTTTTATGGTCCTCAGAACAATCCTATTTGATGATAATATCCAGACTATAGTTACTGATTGAGACATTAGTTTTGCATTTTGATGCTTCTCTGTATTTTTCCGTAAAGAAATTAAGTTTATAAGCGGCAAAATATTTTGAAATTATTAGTAAAAATTAGGGCCTCTGTTTTCACTATAAGTGTAGGATTATAAAATGGGATAGTAATTGCCTTATATGTTAGGCTGTTTCTTCTCCCTAATGTTCTTTCTCAGCTGATATACTGCTCCTTTTTCCATAAGTGATCTCATCCTATCCAGGTCCCTGCCTGGAAAAGAATCCCTCTTCAAGGTATATGTACAAACAAGTAAAGACATTGAGTATCATGGGATTTTTTTCCTTTTTCTGTCAATTGATGAGTATTATGTTTTTAAGGGAATTTCTTTGTGTTAATGTTGTAGTTATTGAAGGAAGGTGCATCTTAGTGTGTGTTATCTGACATACTAACTAGGAATTGATGCAGTGTTGCTCTTTGATTTTTTTTTCTTTGAAATTATCCAAGATTGCCTTTATAGCTATTTTTTGAGATGACTTGTTGCATGAGTTGTAACTTGAATCATTCTATAGACAAGATTTGATTGAAACTAGCATTTAAATTATTTATTTAAAGTTTCATGCCTCAAATTGAAGGCGTGAACACTGTCAAATTGAAGACAGTGTTCCAGATGTTTTCTGACTCTAGGATAGAGTAATGCTAATATTTCCCTCATTTTTCCATTAATGCAAAATCAGCTTTTTGGCAGCAACATTATATTGTAGTCTCATTGCTCTTATATTTATTTTTGTATATGTTGATAAGTTGCTAAGTTTCCTTTATCTCTGAAGTCCTTTTAGAATCCATGTTAAAAACTATATATAGGCCAGGCATGGTGACTTACACCTGTAGTCCCAGCACTTTGGGAGGATTCCTTTAGGCCAGGAGTTCGAGATCAGCTTAGGCAACATAGTGAGACCCAGTTTCTAAAAACAACTACCAAAACAACAAACTTTATATCTGTTAACTGTCACCTTTTTTAGATTCATCTTGTTTTACTCCATCAAGATCATTTTGTATGATTCTGCTGACCGTATTAATCAGCTTTTTATCCTCTACAAATTTGTTAAGCATGTCAGTAATATATGCAGGCAGTTCATTTGATAAAATGTCCCACAGAAGATGAACTCAGAGTAAAAAATTATAAAACACATAAAGAAGTCCTGTGGCAAGAAAGACTCAAACAGAAATGGGAAAATTCATATTCAAGGATTTAGAGCAATCTGAAAAAAATCTTTAATTATTTAACACAAATACTTAATACAGTATTTAACTTTATTTATTTAAAGGTGGGATCTCACCCTTGCACAGGCTGGAGTGCAGTGGGGCGATCTCGGCACACTGCAGCCTCAACCTCCTGGGCTCATGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAAGCATGTGCCACCATGTCCGACTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCGCCATGCTTTCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCACCCACCTCAGCCTCCCACAGTGCCGGGATTACACGTGTGAGCCACTCTGCCTGACCTAGTATTTAAAATATTTGAAGATGTAAATGAAGGAATAGAACTCACAAA
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TTTAAGTTCCAGATGGAAACATGTGGAAGGGCCTGTGGCAGAAAGAACTTGGAGATTTGAAGGACTGGAAGCAATTCTGCATGGCTGGAGCAGAGTGATGAAAGGGAGGTAGGCATGGGTCAGAACTTGCAGGACTTATTTTATCCTTACTTAAGGGTTTTGGACTGATAAAGCAATGGAAGCCACTGAAGAGCTTTAAGATGAGGATGGCATGGAGGGAAGATAAGTCACATAATCAGGTTTGTGTTTCAAAAACATCACTTTAGTTGCTGCGTAGAAGGGAACAAGTTAGGAAACGATTGCAGTAGTTCAGGTGAGAGATGGTGGTGGCTTGGGGTAATGTGTCAGTAGTGGAGATGGAGAAAAGTAGACAGATTTGGGAGATATTTAGTAGGTAACATTGACAGGACTTGGTAATGGATGTGGTGAAGGATGAAGGCAAAGTTGTTAAGAATGTTACCTAGGTTTCTGGTCTGAGCAGCTGAGTGGATGATGGTACCATTTATGGAGACGGGAAACACAGGAGGAAGAAGAGGAGGAACAGATTTTCTTTCTACTAGGCTGTACTTCCCCCTTCTATTTTCATAGCTACTCACTGAATTCTATCTGCTTCATGTGCCTCCATTTCATCCCATCTTTTCTGTTCTCCAGTCACCACCCTAGTACAGGTCTTTATCATTTCCACTAAAATAACTTCCAAATGGTCTCTTAGCATTTGCTGTTTCTTCTTACCTTCTCCCCACTTTAATCTGCACAAAGATGCTAGGTTCTGTTTCCTCAAACACTTGCAATCTTGTGAGATTGTCTTTTGCTCAAATTTTTTAATGGTTCTCAGTAATTTACGAAATAGAATCTAAATTCCTTAACCTGTTTACTTCCAGCCTATCTTTCCAGACTTCCTACTCACTATTTTCCTACTTGGATTCTACCTCAGCCATTTTACTCATTTTCCCCCAAAGAAATTTCTCATTTCCCGTATGAATGCCTTTGTTCATGATACCCTTCTCCATAATGTATACAACCTGGTTGTCTGGACTACCTATATTTAATCTCTAAGTTCCAGTTCAAGCTTTCCTCTGCTGCGAAACCTTGACATTTAAGAACACAGTTACATCTTTTACCTTGTTAACTTCTCAGCTTTTCTTTCTTTCTTTCTTCCTTTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCGCTCACTGCAAGCTCCTCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTTGTATTTTTGGTAGAGACGGGGGTTTCACCGTGTTAGCCAAAATGGTCTCGATCTCCTGACTTCGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCCGGCCTCTTTTTTTTTTTTTTTTTAAGAGACAGGGTCTTACCTTGTTGCCTAGGCTGGAGTACTGTGGCATGATCATAGCTCACTGCAGCCTCACACTCTTGGGCTCCCCTTCTCACTTGTTTTTATACCATTTAATTGGCACATAGCATTTATAGTGCTATTGGTTTATTCATTTATTTGTCAAATACTTTATTACATGCTTATGGTAATATATAATGTATTACATACTTGATATGCTGTTAAATGGAAGCTTTGTTCTAGGTAGTATGGTGAGTAGATGGTAACAAGTGTGGGCAAAAATTATGAAACCACTTGATTAGAATACAGATTCCTAATAAGGCAATTCCAGGGAATTTTCAGGATTATTTTGGTTAGGTTAAGAATCATCTTGCCACTGAGCTTAAGAAGAAGAAGAAAAAAGAATCAGCTACTTAAAGATAGTCCTAAGTTTGTTGAGCACCCATTGCATAATAGGTATGAAATATTCAGTTAACAGGGAAGGAAAACAAATCAAGTTTGTTTATTTCTGGAATCTTCACCCACCTCTGACGTTTTTCCCTTGTAGTTCTGTGATATGAGCAACAACGGACCAGAAGATTTTATCTCTAGCAGCAGAAAAAACAGCAGACAAACTGCAAGAATTTCTTCAAACCCTGAGAGAAGGTGATGTGAGTATTAGGAAGCATGTTCTGCTAAAAGTAAATGTCAGGCATGATGACACATTCAAAGGACATGTGAGAAAGAAAAATTACGCTGCTTCTTCATCTACTCCCCATTCACTGTAGGAGACAAGGATTTATTTAATAATAATTTATAGATGTAAAGAAATTGGGGTGAGGGAATGAGAGAAATAGACTACTTGAGGGCATTTGTGACCAAGTTTAAACCTGAAATAGTTTAAGAATAGAATGCTTTTACAACTGTATTTATAAAAGCAATTAGTATACTTTTATGGTCCTCAGAACAATCCTATTTGATGATAATATCCAGACTATAGTTACTGATTGAGACATTAGTTTTGCATTTTGATGCTTCTCTGTATTTTTCCGTAAAGAAATTAAGTTTATAAGCGGCAAAATATTTTGAAATTATTAGTAAAAATTAGGGCCTCTGTTTTCACTATAAGTGTAGGATTATAAAATGGGATAGTAATTGCCTTATATGTTAGGCTGTTTCTTCTCCCTAATGTTCTTTCTCAGCTGATATACTGCTCCTTTTTCCATAAGTGATCTCATCCTATCCAGGTCCCTGCCTGGAAAAGAATCCCTCTTCAAGGTATATGTACAAACAAGTAAAGACATTGAGTATCATGGGATTTTTTTCCTTTTTCTGTCAATTGATGAGTATTATGTTTTTAAGGGAATTTCTTTGTGTTAATGTTGTAGTTATTGAAGGAAGGTGCATCTTAGTGTGTGTTATCTGACATACTAACTAGGAATTGATGCAGTGTTGCTCTTTGATTTTTTTTTCTTTGAAATTATCCAAGATTGCCTTTATAGCTATTTTTTGAGATGACTTGTTGCATGAGTTGTAACTTGAATCATTCTATAGACAAGATTTGATTGAAACTAGCATTTAAATTATTTATTTAAAGTTTCATGCCTCAAATTGAAGGCGTGAACACTGTCAAATTGAAGACAGTGTTCCAGATGTTTTCTGACTCTAGGATAGAGTAATGCTAATATTTCCCTCATTTTTCCATTAATGCAAAATCAGCTTTTTGGCAGCAACATTATATTGTAGTCTCATTGCTCTTATATTTATTTTTGTATATGTTGATAAGTTGCTAAGTTTCCTTTATCTCTGAAGTCCTTTTAGAATCCATGTTAAAAACTATATATAGGCCAGGCATGGTGACTTACACCTGTAGTCCCAGCACTTTGGGAGGATTCCTTTAGGCCAGGAGTTCGAGATCAGCTTAGGCAACATAGTGAGACCCAGTTTCTAAAAACAACTACCAAAACAACAAACTTTATATCTGTTAACTGTCACCTTTTTTAGATTCATCTTGTTTTACTCCATCAAGATCATTTTGTATGATTCTGCTGACCGTATTAATCAGCTTTTTATCCTCTACAAATTTGTTAAGCATGTCAGTAATATATGCAGGCAGTTCATTTGATAAAATGTCCCACAGAAGATGAACTCAGAGTAAAAAATTATAAAACACATAAAGAAGTCCTGTGGCAAGAAAGACTCAAACAGAAATGGGAAAATTCATATTCAAGGATTTAGAGCAATCTGAAAAAAATCTTTAATTATTTAACACAAATACTTAATACAGTATTTAACTTTATTTATTTAAAGGTGGGATCTCACCCTTGCACAGGCTGGAGTGCAGTGGGGCGATCTCGGCACACTGCAGCCTCAACCTCCTGGGCTCATGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGAGTACAAGCATGTGCCACCATGTCCGACTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCGCCATGCTTTCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCACCCACCTCAGCCTCCCACAGTGCCGGGATTACACGTGTGAGCCACTCTGCCTGACCTAGTATTTAAAATATTTGAAGATGTAAATGAAGGAATAGAACTCACAAA
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Task1_train_21803
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This variant affects gene FANCI (FA complementation group I) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
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Pathogenic; Fanconi anemia complementation group I
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AGGCTGGTCTTGAACTTCTGAGCTCAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGGTCCTGGCCGTTTCTTTTCCTTTTTAAAGGAAACAGTCTCACTATGTTGCCCAGGCTGGAGTGCAATGGCTATTCACAGGCTCTATTATAGCACGGTAAAGCCTCAAACTCCTGGCCTCAAGTGATGCTCCCACCTCAGTAGCTGGGACTATAGGCATGTAGCCCTGTGCCTGGCTTGGCCTTTCTTCTTTTTTTTTTTTTTTTTTTTCTGAAGACGTAGGAACTTTTCACTATGTTGCCCAGGCTAGACTTGATCTTCTGGGCTCAACTGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAATAATAGGTGCATGCCACTGCATCTGACTCATGGCCTCTTTTTAAAGTGAGTAAAAAACATTAAGAGTTTTATTTACTTTGTTGAAATTTGGAGCGTACAGTTGGAATTCAATTATTGATTAGCCAGTTTAGAGAAATTCATTTAAAACCACATGGAAAACATCAGTAACTGTCCTGGTTTTTATTTTAATTTCAGGATATACATTAGCTGTTGTAACAGTCTTTACTATGTCATGCTTTCACTGTGTATTAAATATATTTTAAAGTTTCATAATTTAAGCATAATTTATGGTAGGCCTCTTCTAGGCCTGGAATTCTTGTTTATTAATAGATTGAATTTACATGAGCTTTGCAGTAGGGCAAATTTGAAATTAGAGTTTATTGTTTGAGTGTTTTACCCATTGTTAGGCCTTAAAGCTTTTTAATCTTTGTATCTCATTATTCTTTTTCCTGAGGTTTATACTTGTGTCTCCAGTATTTTCCCAACCCAATCTCTTAAAGTTGGGCTAAAGAAGGAGGTACTCACTAACCAGGAAATTCCTGGAAAGCTTCCCATCTTCTGGAAATCTCAACTGTCATAGGACTTGAAAGCATCTCCATGTATAATTAGCCTGGAGTGGGTACTTGCCACTGGGTGGGACCAAACCTCAGCTGGGAGAGATTTGGATAGCCTTATTAGATCCTCTAAAATAACTGGCTGGTTAGTTACACATGCTTGCCCCAGTCAGTTAATGAACCTTTAAATAATGCATTCTCCATTTTATGTAATTGAATTTTTGGCTCTTCAGAGTATGAATATTGTTAACTCTGTTAAAGTCTTATAATTTATCCATAACTGTCTACTTCATTCTGTAGTGCTGCATTATAATTTGTTGCAATTTAACAGGTAGATATAATGGATAAAGGTTATATTCACATTATTTCCACTGTGGGGTATAACATTAAGTGGTATAAAACCACCAATGATTCTACTCTTTTACAAAAGATTATTTGTAGTTTTAGCTTATGCTGTTGATACCAGATCACTCATCCATTTATAGTATAAATATCTACTGAGTGTCTTTTATATGCCACCCTTGTGCTAAGCAATGTGGGTAAAAATATGACTATACTATGACCTCTCTCCTAGAGAATCTCTGTCTTTGGAGGGGAGCTAATTTGTAAGCCTCTACATAAGCGTTGTCAGTGCTGTAGGGTAATAGAAGAGGCAGCAATGAACTTCTCATCATGAAATCTTGAATAGGAATCTTTAATTTTTTTAATACTCTCTAGCTTCTGGATTTTCCCAGTATTCTGTGTGTCATTGGAGACCACTTGCCTGCTGTTCCCATTATGGTACATTTAGGAATTCAGAATTCTGTCAGACGATGTGTGTAAAGAAAAGGTTTATATGCAGAGTACGTTGATTATCTAGGTCAAGTTTGGGAAATGTATAACAGGGCAATGAGTATAAAGGTAAGAATATCTCACTAAGTTTTTCTTTTTTAACTAAGCTTTGTGTTCTTGTAGCGTTCATAGCTGGGACCATGTTACTCAGGGCCTCGTAGAACTTGGTTTCATTTTGATGGATTCATATGGGCCAAAGAAGGTTCTTGATGGAAAAACTATTGAAACCAGCCCAAGTCTTTCTAGAATGCCAAACCAGCATGCATGTAAGCTCGGAGCTAATATCCTGTTGGAAACTTTTAAGGTGAGACACTATTTTGGCAACCACTCCCTAATTTTGTTTAAATAATCCAAGTAGGGCTTGGCATTTGCCTGGGAGTTTGGTGGACAAGGAAATTTGAGTATGTATTAGTTTGACAGAGGATATATGACAGAGATTAGGATAATATTGAAACATTATAGATCCAGTTTGATGGAATACTTACTTACGTATTCTTCTATGTAAGTTTTTCATTTATTCCACTTAATCCAATTGTTTCTGACCTAGAAGTTTGAATATAAGACAGCTTTTTCATGATTTTTCCTTCTTCTTCCAGAAGTAAACCATTTCTAGTTTTTGTTTTGTTTTGTTTTAATGCTGTTCCTTTACACAGAAGAAATTTTTTTAGGTCACTGTAGAGCATCAAGCTTAAAGAATCATGCTTAAGAATTTTTACTGAAAATAAAACAAAAAAAGAATCATGCTTGGTCGGGCATGGTGGCTCAAGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACGTGGCGAAACCTCATCTCTACAAAAAACACAAAAATTAGCCAGGTGTGGTGGCACGCACCTGCAGTCCCAGCTACTTAGGTGACTGAGGTGGATCACTTGAGCCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTTGCACCACTGCACTCCAGCCTGGGTAACAAAGTGAGATCCTATCTCAAAAAAAAAAAAAAAAAAAAAGAATCATACTTATTGGTTCATTGTTTCTGAAGAAACCAAAATGGGAAATGTACATTTTTTTGACATTATTACCAAATTATCACTGACATCTCAATCTTAATTACTGAAACAGTTTTCAAAAATTTATTTTCTCTTGAATAAAAAAATGCTAGATCATATCTGAGGTTAAACAACTTTTCTAGTAATTCCTCTAAGTCTTCTTGATGTTCAATTGTTTAATGTAGCTACACACCAAGAGTGTCTGCTGAAAATGTTTATTTGGGAGGCTGATCTAAATGTAAATCTAGTGTTCTAATCCAGAACTATGAAGTAAATGTCAGAATAGTTCTTGAGAGTTATCAGTGTATTTGATGATATAAATTACCCTGCTTAACAGTGATATTGTTAAAGACATTATCTTAGAGTATGTTTTTATATTTAAATTATTATTTTTCAAAACTAAAGAGGCTCCATTTGATTTCACATGGATGTCGGCTTTATCAAGGCATCTTTATAAATTGCTACTAAGTCACTAACAGTCTGAGGTCTGAACGAATTAGTCTGTACCATAAAGTAATCAAGTTGAAGTAAGAATTTTAACTACAATTCAAGTGAAAATTCAGAATGGGTCTTTTTAACAGCAACTGCTGTGCTTCTAGAAACTGAGAAAGGGGTTAGGGAAGATCTTTTAAGTTTCTAGAAATCTTCATGGGCTTTTACATTTTAATTTTTAGAATAAAAGTTATGTATACTGTCAGGAATATGGATATTGTCAGGTAATGGATACCTAAGTAGAATTGATCCTGTTTGATGCTGAACCTTATATGTAGCAATAGTTTAATGTGATCTGTACTTTTAGGCTAATAAACATGGTATTTATCCTACTAATGAATCATCTAAGCACAGAACAAGGGGAAAGTTGAGTGATTCTGTCTTTCCAGATGATTCACATTATATTCTGATTTTTTGAGTTTTACTCATATCCAAACGGTTCTTCATGCTGCCTGACATGCATTGATATACTTAAAAGCTGAAGGGTCACCCAGGAATATTTTATTTATTCTGTTCTTTTTAGATCCATGAGATGATCAGACAAGAAATTTTGGAGCAGGTCCTCAACAGGGTTGTTACCAGAGCATCTTCTCCCATCAGTCATTTCTTAGGTATTCAACTTTGAAAGAATGAATAAAGTTTTTAGAAATATTTTCATTTCAATGTCATAATCATTTGGTCCTGGGAAAAAAATTTTAATGAGCATTTAAATGCAGTATCTTTGATAGGATGCCAATAAAGGAAAT
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AGGCTGGTCTTGAACTTCTGAGCTCAAGCAATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGGTCCTGGCCGTTTCTTTTCCTTTTTAAAGGAAACAGTCTCACTATGTTGCCCAGGCTGGAGTGCAATGGCTATTCACAGGCTCTATTATAGCACGGTAAAGCCTCAAACTCCTGGCCTCAAGTGATGCTCCCACCTCAGTAGCTGGGACTATAGGCATGTAGCCCTGTGCCTGGCTTGGCCTTTCTTCTTTTTTTTTTTTTTTTTTTTCTGAAGACGTAGGAACTTTTCACTATGTTGCCCAGGCTAGACTTGATCTTCTGGGCTCAACTGATCCTCCTGCCTCAGCCTCTCAAGTAGCTGGGACAATAATAGGTGCATGCCACTGCATCTGACTCATGGCCTCTTTTTAAAGTGAGTAAAAAACATTAAGAGTTTTATTTACTTTGTTGAAATTTGGAGCGTACAGTTGGAATTCAATTATTGATTAGCCAGTTTAGAGAAATTCATTTAAAACCACATGGAAAACATCAGTAACTGTCCTGGTTTTTATTTTAATTTCAGGATATACATTAGCTGTTGTAACAGTCTTTACTATGTCATGCTTTCACTGTGTATTAAATATATTTTAAAGTTTCATAATTTAAGCATAATTTATGGTAGGCCTCTTCTAGGCCTGGAATTCTTGTTTATTAATAGATTGAATTTACATGAGCTTTGCAGTAGGGCAAATTTGAAATTAGAGTTTATTGTTTGAGTGTTTTACCCATTGTTAGGCCTTAAAGCTTTTTAATCTTTGTATCTCATTATTCTTTTTCCTGAGGTTTATACTTGTGTCTCCAGTATTTTCCCAACCCAATCTCTTAAAGTTGGGCTAAAGAAGGAGGTACTCACTAACCAGGAAATTCCTGGAAAGCTTCCCATCTTCTGGAAATCTCAACTGTCATAGGACTTGAAAGCATCTCCATGTATAATTAGCCTGGAGTGGGTACTTGCCACTGGGTGGGACCAAACCTCAGCTGGGAGAGATTTGGATAGCCTTATTAGATCCTCTAAAATAACTGGCTGGTTAGTTACACATGCTTGCCCCAGTCAGTTAATGAACCTTTAAATAATGCATTCTCCATTTTATGTAATTGAATTTTTGGCTCTTCAGAGTATGAATATTGTTAACTCTGTTAAAGTCTTATAATTTATCCATAACTGTCTACTTCATTCTGTAGTGCTGCATTATAATTTGTTGCAATTTAACAGGTAGATATAATGGATAAAGGTTATATTCACATTATTTCCACTGTGGGGTATAACATTAAGTGGTATAAAACCACCAATGATTCTACTCTTTTACAAAAGATTATTTGTAGTTTTAGCTTATGCTGTTGATACCAGATCACTCATCCATTTATAGTATAAATATCTACTGAGTGTCTTTTATATGCCACCCTTGTGCTAAGCAATGTGGGTAAAAATATGACTATACTATGACCTCTCTCCTAGAGAATCTCTGTCTTTGGAGGGGAGCTAATTTGTAAGCCTCTACATAAGCGTTGTCAGTGCTGTAGGGTAATAGAAGAGGCAGCAATGAACTTCTCATCATGAAATCTTGAATAGGAATCTTTAATTTTTTTAATACTCTCTAGCTTCTGGATTTTCCCAGTATTCTGTGTGTCATTGGAGACCACTTGCCTGCTGTTCCCATTATGGTACATTTAGGAATTCAGAATTCTGTCAGACGATGTGTGTAAAGAAAAGGTTTATATGCAGAGTACGTTGATTATCTAGGTCAAGTTTGGGAAATGTATAACAGGGCAATGAGTATAAAGGTAAGAATATCTCACTAAGTTTTTCTTTTTTAACTAAGCTTTGTGTTCTTGTAGCGTTCATAGCTGGGACCATGTTACTCAGGGCCTCGTAGAACTTGGTTTCATTTTGATGGATTCATATGGGCCAAAGAAGGTTCTTGATGGAAAAACTATTGAAACCAGCCCAAGTCTTTCTAGAATGCCAAACCAGCATGCATGTAAGCTCCGAGCTAATATCCTGTTGGAAACTTTTAAGGTGAGACACTATTTTGGCAACCACTCCCTAATTTTGTTTAAATAATCCAAGTAGGGCTTGGCATTTGCCTGGGAGTTTGGTGGACAAGGAAATTTGAGTATGTATTAGTTTGACAGAGGATATATGACAGAGATTAGGATAATATTGAAACATTATAGATCCAGTTTGATGGAATACTTACTTACGTATTCTTCTATGTAAGTTTTTCATTTATTCCACTTAATCCAATTGTTTCTGACCTAGAAGTTTGAATATAAGACAGCTTTTTCATGATTTTTCCTTCTTCTTCCAGAAGTAAACCATTTCTAGTTTTTGTTTTGTTTTGTTTTAATGCTGTTCCTTTACACAGAAGAAATTTTTTTAGGTCACTGTAGAGCATCAAGCTTAAAGAATCATGCTTAAGAATTTTTACTGAAAATAAAACAAAAAAAGAATCATGCTTGGTCGGGCATGGTGGCTCAAGCCTATAATCCCAACACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACGTGGCGAAACCTCATCTCTACAAAAAACACAAAAATTAGCCAGGTGTGGTGGCACGCACCTGCAGTCCCAGCTACTTAGGTGACTGAGGTGGATCACTTGAGCCCAGGAAGTCAAGGCTACAGTGAGCTGTGTTTGCACCACTGCACTCCAGCCTGGGTAACAAAGTGAGATCCTATCTCAAAAAAAAAAAAAAAAAAAAAGAATCATACTTATTGGTTCATTGTTTCTGAAGAAACCAAAATGGGAAATGTACATTTTTTTGACATTATTACCAAATTATCACTGACATCTCAATCTTAATTACTGAAACAGTTTTCAAAAATTTATTTTCTCTTGAATAAAAAAATGCTAGATCATATCTGAGGTTAAACAACTTTTCTAGTAATTCCTCTAAGTCTTCTTGATGTTCAATTGTTTAATGTAGCTACACACCAAGAGTGTCTGCTGAAAATGTTTATTTGGGAGGCTGATCTAAATGTAAATCTAGTGTTCTAATCCAGAACTATGAAGTAAATGTCAGAATAGTTCTTGAGAGTTATCAGTGTATTTGATGATATAAATTACCCTGCTTAACAGTGATATTGTTAAAGACATTATCTTAGAGTATGTTTTTATATTTAAATTATTATTTTTCAAAACTAAAGAGGCTCCATTTGATTTCACATGGATGTCGGCTTTATCAAGGCATCTTTATAAATTGCTACTAAGTCACTAACAGTCTGAGGTCTGAACGAATTAGTCTGTACCATAAAGTAATCAAGTTGAAGTAAGAATTTTAACTACAATTCAAGTGAAAATTCAGAATGGGTCTTTTTAACAGCAACTGCTGTGCTTCTAGAAACTGAGAAAGGGGTTAGGGAAGATCTTTTAAGTTTCTAGAAATCTTCATGGGCTTTTACATTTTAATTTTTAGAATAAAAGTTATGTATACTGTCAGGAATATGGATATTGTCAGGTAATGGATACCTAAGTAGAATTGATCCTGTTTGATGCTGAACCTTATATGTAGCAATAGTTTAATGTGATCTGTACTTTTAGGCTAATAAACATGGTATTTATCCTACTAATGAATCATCTAAGCACAGAACAAGGGGAAAGTTGAGTGATTCTGTCTTTCCAGATGATTCACATTATATTCTGATTTTTTGAGTTTTACTCATATCCAAACGGTTCTTCATGCTGCCTGACATGCATTGATATACTTAAAAGCTGAAGGGTCACCCAGGAATATTTTATTTATTCTGTTCTTTTTAGATCCATGAGATGATCAGACAAGAAATTTTGGAGCAGGTCCTCAACAGGGTTGTTACCAGAGCATCTTCTCCCATCAGTCATTTCTTAGGTATTCAACTTTGAAAGAATGAATAAAGTTTTTAGAAATATTTTCATTTCAATGTCATAATCATTTGGTCCTGGGAAAAAAATTTTAATGAGCATTTAAATGCAGTATCTTTGATAGGATGCCAATAAAGGAAAT
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Task1_train_21804
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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.
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Pathogenic; Fanconi anemia complementation group I
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ATCTTTCAAACTGTAATCAACACATCTACATTCACACGTTTAACAAAAATAGAAAATTATGTTTGAAGGCATAGAATAGCGCTTTCTGACTCAGGTTAATATGCAGGACAGTAAAATTCTGCAGACTCCAAAAGTTAAAAGGAGAAAAATAATAACTCATATTTTTTTTGGCTGTCTTATATGCCAAATACTGTTTGAAGTACTTTACATGTATTGTCATGTTTAATCCTTATACAATGATTATTAATAATATCCTCATTTTTAAGATGAGGAATCACGGTACAGATACTTTTATAAAAACCAGTAATAAGTAGTGGTACTGGGATCTTGGACTCAGCCAGTCTGACTCTGGATCCTGTATTTTTAACCTCCAAGTTAACTGAAAATGTTGATTGCATGTACAAGTTTAGGAATAGAAGGAATTGGAATAGGAAAGATGATCCTAATCTGTACAATATCCAAAGCAAGAGCACAGGATGTGGGTGAGCCAAAGAAATAAAAACTTGGCTGCATTGTTCTTTGAACAGTTGGGAAATGTGTGTTAGAAGGCATTAGACATTAAAGATACCTTTCACCTGAGAAGTTAAAAAAGTAAAAAGCATTTATGAGCCAAGATGTCTTTTTTTTCTTACTATACACAGTTAAAACAGTTCTATGAGCCAAAACCTGATCTGCTGCCTCCTCTGAAATTAGAAGCTTGTATTCTGACCCAAGGAGATAAGATCTCTCTACAAGAACCACTGGTGAGACTTTTATTCTTCCTTCAACCATTATTTTTAGTATTAAGGATAGGGTTGAACTTTGCAAAGAGATACCTTTCCCTGTGAAACTCTCTTCCTGGTTCTTCCAATGAATGTTTACTTTTAAGTCTTCCCTGCTTATCATTTCTGAACCATTATCATTTTGGATCTATTGGTAAGTTATCTCCATGTTAGCCCTTTACTAAATCAAGGCTTCCATCACTTCCCCCAGAGAATATTTTATCTCATTTATGAATCTTTGATTACATTCACTAAATAAATGTACTTTAGAATGGGGAGAGGGATGATGTCACCTACGAACAGATGAACCTAGGGGACCTGCTTCATTAGTCTAGAGGAAGTATATGATTTAGGCTGAACTAGGATTGGCACTGTTGAACCTTCAGAGGAGCTAGGCCTGGTTGACTTTCTGTTCTTATCTAGCCTCAGAAGGACAGCGAAGAGGATAAAAATGGAAACTCCCACCCCAAGTGACTTATAACTCATGGCAGAAGAAAGGAGGAAGTCTTTCAGTTGTCATATCTTGCCTTCATTTTTGTGCCTTCTGTGACATGAGATGTCCTCAGCCTAGATCTAAGATGCTGTGTTGGTCTCCTAAAGATTCCCTCAACATAAACCTCTATCTTTAGAATAGCCTCTGGGACTCAAATGAACTAGAGAAGATTTAACTTCACCACCTAGCTCCAGGGTTATTTATCAGACCAGAGATAGCACATCTAATGTTGCATTTTGAGGTGTCAGCCACTTAGGCCAATTTTCGGGGGGAAGCATTAGAAAAGGATGCTGCTGTTCAATTAATTTTCCCAGTTTTGTTAATTTAGATGGACTTAATTTGTAACGCCAATGAATCATTTTCTTTAGCCTTATAGATAAGAATTATTTGCTGGTTATGAACAACTTTATAAGTTATCCATCAACACTCAAGAGTATTTAATTTACTTATTTTCTCCTACAGGATTATCTGCTGTGTTGTATTCAGCATTGTTTGGCCTGGTATAAGAATACAGTCATACCCTTACAGCAGGGAGAGGAGGAAGAGGAGGAGGAAGAGGCATTCTACGAAGACCTAGATGATATATTGGAGTCCATTACTAATAGAATGATTAAGAGTGAGCTGGAAGACTTTGAACTGGTAATTGCTAAGTCCTCAGCTGTATTGAATGATGGAGTTCTTTAGTAGCTTGTTAATTTTTATCTTGTGTCTTTTAGGATAAATCAGCAGATTTTTCTCAGAGCACCAGTATTGGCATAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTTGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAATTTCCCAGACCCTGAATTCAAGAACTCCTAATTTTAACATGGAAATTTTGATTGGTGGTAGTATTGGACTTTAATACTCTGCAGGGACTGGTATAAATAAGGGAGGGGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGCTGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATAATGTAAAACTTAGCCAGGTGTTAGTGCCTGGGACCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGGTCACACCAGGGGAAACAAAACCCAGATAGATTGCTGTGACCTGGGAGTATTATATTAATGAAGTTCTATTCATTTATAATGTTACGTCTAAAATATGACATTTAAAGAAGCATTGTGATTATTATCATATGTAAAAGTAAACCACAATATTCTGATGTTTGTCCTTAGCGGTCTCTTTTTTGTTTTTTACAGTAAGAATAGGTTTGAGGACATTCTGAGCTTATTTATGTGTTACAAAAAACTCTCTGACATTCTTAATGAAAAAGCGGGTAAAGCCAAAACTAAAATGGCCAACAAGACAAGTGATAGTCTTTTGTCCATGAAATTTGTGTCCAGTCTTCTCACTGCTCTTTTCAGGTAAGGTTCTGCTAGAGTGCTTAAAGACAGCCACTCCCTGAGGATCGTATACCTACCTAGGCTCACTTGTTTCACCTCGTTTGGATTGTTTACAGTAAGAAATAAGTCAGGAGGTTTTATTTTTCTTGAAATAAAAGCTGGACAATCCTAGGTAGGTACTTTAAGTAGGTACCTTGAATTATTAAAGGACAAATGAGAAACAGTGGGCCAATAAATGAAAAGATAGGGATGAATTCCAGCAGGGTGTTTTAAGAAAATCTATGTAAGTAGCTTGTACAAGATAACAGATATAAAAAGGTAGGGGGTGCCAGGCATGGTGCCTCACTCCTGTAATCCCAGTACTTTGGTAGACTGAGGTGGGTGGATCACCTGAGGTCAAAAGTTCAAGATCAGCCATGACCGATATGGTGCGACCTCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCGGCTACTTGGGAGGCCGAGGCAGGAGACTCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAATTCTGCCTAAATAAATAAAAAGGTAGGGGGGGTGACTGAATTAAAAATACAAAGGGACAAAAAAAAACCTAAAAGACTAAGACTGACATTTAAATTTTATCAAAGTAAAGGATTTGGGGAGGGAGAGAAAATGAGGAACCACTAAGAATAACGATTATAAAAGGGCAGCCATAGCAGTGACTATAGCTTGGGCTGCCTAGAGAGTCTGCCAGTCGGAACTTACTGGCAAGCTCTGTTGGGTGCTGCTGTTCTGAACAATTTCTAGAAAGCTTAATTCCATATACCAATAGCAGTAAGGGAATCTTCCTTTTTCTTTCTCTCTCTCTGTCTCTCTCTAGGGATAGTATCCAAAGCCACCAAGAAAGCCTTTCTGTTCTCAGGTCCAGCAATGAGTTTATGCGCTATGCAGTGAATGTAGCTCTGCAGAAAGTACAGCAGCTAAAGGAAACAGGGCATGTGAGTGGCCCTGATGGCCAAAACCCAGAAAAGAT
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ATCTTTCAAACTGTAATCAACACATCTACATTCACACGTTTAACAAAAATAGAAAATTATGTTTGAAGGCATAGAATAGCGCTTTCTGACTCAGGTTAATATGCAGGACAGTAAAATTCTGCAGACTCCAAAAGTTAAAAGGAGAAAAATAATAACTCATATTTTTTTTGGCTGTCTTATATGCCAAATACTGTTTGAAGTACTTTACATGTATTGTCATGTTTAATCCTTATACAATGATTATTAATAATATCCTCATTTTTAAGATGAGGAATCACGGTACAGATACTTTTATAAAAACCAGTAATAAGTAGTGGTACTGGGATCTTGGACTCAGCCAGTCTGACTCTGGATCCTGTATTTTTAACCTCCAAGTTAACTGAAAATGTTGATTGCATGTACAAGTTTAGGAATAGAAGGAATTGGAATAGGAAAGATGATCCTAATCTGTACAATATCCAAAGCAAGAGCACAGGATGTGGGTGAGCCAAAGAAATAAAAACTTGGCTGCATTGTTCTTTGAACAGTTGGGAAATGTGTGTTAGAAGGCATTAGACATTAAAGATACCTTTCACCTGAGAAGTTAAAAAAGTAAAAAGCATTTATGAGCCAAGATGTCTTTTTTTTCTTACTATACACAGTTAAAACAGTTCTATGAGCCAAAACCTGATCTGCTGCCTCCTCTGAAATTAGAAGCTTGTATTCTGACCCAAGGAGATAAGATCTCTCTACAAGAACCACTGGTGAGACTTTTATTCTTCCTTCAACCATTATTTTTAGTATTAAGGATAGGGTTGAACTTTGCAAAGAGATACCTTTCCCTGTGAAACTCTCTTCCTGGTTCTTCCAATGAATGTTTACTTTTAAGTCTTCCCTGCTTATCATTTCTGAACCATTATCATTTTGGATCTATTGGTAAGTTATCTCCATGTTAGCCCTTTACTAAATCAAGGCTTCCATCACTTCCCCCAGAGAATATTTTATCTCATTTATGAATCTTTGATTACATTCACTAAATAAATGTACTTTAGAATGGGGAGAGGGATGATGTCACCTACGAACAGATGAACCTAGGGGACCTGCTTCATTAGTCTAGAGGAAGTATATGATTTAGGCTGAACTAGGATTGGCACTGTTGAACCTTCAGAGGAGCTAGGCCTGGTTGACTTTCTGTTCTTATCTAGCCTCAGAAGGACAGCGAAGAGGATAAAAATGGAAACTCCCACCCCAAGTGACTTATAACTCATGGCAGAAGAAAGGAGGAAGTCTTTCAGTTGTCATATCTTGCCTTCATTTTTGTGCCTTCTGTGACATGAGATGTCCTCAGCCTAGATCTAAGATGCTGTGTTGGTCTCCTAAAGATTCCCTCAACATAAACCTCTATCTTTAGAATAGCCTCTGGGACTCAAATGAACTAGAGAAGATTTAACTTCACCACCTAGCTCCAGGGTTATTTATCAGACCAGAGATAGCACATCTAATGTTGCATTTTGAGGTGTCAGCCACTTAGGCCAATTTTCGGGGGGAAGCATTAGAAAAGGATGCTGCTGTTCAATTAATTTTCCCAGTTTTGTTAATTTAGATGGACTTAATTTGTAACGCCAATGAATCATTTTCTTTAGCCTTATAGATAAGAATTATTTGCTGGTTATGAACAACTTTATAAGTTATCCATCAACACTCAAGAGTATTTAATTTACTTATTTTCTCCTACAGGATTATCTGCTGTGTTGTATTCAGCATTGTTTGGCCTGGTATAAGAATACAGTCATACCCTTACAGCAGGGAGAGGAGGAAGAGGAGGAGGAAGAGGCATTCTACGAAGACCTAGATGATATATTGGAGTCCATTACTAATAGAATGATTAAGAGTGAGCTGGAAGACTTTGAACTGGTAATTGCTAAGTCCTCAGCTGTATTGAATGATGGAGTTCTTTAGTAGCTTGTTAATTTTTATCTTGTGTCTTTTAGGATAAATCAGCAGATTTTTCTCAGAGCACCAGTATTGGCATAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTCGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAATTTCCCAGACCCTGAATTCAAGAACTCCTAATTTTAACATGGAAATTTTGATTGGTGGTAGTATTGGACTTTAATACTCTGCAGGGACTGGTATAAATAAGGGAGGGGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGCTGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATAATGTAAAACTTAGCCAGGTGTTAGTGCCTGGGACCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGGTCACACCAGGGGAAACAAAACCCAGATAGATTGCTGTGACCTGGGAGTATTATATTAATGAAGTTCTATTCATTTATAATGTTACGTCTAAAATATGACATTTAAAGAAGCATTGTGATTATTATCATATGTAAAAGTAAACCACAATATTCTGATGTTTGTCCTTAGCGGTCTCTTTTTTGTTTTTTACAGTAAGAATAGGTTTGAGGACATTCTGAGCTTATTTATGTGTTACAAAAAACTCTCTGACATTCTTAATGAAAAAGCGGGTAAAGCCAAAACTAAAATGGCCAACAAGACAAGTGATAGTCTTTTGTCCATGAAATTTGTGTCCAGTCTTCTCACTGCTCTTTTCAGGTAAGGTTCTGCTAGAGTGCTTAAAGACAGCCACTCCCTGAGGATCGTATACCTACCTAGGCTCACTTGTTTCACCTCGTTTGGATTGTTTACAGTAAGAAATAAGTCAGGAGGTTTTATTTTTCTTGAAATAAAAGCTGGACAATCCTAGGTAGGTACTTTAAGTAGGTACCTTGAATTATTAAAGGACAAATGAGAAACAGTGGGCCAATAAATGAAAAGATAGGGATGAATTCCAGCAGGGTGTTTTAAGAAAATCTATGTAAGTAGCTTGTACAAGATAACAGATATAAAAAGGTAGGGGGTGCCAGGCATGGTGCCTCACTCCTGTAATCCCAGTACTTTGGTAGACTGAGGTGGGTGGATCACCTGAGGTCAAAAGTTCAAGATCAGCCATGACCGATATGGTGCGACCTCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCGGCTACTTGGGAGGCCGAGGCAGGAGACTCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAATTCTGCCTAAATAAATAAAAAGGTAGGGGGGGTGACTGAATTAAAAATACAAAGGGACAAAAAAAAACCTAAAAGACTAAGACTGACATTTAAATTTTATCAAAGTAAAGGATTTGGGGAGGGAGAGAAAATGAGGAACCACTAAGAATAACGATTATAAAAGGGCAGCCATAGCAGTGACTATAGCTTGGGCTGCCTAGAGAGTCTGCCAGTCGGAACTTACTGGCAAGCTCTGTTGGGTGCTGCTGTTCTGAACAATTTCTAGAAAGCTTAATTCCATATACCAATAGCAGTAAGGGAATCTTCCTTTTTCTTTCTCTCTCTCTGTCTCTCTCTAGGGATAGTATCCAAAGCCACCAAGAAAGCCTTTCTGTTCTCAGGTCCAGCAATGAGTTTATGCGCTATGCAGTGAATGTAGCTCTGCAGAAAGTACAGCAGCTAAAGGAAACAGGGCATGTGAGTGGCCCTGATGGCCAAAACCCAGAAAAGAT
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Task1_train_21805
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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.
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Pathogenic; Fanconi anemia complementation group I
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TAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTTGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAATTTCCCAGACCCTGAATTCAAGAACTCCTAATTTTAACATGGAAATTTTGATTGGTGGTAGTATTGGACTTTAATACTCTGCAGGGACTGGTATAAATAAGGGAGGGGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGCTGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATAATGTAAAACTTAGCCAGGTGTTAGTGCCTGGGACCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGGTCACACCAGGGGAAACAAAACCCAGATAGATTGCTGTGACCTGGGAGTATTATATTAATGAAGTTCTATTCATTTATAATGTTACGTCTAAAATATGACATTTAAAGAAGCATTGTGATTATTATCATATGTAAAAGTAAACCACAATATTCTGATGTTTGTCCTTAGCGGTCTCTTTTTTGTTTTTTACAGTAAGAATAGGTTTGAGGACATTCTGAGCTTATTTATGTGTTACAAAAAACTCTCTGACATTCTTAATGAAAAAGCGGGTAAAGCCAAAACTAAAATGGCCAACAAGACAAGTGATAGTCTTTTGTCCATGAAATTTGTGTCCAGTCTTCTCACTGCTCTTTTCAGGTAAGGTTCTGCTAGAGTGCTTAAAGACAGCCACTCCCTGAGGATCGTATACCTACCTAGGCTCACTTGTTTCACCTCGTTTGGATTGTTTACAGTAAGAAATAAGTCAGGAGGTTTTATTTTTCTTGAAATAAAAGCTGGACAATCCTAGGTAGGTACTTTAAGTAGGTACCTTGAATTATTAAAGGACAAATGAGAAACAGTGGGCCAATAAATGAAAAGATAGGGATGAATTCCAGCAGGGTGTTTTAAGAAAATCTATGTAAGTAGCTTGTACAAGATAACAGATATAAAAAGGTAGGGGGTGCCAGGCATGGTGCCTCACTCCTGTAATCCCAGTACTTTGGTAGACTGAGGTGGGTGGATCACCTGAGGTCAAAAGTTCAAGATCAGCCATGACCGATATGGTGCGACCTCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCGGCTACTTGGGAGGCCGAGGCAGGAGACTCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAATTCTGCCTAAATAAATAAAAAGGTAGGGGGGGTGACTGAATTAAAAATACAAAGGGACAAAAAAAAACCTAAAAGACTAAGACTGACATTTAAATTTTATCAAAGTAAAGGATTTGGGGAGGGAGAGAAAATGAGGAACCACTAAGAATAACGATTATAAAAGGGCAGCCATAGCAGTGACTATAGCTTGGGCTGCCTAGAGAGTCTGCCAGTCGGAACTTACTGGCAAGCTCTGTTGGGTGCTGCTGTTCTGAACAATTTCTAGAAAGCTTAATTCCATATACCAATAGCAGTAAGGGAATCTTCCTTTTTCTTTCTCTCTCTCTGTCTCTCTCTAGGGATAGTATCCAAAGCCACCAAGAAAGCCTTTCTGTTCTCAGGTCCAGCAATGAGTTTATGCGCTATGCAGTGAATGTAGCTCTGCAGAAAGTACAGCAGCTAAAGGAAACAGGGCATGTGAGTGGCCCTGATGGCCAAAACCCAGAAAAGATCTTTCAGAACCTCTGTGACATAACTCGGTAAGCCACTCCCACCCCTTAGAAACTTATTCCACTTGGCTGTGGTGTCTCCAAGAGAACAAACTGGGAACAGAGGATGAAGGTAATTTGAGGTTGGACATATTTTAGGAGTGAAAGAATATAAAACATTAGCCAGGTGGCAGGCACTTGTAATCCCAGCTACTCAGGAAGCTGAGGCAAGAGAATCACTTGAACCAGGAGGTGGAGGTCGCAGTGAGCTGAGTTCATACCACTGCACTCTAGCCTGGGTGACAGGGCAAGACTCTCAAAAGAAAAAAAAAAAAAAAAAAGCCAGACATGGCAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTGGATTACCTGAGGTTGGGAGTTCGAGACCAGTCTGACCAACATGGAGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGCACATGCCTGTCATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTCGAACCTGGGAGGCGGAGGTTGCAGTGAGCCTAGATTGTGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCATCTTAAAAGAGTGAAAAAAAGTGCAGTCATTGACATAGGGTCTTTTTTCTAGTCTTGCCTTCCCCTGGCGCCCCCCCCACCTTTTTTTTTTTGTTGTTGTTGTTGTTTTGGCTTTTTTTTTGGCTTTTTTTGAGAGAGTCTCGCTCTATTGCCCAGGGTGGAATGCCGTGGTGCAATCTCGGCTCACTACAACCCCTTCCTCCGAGGTTCAAGCAGTCCTTCCACTGCAGCTTTCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCCAACTACTTTTTAATTTTTAATTTTAGTTTATTTTATTTACTACTTTTTTTGGAGACAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGTGATCTTGGCTTACTGCAACCTCGGCCTCCCCGGTTCAAGTGATCCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGGCACCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCACCCTGGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAGCCACTGCACCTGGCCCTTATTTTTTTTTTTTTAATTTTCTGTAGAGATAGGATTTCACCATATTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATACGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGTGGCTTTTGTTTTTTCGTTTTTTTTGTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGCGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACATAGACATGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAACCGCCATTGTCATCGTGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCCACCTCCCTCCTGGACGGGGTGGCTGCCGGGTGGAGACGCTCCTCACTTCCCA
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TAAAAAATAATATCTGTGCTTTTCTTGTGATGGGAGTTTGTGAGGTTTTAATAGAATACAATTTCTCCATAAGTAGTTTCAGGTAAGGTTTTGCTATAACTCCATTTGTAATTTGATGAATTCTCCATTTTATTTACATATTTTTACTGTAGCAGTATTCTAGGCAGTAAACAGACCACAGACGATGACACTGTCTCTTAAATGAGCACCTAGTCTAAGACTAAACTGTGTTCTTTCCACTAGAGAGCGCTGAAGTATATGCTTACCAGGCCTATAAAATGAAAGCCTTCCAGCAGGGTTTCACTTACTCAGAATTTCCCAGACCCTGAATTCAAGAACTCCTAATTTTAACATGGAAATTTTGATTGGTGGTAGTATTGGACTTTAATACTCTGCAGGGACTGGTATAAATAAGGGAGGGGAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGCTGGGTGTATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATAATGTAAAACTTAGCCAGGTGTTAGTGCCTGGGACCTGTAGTCCTAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGGTCACACCAGGGGAAACAAAACCCAGATAGATTGCTGTGACCTGGGAGTATTATATTAATGAAGTTCTATTCATTTATAATGTTACGTCTAAAATATGACATTTAAAGAAGCATTGTGATTATTATCATATGTAAAAGTAAACCACAATATTCTGATGTTTGTCCTTAGCGGTCTCTTTTTTGTTTTTTACAGTAAGAATAGGTTTGAGGACATTCTGAGCTTATTTATGTGTTACAAAAAACTCTCTGACATTCTTAATGAAAAAGCGGGTAAAGCCAAAACTAAAATGGCCAACAAGACAAGTGATAGTCTTTTGTCCATGAAATTTGTGTCCAGTCTTCTCACTGCTCTTTTCAGGTAAGGTTCTGCTAGAGTGCTTAAAGACAGCCACTCCCTGAGGATCGTATACCTACCTAGGCTCACTTGTTTCACCTCGTTTGGATTGTTTACAGTAAGAAATAAGTCAGGAGGTTTTATTTTTCTTGAAATAAAAGCTGGACAATCCTAGGTAGGTACTTTAAGTAGGTACCTTGAATTATTAAAGGACAAATGAGAAACAGTGGGCCAATAAATGAAAAGATAGGGATGAATTCCAGCAGGGTGTTTTAAGAAAATCTATGTAAGTAGCTTGTACAAGATAACAGATATAAAAAGGTAGGGGGTGCCAGGCATGGTGCCTCACTCCTGTAATCCCAGTACTTTGGTAGACTGAGGTGGGTGGATCACCTGAGGTCAAAAGTTCAAGATCAGCCATGACCGATATGGTGCGACCTCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGCGCACCTGTAGTCCCGGCTACTTGGGAGGCCGAGGCAGGAGACTCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAACAAAATTCTGCCTAAATAAATAAAAAGGTAGGGGGGGTGACTGAATTAAAAATACAAAGGGACAAAAAAAAACCTAAAAGACTAAGACTGACATTTAAATTTTATCAAAGTAAAGGATTTGGGGAGGGAGAGAAAATGAGGAACCACTAAGAATAACGATTATAAAAGGGCAGCCATAGCAGTGACTATAGCTTGGGCTGCCTAGAGAGTCTGCCAGTCGGAACTTACTGGCAAGCTCTGTTGGGTGCTGCTGTTCTGAACAATTTCTAGAAAGCTTAATTCCATATACCAATAGCAGTAAGGGAATCTTCCTTTTTCTTTCTCTCTCTCTGTCTCTCTCTAGGGATAGTATCCAAAGCCACCAAGAAAGCCTTTCTGTTCTCAGGTCCAGCAATGAGTTTATGCGCTATGCAGTGAATGTAGCTCTGCAGAAAGTACAGCAGCTAAAGGAAACAGGGTATGTGAGTGGCCCTGATGGCCAAAACCCAGAAAAGATCTTTCAGAACCTCTGTGACATAACTCGGTAAGCCACTCCCACCCCTTAGAAACTTATTCCACTTGGCTGTGGTGTCTCCAAGAGAACAAACTGGGAACAGAGGATGAAGGTAATTTGAGGTTGGACATATTTTAGGAGTGAAAGAATATAAAACATTAGCCAGGTGGCAGGCACTTGTAATCCCAGCTACTCAGGAAGCTGAGGCAAGAGAATCACTTGAACCAGGAGGTGGAGGTCGCAGTGAGCTGAGTTCATACCACTGCACTCTAGCCTGGGTGACAGGGCAAGACTCTCAAAAGAAAAAAAAAAAAAAAAAAGCCAGACATGGCAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGCCGGGTGGATTACCTGAGGTTGGGAGTTCGAGACCAGTCTGACCAACATGGAGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGCACATGCCTGTCATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTCGAACCTGGGAGGCGGAGGTTGCAGTGAGCCTAGATTGTGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCATCTTAAAAGAGTGAAAAAAAGTGCAGTCATTGACATAGGGTCTTTTTTCTAGTCTTGCCTTCCCCTGGCGCCCCCCCCACCTTTTTTTTTTTGTTGTTGTTGTTGTTTTGGCTTTTTTTTTGGCTTTTTTTGAGAGAGTCTCGCTCTATTGCCCAGGGTGGAATGCCGTGGTGCAATCTCGGCTCACTACAACCCCTTCCTCCGAGGTTCAAGCAGTCCTTCCACTGCAGCTTTCTGAGTAGCTGGGACTACAGGTGCACACCACCATGCCCAACTACTTTTTAATTTTTAATTTTAGTTTATTTTATTTACTACTTTTTTTGGAGACAGGGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCGTGATCTTGGCTTACTGCAACCTCGGCCTCCCCGGTTCAAGTGATCCTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACAGGGCACCACCATGCCCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCACCCTGGCCTCCCAAAGTGCTGGGTTTACAGGCGTGAGCCACTGCACCTGGCCCTTATTTTTTTTTTTTTAATTTTCTGTAGAGATAGGATTTCACCATATTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATACGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGTGGCTTTTGTTTTTTCGTTTTTTTTGTTTTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACGGGGTTGCGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACATAGACATGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTCCCCCCTTTCTATTCCACAAAACCGCCATTGTCATCGTGGCCCGTTCTCAATGAGCTGTTGGGTACACCTCCCAGACGGGGTGGTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCCACCTCCCTCCTGGACGGGGTGGCTGCCGGGTGGAGACGCTCCTCACTTCCCA
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Task1_train_21806
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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?
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Pathogenic; Fanconi anemia complementation group I
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TATGGAAAACTGTTCAGCAATATCTACTAAAATTAAACATATGCCTATGACTCAACAATTCGAATCACAACAGAAAAATGTGGAAGAATTCTCTTAGCAGCACTATTTTAGTAGGTAAAACAAACCTAAGTGTTCATCAGCAGTAGAAAGGATAAAAGAATTATGATATATTCACACAGTGGAATCCTATACAGCAAATAAGCATGAACAAACTACATGTACACACAACTTGGAGAGGATCTCACAAATGTACTGTAAAACAAAAGAAGCCAGACACAAGAAAGGGTACTTACTGTAGAATTCCGTTTAGATGAAGTTCAAAATTAGACAAAATTTATCTGTGATGTTAGAAGTCAGGATAGCAGTTTCCTTGGCGGGGCAAGTTAGGAGGGAGTCCCTAGAATACTCGTAATGTACTTGATCTGGATGCTAGTTACACAGTAATCTTAACTAATGATGGGAAATGTCTGCCTTCTTTGGGCATGTGGATAAAGAGGCATCATTGCAGACTAGCTGCTTGGCTGTAGTATGTGTAACACTGGGATGTTGTGCCTGAGACACGACAAGCTACCTCCTGTTCTGGTTAGGCACTCCACCCCACACACCCTGTACACATACCTGAGGGACCTGACTGGGTTATAACTTAACTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCAGGAATGCAATGGCACGGTCTTGGCTGACCGCAGCCTCCGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTATATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTGAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCACAACTTACCTTTTAATTTGCTTTTCTTCCTATTCCTAGAGGATGCCTTGTTTTGCAAGAGCTTGATGAACTTGCTCTTCAGCCTGCATGTTTCGTATAAGAGTCCTGTCATTCTGCTGCGTGACTTGTCCCAGGATATCCACGGGCATCTGGGAGATATAGACCAGGTACTATAATGAGCCTTCAGTACAATACCCTGTGTGGGGATGGGGGTCAAGGGAACAACCTTACTGTCATTAGGTCTCACCTCTCTTCTTTTCCCCAGGATGTAGAGGTGGAGAAAACAAACCACTTTGCAATAGTGAATTTGAGAACGGCTGCCCCCACTGTCTGTGTAAGTGTTGTACCTGAGCCATGGGGAATAGCTTTGTCATTCTTTCCATTCTACTCCATGTGAAGTGACTTGTGTCCTATAGCGGCTTGTGTCCTGAGGCCTGTAACCCACCTGTAGGTGGCCAGGTGACCACAGTTATTATATTACCCCCACAGCTGTGTGTAGTGAATCACACCAGGCACTCTTTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATAAAGACTTTCTAGTTAGTAGTAATCAATTTCTAAATCTCCTTTACTCTTAATTAGAAAACGAAGTTGGGTTTGAATGTGCCAATTTTATTTCCCTTTAGAAGAGGCCTCTTCTCAGGCAACCCTACCAAATCAGCCTGTTGAGAAAGCTATCATCATGCAACTGGGAACTCTGCTTACATTTTTCCACGAGCTGGTGCAGACAGCTCTGCCATCAGGCAGCTGTGTGGACACCTTGTTAAAGGACTTGTGCAAAATGTACACCACACTTACAGCCCTTGTCAGATATGTGAGTATTTGAGACAAGCAGATTCGCCCCACCATTCTACCCCAGTGAGCCAGGAGATGAGGATGGGGCAGCAGCCCACTGCTGCAGAATGCCCCTAAACAAGAGAGCATTTGCCTCCATCTTGGCAGGTCATGGTTTCATTTTAGTTTGGTCAGTAGGTGGCAGGCATCTCCACAGGCCAGGGAAAAACAGTTTATAATTCTAATCTGCTTTTGGGCCTGTCACGGTGGTTCATGCCTGTAATCCCAGCACTTTGGTAGGCTGAGACGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCGTTGGCAATAGAGTGAGACTCCATCTCAAAAATTAAAAAAATAAAGTAAAAATCTGCTTTTGGAGGCCCTTAATTCTTTGGCATGTATGTGGCACCTGATTGAGAATGAATGCCTCTTTTAAATACCTTCTAAGGTTTAATCTAAACTATAACTATCCTAGAATTAAATCTGGGCCCATAATGCATAGAAATTATACCATTTCTAACCAGTCTGGACACTTAAAGAGATGTTTATTCCTTTTTTCATTCCTTTAACATGTAGGTGTTAAATGCCTTATAGATCAAATACTAAGGTGGGGAAGAAAATTATTTTTTATAAAAATACAAGGCATACCCTGCCCTTACTGTTTATGTTCCTAGCAATGATCCATATTAAATACTTAGAAAGGCACAGATAATCCAAGAAAGATGTGGACCACCCCGCATCACAGCAGTGTGGCTCTCTCAGAATGTGTAGCTCTAGCTACATGTGGCTAAGCTGCTGTAGTGGAAATACTGAGAGCCTCTTCTCTTTATTGGCATCTTTAAAAGGAAAAACAGCAAAGTTGTTGGTTTTTTACATGCAGGGACTACCAGCCTGAGGAATTTTTAAAGAAATGAGCAAATCAGAAACAAACCCTTCATTACTTATTGTCTGGGAAGCTTAGGAGCTTTGGAGGAGAGGAATAAGGAAGCTTGTGTCTTGGCTTCTCTGTGAATTTTGTTTTTCCTCTTCAGTCAGAATGATGAGTCACACTCCATAGGCTCACTGCAGCAGTCACTTGTAGTTTCATAGGACAGTCTACTAAATCTAGGAATCTTTTTTTATTAGTATCTCCAGGTGTGTCAGAGCTCCGGAGGAATTCCAAAAAATATGGAAAAGCTGGTGAGTTGAGAATGCCTTTCCTAGGAATGGGGGAAGCACTTTTACTGCTGGTTACATTGGTTTCCTTCTCCCTTGTTGTGCAGGTGAAGCTGTCTGGTTCTCATCTGACCCCCCTGTGTTATTCTTTCATTTCTTACGTACAGGTAAGAGATTCAGAGGCAGTACCCAATAGGTCTTCAAGAAAGGATTTCTTACATGCCCAGGGGACTATTGATCACCTGAACTGAGCATATATAAACTTTTTTCCCTGCTTACCACAAGCTGGAGGCACCCATCAGAGACCAAGCCAAGGCTTGAGGGCTTTGCAGCAAGGACATCTTTATGTAAAGAAAACTGTTTCACTTAATTTGGAGAAAGGAAGCATATATGTTTGCATTTGGAGCAAGGAAGGAACAAGCATGCTCAGGCTCAAGGACTTGGTTTATTCCTGGGTGACTGAAAGTCCATGCCATGAGGCATCCTCTGGGAATGTGAGCAGAGTAGCAGCAAGCACATGAAGAAGGGTTGTGATGAGACGGCAGTGCAGTGAGGGCACTTTCAGGGAAGTGGAAGGACGTGGCTTTGTAAGTGTCATTTGGTCCTAAATACCATCAGATTCCTGCAGTACTTGAATCTCCTTTACTGTTTGCTTAAACCAGTTTTTTAACCTCACCACTATTGACATGTTGCGCTAGATAATTCTTTGTTGTGGGACCT
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TATGGAAAACTGTTCAGCAATATCTACTAAAATTAAACATATGCCTATGACTCAACAATTCGAATCACAACAGAAAAATGTGGAAGAATTCTCTTAGCAGCACTATTTTAGTAGGTAAAACAAACCTAAGTGTTCATCAGCAGTAGAAAGGATAAAAGAATTATGATATATTCACACAGTGGAATCCTATACAGCAAATAAGCATGAACAAACTACATGTACACACAACTTGGAGAGGATCTCACAAATGTACTGTAAAACAAAAGAAGCCAGACACAAGAAAGGGTACTTACTGTAGAATTCCGTTTAGATGAAGTTCAAAATTAGACAAAATTTATCTGTGATGTTAGAAGTCAGGATAGCAGTTTCCTTGGCGGGGCAAGTTAGGAGGGAGTCCCTAGAATACTCGTAATGTACTTGATCTGGATGCTAGTTACACAGTAATCTTAACTAATGATGGGAAATGTCTGCCTTCTTTGGGCATGTGGATAAAGAGGCATCATTGCAGACTAGCTGCTTGGCTGTAGTATGTGTAACACTGGGATGTTGTGCCTGAGACACGACAAGCTACCTCCTGTTCTGGTTAGGCACTCCACCCCACACACCCTGTACACATACCTGAGGGACCTGACTGGGTTATAACTTAACTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCCCAGGCAGGAATGCAATGGCACGGTCTTGGCTGACCGCAGCCTCCGCCTCCTGGGTTCAAGCAATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTATATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTGAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCACAACTTACCTTTTAATTTGCTTTTCTTCCTATTCCTAGAGGATGCCTTGTTTTGCAAGAGCTTGATGAACTTGCTCTTCAGCCTGCATGTTTCGTATAAGAGTCCTGTCATTCTGCTGCGTGACTTGTCCCAGGATATCCACGGGCATCTGGGAGATATAGACCAGGTACTATAATGAGCCTTCAGTACAATACCCTGTGTGGGGATGGGGGTCAAGGGAACAACCTTACTGTCATTAGGTCTCACCTCTCTTCTTTTCCCCAGGATGTAGAGGTGGAGAAAACAAACCACTTTGCAATAGTGAATTTGAGAACGGCTGCCCCCACTGTCTGTGTAAGTGTTGTACCTGAGCCATGGGGAATAGCTTTGTCATTCTTTCCATTCTACTCCATGTGAAGTGACTTGTGTCCTATAGCGGCTTGTGTCCTGAGGCCTGTAACCCACCTGTAGGTGGCCAGGTGACCACAGTTATTATATTACCCCCACAGCTGTGTGTAGTGAATCACACCAGGCACTCTTTTCTTTCAGTTACTTGTTCTGAGTCAGGCCGAGAAGGTTCTAGAAGAAGTGGACTGGCTAATCACCAAGCTTAAGGGACAAGTGAGCCAAGAAACCTTATCAGGTAAGATAAGTTCAACTGGGATTCCAGGAATTGACATGAGCAAGGTCAAAATTCATATTGGGTCGGTGCATAAAAATGGAGCCCCTGAGCTAAATTTCTTATTTGCCTTTAAGCTAGATTTTTTCCTATGTGATGAAAGAAGTAGAAGATCATATGTCTTATCACAGCACGATTAATTCACTCTGCATATTGAATGTTCGTTTTTCCATAAAGACTTTCTAGTTAGTAGTAATCAATTTCTAAATCTCCTTTACTCTTAATTAGAAAACGAAGTTGGGTTTGAATGTGCCAATTTTATTTCCCTTTAGAAGAGGCCTCTTCTCAGGCAACCCTACCAAATCAGCCTGTTGAGAAAGCTATCATCATGCAACTGGGAACTCTGCTTACATTTTTCCACGAGCTGGTGCAGACAGCTCTGCCATCAGGCAGCTGTGTGGACACCTTGTTAAAGGACTTGTGCAAAATGTACACCACACTTATAGCCCTTGTCAGATATGTGAGTATTTGAGACAAGCAGATTCGCCCCACCATTCTACCCCAGTGAGCCAGGAGATGAGGATGGGGCAGCAGCCCACTGCTGCAGAATGCCCCTAAACAAGAGAGCATTTGCCTCCATCTTGGCAGGTCATGGTTTCATTTTAGTTTGGTCAGTAGGTGGCAGGCATCTCCACAGGCCAGGGAAAAACAGTTTATAATTCTAATCTGCTTTTGGGCCTGTCACGGTGGTTCATGCCTGTAATCCCAGCACTTTGGTAGGCTGAGACGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCGTTGGCAATAGAGTGAGACTCCATCTCAAAAATTAAAAAAATAAAGTAAAAATCTGCTTTTGGAGGCCCTTAATTCTTTGGCATGTATGTGGCACCTGATTGAGAATGAATGCCTCTTTTAAATACCTTCTAAGGTTTAATCTAAACTATAACTATCCTAGAATTAAATCTGGGCCCATAATGCATAGAAATTATACCATTTCTAACCAGTCTGGACACTTAAAGAGATGTTTATTCCTTTTTTCATTCCTTTAACATGTAGGTGTTAAATGCCTTATAGATCAAATACTAAGGTGGGGAAGAAAATTATTTTTTATAAAAATACAAGGCATACCCTGCCCTTACTGTTTATGTTCCTAGCAATGATCCATATTAAATACTTAGAAAGGCACAGATAATCCAAGAAAGATGTGGACCACCCCGCATCACAGCAGTGTGGCTCTCTCAGAATGTGTAGCTCTAGCTACATGTGGCTAAGCTGCTGTAGTGGAAATACTGAGAGCCTCTTCTCTTTATTGGCATCTTTAAAAGGAAAAACAGCAAAGTTGTTGGTTTTTTACATGCAGGGACTACCAGCCTGAGGAATTTTTAAAGAAATGAGCAAATCAGAAACAAACCCTTCATTACTTATTGTCTGGGAAGCTTAGGAGCTTTGGAGGAGAGGAATAAGGAAGCTTGTGTCTTGGCTTCTCTGTGAATTTTGTTTTTCCTCTTCAGTCAGAATGATGAGTCACACTCCATAGGCTCACTGCAGCAGTCACTTGTAGTTTCATAGGACAGTCTACTAAATCTAGGAATCTTTTTTTATTAGTATCTCCAGGTGTGTCAGAGCTCCGGAGGAATTCCAAAAAATATGGAAAAGCTGGTGAGTTGAGAATGCCTTTCCTAGGAATGGGGGAAGCACTTTTACTGCTGGTTACATTGGTTTCCTTCTCCCTTGTTGTGCAGGTGAAGCTGTCTGGTTCTCATCTGACCCCCCTGTGTTATTCTTTCATTTCTTACGTACAGGTAAGAGATTCAGAGGCAGTACCCAATAGGTCTTCAAGAAAGGATTTCTTACATGCCCAGGGGACTATTGATCACCTGAACTGAGCATATATAAACTTTTTTCCCTGCTTACCACAAGCTGGAGGCACCCATCAGAGACCAAGCCAAGGCTTGAGGGCTTTGCAGCAAGGACATCTTTATGTAAAGAAAACTGTTTCACTTAATTTGGAGAAAGGAAGCATATATGTTTGCATTTGGAGCAAGGAAGGAACAAGCATGCTCAGGCTCAAGGACTTGGTTTATTCCTGGGTGACTGAAAGTCCATGCCATGAGGCATCCTCTGGGAATGTGAGCAGAGTAGCAGCAAGCACATGAAGAAGGGTTGTGATGAGACGGCAGTGCAGTGAGGGCACTTTCAGGGAAGTGGAAGGACGTGGCTTTGTAAGTGTCATTTGGTCCTAAATACCATCAGATTCCTGCAGTACTTGAATCTCCTTTACTGTTTGCTTAAACCAGTTTTTTAACCTCACCACTATTGACATGTTGCGCTAGATAATTCTTTGTTGTGGGACCT
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Task1_train_21807
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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?
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Pathogenic; Fanconi anemia complementation group I
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TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACATTGCTGGCAAAGGTGAAAATTAGTACAGCCTCTCCAGAGGCTTAGCAATGACTACTGAATCCCATTCTGATGTAGCAGTTTCACTTTTAGGATATACAGGCCTGTGTACAGGATGGTCCTCACAACATTATTTATAAAAGTGAAATATTAGAAACAAAGATATCCATTAATAGAGGACTGGCTAAATAGGTTATAATATATTTATACTGGAGAGATATGAAAAAAATAAACATCTAAATGTTCAGCTCTCTGGAATTATCTCCAAGATAATGTTAAAAAAAATTTGTACAGTATCCTCATGGGTTAAAAATACACACACACACACACACACACACACGTAGGACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCACACACACACACACACACACACACACACAAATGTAGGACCTACAAATTACAGTTCACGTTAGGGGGAAAGATATATAATCACAGACACACACACACACACACAAATGTAGGACCTACAAATTACAATTCACGTTAGGAGGAAAGACACACACACAAAAACGTAGGACCACACACAAAAATGTAGGACCTTTCGTTAGGGGGAAAGACACACACACACACACGTAGAACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCCCAGCAGTGAAAATTCATACCCAGACCAGAACAAGGAAATAGAGCTAGGGCCAAAATAGGCTTAAGAATTTCAAGTCAGAAAAGCAACTAAATTTCTACAAGTGATCCTGCCCTCCTCAGCCATTTTCTAGATAACAACAAATACTGGAATTATAAATGAAATGGATCAGTGCAATTATCTCTACTGGCATTTGGGTCCTTCCAGATTGAACTGCCAAAAATTTTAGATTACTGGTATACAACTGCATTTGATTGGGAGACAGACTAGTTTTCCCCTAAAGCCATACAGTTTTGTAAGTGACAGCTTCAGAGGAAAACTTCAAAAACCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCCCATTTACCTTCTTGACAGATCTGGCAAACTGAAGCAGCACAACTACAATGGAGGAAAAGAGACTCTGGGCCATTTGTGTGTTTGCCATCCCCCCTCTCCCCCCCCCCCCCTTTTTTTTTTTGAGACTGTGTCTCATTCTGTCACCCAGGCTGGAGTGCACATTCAAGTGATCCTCTGGCCTCAGCCTCCAGAGTAGCTGGGACTACAGTCATATGCCATCATACCCCACTAGTTTTTTGGGTTTGTTTTTGTAGAGATGGGGTCTCACTATGCTGCCCAGGCTGGTCTCAAACTCCTGGCCTGAAGTGATCCTTCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACTCAGCCTCTTTGCTGTTCTTGATCTGATGACCTGAACCCCAGCATACAGAAGGAAGTGGGTGCGTGCTTGCTTTAGGTAGAAATGGAAAGGTTTCTCAGAGGTGAACTAAAAATGGCTTAAGCTGTTCTGGCAGGACCTATGAGTAGGGAGATGTCCCATGCTTACAATCTTGTCATAGGTGAACCTGATGCAGCACATGAAGCTCAGCACCTCACGAGACTTCAAGATCAAAGGAAACATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGT
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TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACATTGCTGGCAAAGGTGAAAATTAGTACAGCCTCTCCAGAGGCTTAGCAATGACTACTGAATCCCATTCTGATGTAGCAGTTTCACTTTTAGGATATACAGGCCTGTGTACAGGATGGTCCTCACAACATTATTTATAAAAGTGAAATATTAGAAACAAAGATATCCATTAATAGAGGACTGGCTAAATAGGTTATAATATATTTATACTGGAGAGATATGAAAAAAATAAACATCTAAATGTTCAGCTCTCTGGAATTATCTCCAAGATAATGTTAAAAAAAATTTGTACAGTATCCTCATGGGTTAAAAATACACACACACACACACACACACACACGTAGGACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCACACACACACACACACACACACACACACAAATGTAGGACCTACAAATTACAGTTCACGTTAGGGGGAAAGATATATAATCACAGACACACACACACACACACAAATGTAGGACCTACAAATTACAATTCACGTTAGGAGGAAAGACACACACACAAAAACGTAGGACCACACACAAAAATGTAGGACCTTTCGTTAGGGGGAAAGACACACACACACACACGTAGAACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCCCAGCAGTGAAAATTCATACCCAGACCAGAACAAGGAAATAGAGCTAGGGCCAAAATAGGCTTAAGAATTTCAAGTCAGAAAAGCAACTAAATTTCTACAAGTGATCCTGCCCTCCTCAGCCATTTTCTAGATAACAACAAATACTGGAATTATAAATGAAATGGATCAGTGCAATTATCTCTACTGGCATTTGGGTCCTTCCAGATTGAACTGCCAAAAATTTTAGATTACTGGTATACAACTGCATTTGATTGGGAGACAGACTAGTTTTCCCCTAAAGCCATACAGTTTTGTAAGTGACAGCTTCAGAGGAAAACTTCAAAAACCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCCCATTTACCTTCTTGACAGATCTGGCAAACTGAAGCAGCACAACTACAATGGAGGAAAAGAGACTCTGGGCCATTTGTGTGTTTGCCATCCCCCCTCTCCCCCCCCCCCCCTTTTTTTTTTTGAGACTGTGTCTCATTCTGTCACCCAGGCTGGAGTGCACATTCAAGTGATCCTCTGGCCTCAGCCTCCAGAGTAGCTGGGACTACAGTCATATGCCATCATACCCCACTAGTTTTTTGGGTTTGTTTTTGTAGAGATGGGGTCTCACTATGCTGCCCAGGCTGGTCTCAAACTCCTGGCCTGAAGTGATCCTTCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACTCAGCCTCTTTGCTGTTCTTGATCTGATGACCTGAACCCCAGCATACAGAAGGAAGTGGGTGCGTGCTTGCTTTAGGTAGAAATGGAAAGGTTTCTCAGAGGTGAACTAAAAATGGCTTAAGCTGTTCTGGCAGGACCTATGAGTAGGGAGATGTCCCATGCTTACAATCTTGTCATAGGTGAACCTGATGCAGCACATGAAGCTCAGCACCTCACAAGACTTCAAGATCAAAGGAAACATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGT
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Task1_train_21808
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Here’s a variant in FANCI (FA complementation group I) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Fanconi anemia
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TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACATTGCTGGCAAAGGTGAAAATTAGTACAGCCTCTCCAGAGGCTTAGCAATGACTACTGAATCCCATTCTGATGTAGCAGTTTCACTTTTAGGATATACAGGCCTGTGTACAGGATGGTCCTCACAACATTATTTATAAAAGTGAAATATTAGAAACAAAGATATCCATTAATAGAGGACTGGCTAAATAGGTTATAATATATTTATACTGGAGAGATATGAAAAAAATAAACATCTAAATGTTCAGCTCTCTGGAATTATCTCCAAGATAATGTTAAAAAAAATTTGTACAGTATCCTCATGGGTTAAAAATACACACACACACACACACACACACACGTAGGACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCACACACACACACACACACACACACACACAAATGTAGGACCTACAAATTACAGTTCACGTTAGGGGGAAAGATATATAATCACAGACACACACACACACACACAAATGTAGGACCTACAAATTACAATTCACGTTAGGAGGAAAGACACACACACAAAAACGTAGGACCACACACAAAAATGTAGGACCTTTCGTTAGGGGGAAAGACACACACACACACACGTAGAACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCCCAGCAGTGAAAATTCATACCCAGACCAGAACAAGGAAATAGAGCTAGGGCCAAAATAGGCTTAAGAATTTCAAGTCAGAAAAGCAACTAAATTTCTACAAGTGATCCTGCCCTCCTCAGCCATTTTCTAGATAACAACAAATACTGGAATTATAAATGAAATGGATCAGTGCAATTATCTCTACTGGCATTTGGGTCCTTCCAGATTGAACTGCCAAAAATTTTAGATTACTGGTATACAACTGCATTTGATTGGGAGACAGACTAGTTTTCCCCTAAAGCCATACAGTTTTGTAAGTGACAGCTTCAGAGGAAAACTTCAAAAACCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCCCATTTACCTTCTTGACAGATCTGGCAAACTGAAGCAGCACAACTACAATGGAGGAAAAGAGACTCTGGGCCATTTGTGTGTTTGCCATCCCCCCTCTCCCCCCCCCCCCCTTTTTTTTTTTGAGACTGTGTCTCATTCTGTCACCCAGGCTGGAGTGCACATTCAAGTGATCCTCTGGCCTCAGCCTCCAGAGTAGCTGGGACTACAGTCATATGCCATCATACCCCACTAGTTTTTTGGGTTTGTTTTTGTAGAGATGGGGTCTCACTATGCTGCCCAGGCTGGTCTCAAACTCCTGGCCTGAAGTGATCCTTCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACTCAGCCTCTTTGCTGTTCTTGATCTGATGACCTGAACCCCAGCATACAGAAGGAAGTGGGTGCGTGCTTGCTTTAGGTAGAAATGGAAAGGTTTCTCAGAGGTGAACTAAAAATGGCTTAAGCTGTTCTGGCAGGACCTATGAGTAGGGAGATGTCCCATGCTTACAATCTTGTCATAGGTGAACCTGATGCAGCACATGAAGCTCAGCACCTCACGAGACTTCAAGATCAAAGGAAACATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGT
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TACATTGTGAGTGAATTGTATGGTATATGAATTACAGCTCTATCAAGCTGTTAGAAAAAATTGTGTGTATTATATACATGGCTGCTTCTCAACTCAGGGATTTTATGATCAGATGGAGCATCTTATTTTTCCTCTGAACCAAAAACATGTTTTATTCACGAAGCACCAGAAAATCTTGAGTTGAAATGGAAATAGTAAAATAACTTACGATACTCAATTGGGAGAAATTATTTTTAGGTAAAGTTGGTGAATGCAAAAGGTGCTCCCTAAAAGATGTGTAAGAGTCAGCGGGGGTACAGGAAAGGAGGCACTTAGTACATTGCTGGCAAAGGTGAAAATTAGTACAGCCTCTCCAGAGGCTTAGCAATGACTACTGAATCCCATTCTGATGTAGCAGTTTCACTTTTAGGATATACAGGCCTGTGTACAGGATGGTCCTCACAACATTATTTATAAAAGTGAAATATTAGAAACAAAGATATCCATTAATAGAGGACTGGCTAAATAGGTTATAATATATTTATACTGGAGAGATATGAAAAAAATAAACATCTAAATGTTCAGCTCTCTGGAATTATCTCCAAGATAATGTTAAAAAAAATTTGTACAGTATCCTCATGGGTTAAAAATACACACACACACACACACACACACACGTAGGACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCACACACACACACACACACACACACACACAAATGTAGGACCTACAAATTACAGTTCACGTTAGGGGGAAAGATATATAATCACAGACACACACACACACACACAAATGTAGGACCTACAAATTACAATTCACGTTAGGAGGAAAGACACACACACAAAAACGTAGGACCACACACAAAAATGTAGGACCTTTCGTTAGGGGGAAAGACACACACACACACACGTAGAACCTACAAATTACAATTCACGTTAGGGGGAAAGATATATAATCCCAGCAGTGAAAATTCATACCCAGACCAGAACAAGGAAATAGAGCTAGGGCCAAAATAGGCTTAAGAATTTCAAGTCAGAAAAGCAACTAAATTTCTACAAGTGATCCTGCCCTCCTCAGCCATTTTCTAGATAACAACAAATACTGGAATTATAAATGAAATGGATCAGTGCAATTATCTCTACTGGCATTTGGGTCCTTCCAGATTGAACTGCCAAAAATTTTAGATTACTGGTATACAACTGCATTTGATTGGGAGACAGACTAGTTTTCCCCTAAAGCCATACAGTTTTGTAAGTGACAGCTTCAGAGGAAAACTTCAAAAACCATTGAACCTGAAATTTAAGTCTTATGTTCTTTGCCCTTAGGCCAGAGTTCTTCGGGAAACCAAGCCAATCCCTAACCTCATCTTTGCCATAGAACAGTATGAAAAATTTCTCATCCACCTTTCTAAGAAGTCCAAGGTAAACATTCTCTTATTATGTGCTACCATTCCCATTTACCTTCTTGACAGATCTGGCAAACTGAAGCAGCACAACTACAATGGAGGAAAAGAGACTCTGGGCCATTTGTGTGTTTGCCATCCCCCCTCTCCCCCCCCCCCCCTTTTTTTTTTTGAGACTGTGTCTCATTCTGTCACCCAGGCTGGAGTGCACATTCAAGTGATCCTCTGGCCTCAGCCTCCAGAGTAGCTGGGACTACAGTCATATGCCATCATACCCCACTAGTTTTTTGGGTTTGTTTTTGTAGAGATGGGGTCTCACTATGCTGCCCAGGCTGGTCTCAAACTCCTGGCCTGAAGTGATCCTTCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACTCAGCCTCTTTGCTGTTCTTGATCTGATGACCTGAACCCCAGCATACAGAAGGAAGTGGGTGCGTGCTTGCTTTAGGTAGAAATGGAAAGGTTTCTCAGAGGTGAACTAAAAATGGCTTAAGCTGTTCTGGCAGGACCTATGAGTAGGGAGATGTCCCATGCTTACAATCTTGTCATAGGTGAACCTGATGCAGCACATGAAGCTCAGCACCTCACAAGACTTCAAGATCAAAGGAAACATCCTAGACATGGTTCTTCGAGAGGATGGTGAAGATGAAAATGAAGAGGTCAGTGCTGGCTTCTGTCTGGAGCCCAGCCACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGT
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Task1_train_21809
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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.
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Pathogenic; Mitochondrial disease
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ACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATCGACTGCACTGAAAAAGGCGACTGACTGGGGCAAGTCATTCAGACCCAGCTTGTAGGCAAACATGCACCTGAAAGAGACCCAATCTACTCTCACAGTCATGCCCCTCCTGTGAACAGATGCATCACTCCTGGAGCAATGACCCCACACCCCTTAGAGCAGGGCTTCCCCTGGACCAACACCCCATCTGTTCACTTAGCTAAGTCAAGAAAGGTGAAGGTCCAGCACTGTTTTCCATCCAGCAGCCTAACCTCCCACTGAGATACTGAAATGCAATTATGGACTCAACATACTTTTTTTTTTTTTCCCAGTTTGGTACACTTTATTAATTAATATACGAAATCACTTCCAATTGGGCCAGAGTTTGAAGCATAAATGAGGACTTTTAGCTTTGTTAAGCATAACCTCCCGGAGATGATGATTAAGAGGGCAATGGGAACAATGTTGAATATTGTAAACATCTGTTATTTACCCAATAATCAGGATAGATCATGGTTCCCAAACTGGTTCTGAGTGGCAGATCAACATGGAACGGTAATATTTAATTCATCCATATGAACTAGGAATTTTACTACAAGAAAATACAACTCAATATATAAAATATATAAGATATTTTTAAAAATCACATTTGAGTGTCCCCATTAACAGTGTTTTCTGTTAGCAGTCAAATAACAAACTTTTGGCACTTACTTAAGAAAGAAAACATTTATGGGAGAAAGAAAAACAAACATCTCAATTTTCTATGAAATGAGAAAAGGCTTCTGTCATTTGATTTTCCAAATAGAAAAGCGTGAGTACCACCCTTCGGAACAATTCCCCTAACCTCACTGCTTCCCTCAATGATCAGTCTTGGTATTTCACATTTTCAAACCCAATAACTCTTTTTTTACGAATTGAGGCTAGTCTTTTTAGGACTTCTACAACTTTTTAAAAATTAGAAATAAATAAATAAGCTGAAACATTCACTTCTAGGGGGATGAAAAGTCAAAACTGACCAGTCTGGCCCAAGGAACGCTCACCCAAAGCCCCACATAGGAGCACATGGCCAGGCTAGAGGCCATGGGCCCCGCATACCTGGTCAAGAGGTTGGTGATCTGCAAGGCCAGGGCAGCGCGGTAGCGGTCCTCCTCCCGCACCAGGTAGCGAACCTCGTCATGGATGCTGATGCAGAAGCGCCCATCTATGGCAAACTCTTCAAACAGCCACTTCATGGCCACAAGCATGAGGTGTAAGTAGTCAACAGCAGAGCTCTGTACCACCCAATTCACACGGCTGGTCATAAACTGGGAAGGGAAGGTGGGCAGAGGTGAAAGGGGCTATGCTACATACCAATTAACTCCAGGGTAGAAGCCCCAAGAGAAGCTTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGT
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ACTCTTCCTAGCTGGTTAGCAGCCTATCTGGGAGCAGTCACAGATTAGTGGAAGGGCAACAGAATGGGAAAGGGCTAAAAGGTGATCAGGCAAAGATGAGAGCAAAGGACTCTCAGAAGGGTTGTAAACTTTGGACCACACAAAATCCTATGAAGTTGCCCCGACTTGTTTGATAAACACTTCCAGGAAGCAGGTGGTAACAAAACAATGTCCTGCTGTGGGTCCTCTTCCTGTTAATCTTTTAAACTACTGGATGATGACCAGCTATAGCAGTCTGGCTCAGAAACTAGTTTACCTCTCATGTCATGCCCTCATTCAAAGGCCACTCATTAGTTTGGGTTAAGGCTTCTTCCTTCAATTCATGCCAATGTCTTGTCCTTTTCCCTTGTGGTTTGTTCCTCTCCCTTTACTCTTAGCAAGTGACAGTACCGCATCCCCATCCCTGCACCACCTTTGAAACAGAACCCAATGTTTCCTTACTTCTAGCACCTAAAATTTTCATCTTAGGTTTGTCTAATAAGTAGCAAATCAGTAGCCCACTCCCATTTCAAAACTGGAAGTTTACATACAAGTGCCCTGGATTTCAGAATTTTGAACATGCATTCTTCAGATGATCACACTCCAGGCTCTAATGTACCTGGCCCCATCCACTCTCTTTACCCACTTGGCAGCTGCACTCAGGAGAGTCATGTAGCATTTTGATGTCAATGGCTTCTTCTCTTGTCATTTTGTCCCATAAGTATCCTCAGTATAGCAAAAGTCCTAAAAGGAGGTGCCACTGTCTTATTACTCTACACTTTGGAGGACTCCTTCCTCTTCTTCAACAACATAATTACCTCCTGTGAGTGGGAAAGTGGGGAAAGCATGACTAACAAAGGCTTTGATGAGAAGATAGAGTCTTTTTTTTCCTTCTTTTTATTTCCACTGCCTTGGAGCAGGTTTATCACGTTAGAGCATTAATTCTTTCCCCTTCTAGGGCACTGCATCAGAGCATGGGGGACAGAACAAAGAACCAGCCAAGAAGAAAAGGAAAAAATAAATGAAATGCCTGAGTTAATGTGAACTTTGGGGCTTCTGCTTCATTTTTACCCAACAAGCAACAATGCCCCTTGTCCTGTAGTCCACACCGATGTTGGCATCTTGGTTCTGAACCCACTGAATTCAACTGCACCTTCAGTTAGAAGGAATCTTCTTGGCAGGTCCTGCTACTGAAAAATGGCTGGCCTTAGGCAAGCCCTTTTGCAAAAAGCACAGCTGAAAGCCTGAGTTTGGGAGCCTGCACCACCCCGATGAAGCTCCACGGGAGCAAATACAGAGCCTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCAAGGAGCCTTTGGTGAGTTCAATTATCTGGTAAATATCCAGCGCTTCACCTGAAAGATAGTGCAAATTGGTTAGGATGCCACCTCAAGAACTGTAACTGAGAGCTCAGAAGTGAGCAAAGGAGCTTAATGCTAAGGTCAAAAGGAGAGTGAAAGGTTGAGAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATTGACTGCACTGAAAAAGGCGACTGACTGGGGCAAGTCATTCAGACCCAGCTTGTAGGCAAACATGCACCTGAAAGAGACCCAATCTACTCTCACAGTCATGCCCCTCCTGTGAACAGATGCATCACTCCTGGAGCAATGACCCCACACCCCTTAGAGCAGGGCTTCCCCTGGACCAACACCCCATCTGTTCACTTAGCTAAGTCAAGAAAGGTGAAGGTCCAGCACTGTTTTCCATCCAGCAGCCTAACCTCCCACTGAGATACTGAAATGCAATTATGGACTCAACATACTTTTTTTTTTTTTCCCAGTTTGGTACACTTTATTAATTAATATACGAAATCACTTCCAATTGGGCCAGAGTTTGAAGCATAAATGAGGACTTTTAGCTTTGTTAAGCATAACCTCCCGGAGATGATGATTAAGAGGGCAATGGGAACAATGTTGAATATTGTAAACATCTGTTATTTACCCAATAATCAGGATAGATCATGGTTCCCAAACTGGTTCTGAGTGGCAGATCAACATGGAACGGTAATATTTAATTCATCCATATGAACTAGGAATTTTACTACAAGAAAATACAACTCAATATATAAAATATATAAGATATTTTTAAAAATCACATTTGAGTGTCCCCATTAACAGTGTTTTCTGTTAGCAGTCAAATAACAAACTTTTGGCACTTACTTAAGAAAGAAAACATTTATGGGAGAAAGAAAAACAAACATCTCAATTTTCTATGAAATGAGAAAAGGCTTCTGTCATTTGATTTTCCAAATAGAAAAGCGTGAGTACCACCCTTCGGAACAATTCCCCTAACCTCACTGCTTCCCTCAATGATCAGTCTTGGTATTTCACATTTTCAAACCCAATAACTCTTTTTTTACGAATTGAGGCTAGTCTTTTTAGGACTTCTACAACTTTTTAAAAATTAGAAATAAATAAATAAGCTGAAACATTCACTTCTAGGGGGATGAAAAGTCAAAACTGACCAGTCTGGCCCAAGGAACGCTCACCCAAAGCCCCACATAGGAGCACATGGCCAGGCTAGAGGCCATGGGCCCCGCATACCTGGTCAAGAGGTTGGTGATCTGCAAGGCCAGGGCAGCGCGGTAGCGGTCCTCCTCCCGCACCAGGTAGCGAACCTCGTCATGGATGCTGATGCAGAAGCGCCCATCTATGGCAAACTCTTCAAACAGCCACTTCATGGCCACAAGCATGAGGTGTAAGTAGTCAACAGCAGAGCTCTGTACCACCCAATTCACACGGCTGGTCATAAACTGGGAAGGGAAGGTGGGCAGAGGTGAAAGGGGCTATGCTACATACCAATTAACTCCAGGGTAGAAGCCCCAAGAGAAGCTTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGT
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Task1_train_21810
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Consider this mutation in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is this a benign change or a disease-causing variant?
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Pathogenic; Progressive sclerosing poliodystrophy
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GAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATCGACTGCACTGAAAAAGGCGACTGACTGGGGCAAGTCATTCAGACCCAGCTTGTAGGCAAACATGCACCTGAAAGAGACCCAATCTACTCTCACAGTCATGCCCCTCCTGTGAACAGATGCATCACTCCTGGAGCAATGACCCCACACCCCTTAGAGCAGGGCTTCCCCTGGACCAACACCCCATCTGTTCACTTAGCTAAGTCAAGAAAGGTGAAGGTCCAGCACTGTTTTCCATCCAGCAGCCTAACCTCCCACTGAGATACTGAAATGCAATTATGGACTCAACATACTTTTTTTTTTTTTCCCAGTTTGGTACACTTTATTAATTAATATACGAAATCACTTCCAATTGGGCCAGAGTTTGAAGCATAAATGAGGACTTTTAGCTTTGTTAAGCATAACCTCCCGGAGATGATGATTAAGAGGGCAATGGGAACAATGTTGAATATTGTAAACATCTGTTATTTACCCAATAATCAGGATAGATCATGGTTCCCAAACTGGTTCTGAGTGGCAGATCAACATGGAACGGTAATATTTAATTCATCCATATGAACTAGGAATTTTACTACAAGAAAATACAACTCAATATATAAAATATATAAGATATTTTTAAAAATCACATTTGAGTGTCCCCATTAACAGTGTTTTCTGTTAGCAGTCAAATAACAAACTTTTGGCACTTACTTAAGAAAGAAAACATTTATGGGAGAAAGAAAAACAAACATCTCAATTTTCTATGAAATGAGAAAAGGCTTCTGTCATTTGATTTTCCAAATAGAAAAGCGTGAGTACCACCCTTCGGAACAATTCCCCTAACCTCACTGCTTCCCTCAATGATCAGTCTTGGTATTTCACATTTTCAAACCCAATAACTCTTTTTTTACGAATTGAGGCTAGTCTTTTTAGGACTTCTACAACTTTTTAAAAATTAGAAATAAATAAATAAGCTGAAACATTCACTTCTAGGGGGATGAAAAGTCAAAACTGACCAGTCTGGCCCAAGGAACGCTCACCCAAAGCCCCACATAGGAGCACATGGCCAGGCTAGAGGCCATGGGCCCCGCATACCTGGTCAAGAGGTTGGTGATCTGCAAGGCCAGGGCAGCGCGGTAGCGGTCCTCCTCCCGCACCAGGTAGCGAACCTCGTCATGGATGCTGATGCAGAAGCGCCCATCTATGGCAAACTCTTCAAACAGCCACTTCATGGCCACAAGCATGAGGTGTAAGTAGTCAACAGCAGAGCTCTGTACCACCCAATTCACACGGCTGGTCATAAACTGGGAAGGGAAGGTGGGCAGAGGTGAAAGGGGCTATGCTACATACCAATTAACTCCAGGGTAGAAGCCCCAAGAGAAGCTTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGA
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GAACAATTGCCACGAACGGTAATGTTACATGTTAGGAGGGTCTGTTTTCTTTTTATATAAGTGTGTCTTAGATATATTTTAAATAGAAAATAAGCTTTCTGATTTACTTGTTTGGTATTTAAAGCACAGTTTGTTTTTCTGTCACCTATAGAGTGCAAGAATGCACTCTATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAGTAGGGGACAGGTACAGGTAGAATATTTGAAGCTCTGCTGCCTTCATTTCTGAAACATCATATCACATTCACTCTGGACACAGGGCACCTTATAAACTGAAATTAGCCTAGAATATAGCCTGAGTCAAGAGTGGATTCTCTGGGGCCCCAAGTTTCCTGTTCTCCAAGACCCACTTTCTAGTCCACCTCAGATCCTATGTGTAATGAGGAACAAATGTGTTGTGCTCACCCTGGGGAATCCCGTATCTCCTTTCCATCCCAGTTGGGTTGGAAGGGGTTTTACAATCCATGGTCACTTCCTTCCTGAGGCACCGGTCAATATCGACTGCACTGAAAAAGGCGACTGACTGGGGCAAGTCATTCAGACCCAGCTTGTAGGCAAACATGCACCTGAAAGAGACCCAATCTACTCTCACAGTCATGCCCCTCCTGTGAACAGATGCATCACTCCTGGAGCAATGACCCCACACCCCTTAGAGCAGGGCTTCCCCTGGACCAACACCCCATCTGTTCACTTAGCTAAGTCAAGAAAGGTGAAGGTCCAGCACTGTTTTCCATCCAGCAGCCTAACCTCCCACTGAGATACTGAAATGCAATTATGGACTCAACATACTTTTTTTTTTTTTCCCAGTTTGGTACACTTTATTAATTAATATACGAAATCACTTCCAATTGGGCCAGAGTTTGAAGCATAAATGAGGACTTTTAGCTTTGTTAAGCATAACCTCCCGGAGATGATGATTAAGAGGGCAATGGGAACAATGTTGAATATTGTAAACATCTGTTATTTACCCAATAATCAGGATAGATCATGGTTCCCAAACTGGTTCTGAGTGGCAGATCAACATGGAACGGTAATATTTAATTCATCCATATGAACTAGGAATTTTACTACAAGAAAATACAACTCAATATATAAAATATATAAGATATTTTTAAAAATCACATTTGAGTGTCCCCATTAACAGTGTTTTCTGTTAGCAGTCAAATAACAAACTTTTGGCACTTACTTAAGAAAGAAAACATTTATGGGAGAAAGAAAAACAAACATCTCAATTTTCTATGAAATGAGAAAAGGCTTCTGTCATTTGATTTTCCAAATAGAAAAGCGTGAGTACCACCCTTCGGAACAATTCCCCTAACCTCACTGCTTCCCTCAATGATCAGTCTTGGTATTTCACATTTTCAAACCCAATAACTCTTTTTTTACGAATTGAGGCTAGTCTTTTTAGGACTTCTACAACTTTTTAAAAATTAGAAATAAATAAATAAGCTGAAACATTCACTTCTAGGGGGATGAAAAGTCAAAACTGACCAGTCTGGCCCAAGGAACGCTCACCCAAAGCCCCACATAGGAGCACATGGCCAGGCTAGAGGCCATGGGCCCCGCATACCTGGTCAAGAGGTTGGTGATCTGCAAGGCCAGGGCAGCGCGGTAGCGGTCCTCCTCCCGCACCAGGTAGCGAACCTCGTCATGGATGCTGATGCAGAAGCGCCCATCTATGGCAAACTCTTCAAACAGCCACTTCATGGCCACAAGCATGAGGTGTAAGTAGTCAACAGCAGAGCTCTGTACCACCCAATTCACACGGCTGGTCATAAACTGGGAAGGGAAGGTGGGCAGAGGTGAAAGGGGCTATGCTACATACCAATTAACTCCAGGGTAGAAGCCCCAAGAGAAGCTTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCAGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGA
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Task1_train_21811
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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.
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Pathogenic; Progressive sclerosing poliodystrophy
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TTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGG
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TTCACTCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGAACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGG
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Task1_train_21812
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome
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TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTG
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TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCACAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTG
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Task1_train_21813
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTG
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TCTGGCCCTACCTACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCACAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTG
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Task1_train_21814
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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.
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Pathogenic; Progressive sclerosing poliodystrophy
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ACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCA
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ACAAACATTGGTAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTTGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCA
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Task1_train_21815
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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.
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Pathogenic; not provided
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TAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGT
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TAAGGTCCACAGGGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTCTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGT
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Task1_train_21816
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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.
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Pathogenic; Progressive sclerosing poliodystrophy
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GGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACG
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GGAGCTCTGCCCTGCCCTCCCTGGGGCCCCTCTGCCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCATGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACG
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Task1_train_21817
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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Task1_train_21818
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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Task1_train_21819
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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?
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Pathogenic; Mitochondrial DNA depletion syndrome 4b
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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Task1_train_21820
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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?
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Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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Task1_train_21821
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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Task1_train_21822
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This gene mutation involves POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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Task1_train_21823
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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.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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Task1_train_21824
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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.
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Pathogenic; Mitochondrial disease
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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CCCATGCTCCAAAGGTAGCAAGATACCTCTTCCTGGACAGCCGAGGGCTCCAGGGCTCGGCTGATGCAGCAGCCCAGCACCGGGGTACGTGGTATGTCAGACGTAGCAATGCTCTCAAGCTTATTGAACATTTCTGACTCTGTGCCCCCCTTCCATGCCCGTTCAGCAACCACCTCCCACTTCTTCCACTGTGACCTAAGGGACCAGAAACAGAGGGCAGACTTTGTCTTTCAGCATCTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTATAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAG
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Task1_train_21825
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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.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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CTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGA
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CTCAAAGCTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACAGCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGA
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Task1_train_21826
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This variant affects gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
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Pathogenic; Progressive sclerosing poliodystrophy
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CTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAA
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CTAAAAAACAAAGCATCCAAGCTCTTCTGGGGCAAGCCCAGACCCCTCCCTCCATCCTTAACACAAAGAAGGTTCTTACTTCCTTGCAGTTTCTCTCTGGACCTTGCGCAGATCCTGCAGGGAAATCCAGCCACCCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCACTCGCCCTCATCCGACAGCCGATACCTGGGGGCAGTGTTATCACCATCATTCCACGGGAGTGCTTCCTGTGCCACGCTAGTGCCTTGGCAAGGAATGTTCACATATCACTTCAACTTTTAAAAACACTGACATCATGCCAGTCCCCTAAAGGCTTTTATTCAGAGGAAGAAACGGCTCAGAGAGGCTAAGTGCCTTGCCTAGGATCATGGAGCTAGAAAGAGATGCAGCCCAGGCTTTTGTAGCCCCAAAGCCTGGGCCACCCCATGGTAGCCCAATAAAGGACAAAGACTCCAGCACAGGAGGCACCACTATTCCTACTGTCCTGTTTCTTTAGACACTGAATTGCCCAATGACCAACACGGGCCTTTTATTCAGGAGGCAGCAAGGGCCATCACTCTAGATTTGGGGGGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACTCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAA
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Task1_train_21827
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGA
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GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGCGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGA
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Task1_train_21828
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome
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GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGA
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GGATAGGGGTAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGCGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGA
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Task1_train_21829
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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.
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Pathogenic; Progressive sclerosing poliodystrophy
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21830
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This variant impacts the gene POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21831
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21832
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome 4b
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21833
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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?
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Pathogenic; Mitochondrial disease
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21834
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21835
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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.
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Pathogenic; Progressive sclerosing poliodystrophy
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21836
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21837
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21838
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome 1
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21839
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome 4b
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21840
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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?
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Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21841
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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?
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Pathogenic; POLG-related disorder
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21842
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21843
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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?
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Pathogenic; Mitochondrial DNA depletion syndrome
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21844
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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?
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Pathogenic; POLG-Related Spectrum Disorders
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21845
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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.
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Pathogenic; Hereditary spastic paraplegia
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21846
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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.
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Pathogenic; Progressive sclerosing poliodystrophy
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21847
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21848
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21849
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome 4b
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21850
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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.
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Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21851
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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?
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Pathogenic; Inborn genetic diseases
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCCGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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TAAGAATAGGCTACTCCCTGAAGGGGAGGGGGCATTTGTTGAAGCAGAAAACACAACAGCCAGGCCTGGCTTACCCCTCTCAACTGCCACAACCCTAGACAACTCCCAGCTTCCATCTAACCTGCAGACCTCACAAGGCTTGTCGCCTGAAGGCTCCAGAGACACGTCACTCGCATAAATGGCTTCCCCACCACCTGCACCCACAGTCCAAACTCCTGTGACACTTTCAAAGGTGTCCACAACTAAAGCCCCACCACCTTTCTCGCCTCCACCAGCACACGCTGCTCACGGTATGAGCCTTACCCGACCTCACTTTATCCACTGGACGATACTCAGCTCCCCTTCCCTGCATTTATAGTCATCAACCACTATATCATTTATCACATACTTAACTTTTAGTTGTTGACGAGAAAGTGAAGTTTCCACAATGAGCCAGCTAATTAAATGTGGACAGTGTACTGTACCTCAGGAAGTTGTACCTCTCTTCCCTCAATGTTTTTGGAACCCTGCAGAGAGTCTGCTAAGGCCCTGAGCACACAGTATGCAGTACGATCAGAGGAAACAAATTGGAGAGCTAGGCTAAGTAACCTGGAGGCCTGGTAATGCTTTCTCCAGTATCAACATCAGCCTACATGCTCCAGTTTGCCACAGCGCCCTCCTGTCAACTCCTGTCTTCCACCCACTCCATTTGCTCTCATTCCCTGTAGGCATCTGAGTTTGCAACCCCTGTATTATTGATTATGCAGCATAATCAGAATTGTCAAGATGCTACCACTTGGTAACAGTATACCAAAAGTATAGCTTTACTCCCATGAGGAAAAACTGTTTAAGGCTGACTATAAAGCAACCAAATGTCACAATAGGACAAATCATCCTGGAACCAGGTTACACAGGTGTGGAAGGAGAGGGGCTAGGTGAGAGTTCAAGTAATGGGCAGGAGATAGAACAGATGGTAGTACTAAAGGACAGTAAAGCAGGCCTCGGGTCCTGGGTGTTAAAGTGGATGGGAGAGGGACCCTCACCAGCGGAGGCCCTTGGTGGCAGCGTACATCTGCTGGGCCTTCTCAGCTGCCTCCTGCTGTGTGAGCCGGTGGTTAAACTGCATTAGTAAGCGCTCAGCAAAGGGCTGCCCAGCACCATAGATGCGGCCGTAGTTGAAGATTTTGGCATGCTCACGGCTGATGCCCACAGTAGTGGCTGTCTTACTGTGTAGATCAGTGCCCCTGCTCTTCCTGCCCTGCAGTGTCATCCACCCAAAGGCTGTGCAGCCTGGAAGACAAGCAGGAGTGAGAAAAGCAGCTCAGGAACATTCTGCCCAATGTTCATCAGAACTGTCAATATGCTGAGGGGCTGGGCTGCCCCAACCCCGGCTCCTGCTCACCATGCATGCCGGCAAAGTGGGCGTCTCCAAGCACAGCTGCAATCCACAGCTCTTGGGAGTCCACATCAGCACCCACAAGGGTGTAGCCAGGTGGGGCCTGCACCATGGCTTTCAACTCACTGCCTACTCGGTCAGGCTGTGGGAAGAGTGAGATACCCAAATGAGACTCTTCCTACCCCATTCCTGGAGCCAGAGTTGACTGAGAAAGAGCTAGAGCCTTTCCTGAGGGGATGGCTTTAGAGAATGCCAGACAGCACTGCTGAAATTCCACAGTTCCAGAGATGGCCACCTATCAGCAATTGGTGTGACAGGTAAAGAATCTACTCTATGCCTAGCGCTATGCCAGACCCCTCACCTACACGGTCCTATCTAAATTCCATGAGAGCTGTAGCTATTACGCCTGTCACGGTCTGGCCAGGAGCAGGTGCCCAGAACATATTTACTGAAGGAGTGGACAGAAATCATGAAGCCAGATTTGACTAGAGTCCTGCCTGACCCAGATCACAGGGTCCTTTTCATGATCCTCACTAAATACCTAAAGGCCCTCAGAGCCCAGTTTCTACAGACCTGGGAGAGGAAGAGCAGGGGCCAGAGGTACAGAGGTCACATACCCGGGCATTGCTGGCGGTGAGCCATGTGGGCTCCACAGCCCGGCGAGTGATGGTGCTGGCAGTCACCACTTGGGGCAGGATGGCCCCATAGAGGCCTTCCTCATCATAGTCGGGGTGCCTGGTGGGGTGCAGGGGAAGGAAATGGGTCTTAGCAGGGTGCTTTGGCCTTAGGACCTACCACCTCACCTCAGTTCTCCTATCCCTACAACCACTCAGCAGACCATACCTGATCACAGCACGGGGCAGAGCTGACCTGGGCAGCCACACCACCATCTGGGAGCTGTGGGGACAGACAACGTGAGGCTCAGCACAGCCATGGGAAGCAGAATCTATCCCACATCCCACCATGGCCCTCACCTGCCCACCTCCAGGACTGCTATACTCCATTACCCAGCCTCACTAACTGGACTCAAGGTGAGCCCTGGCTCAGCCAAGAACTGGGGCCCTATGATACACCAATCAAGAGCATAAACCATCTGGGAACCGGCCAGGCCTCCGAGCGAGCTTCCGCTCCTCTCCGGGGGGCATCCATGAGGCGCTCCTTCCACCAATGCCTCTTCCTACACACAGGCAGACTTCACCATCCCAACACCCACTCTGCTCGCCAGTGTGCTGATGGCCACAACCACCTTGGAAATGGCCTTCAAGATGAATACATTTGCCATTCCAGACTAGAAGACCCAGCTCCCAGCCCCCAACAGGGCTTACAGGCCACCAGCTCTCCATGGTCCTCAGCCATAGCCCACGGCTCCAGCAGTTACACCAAGAAGTTCTGTTGGAGCTACGAAGGGCTCTCATGGTCCTACAGCACCATTCTTTTTACATTAACAGGGAAACTGAAGCTAGAGGGGAGACCTGCCCAAGGTCCATGGCACCAGGACCAAAAGTAGCCAGGCCTCTAGACCATAGTCAGGCTGGCCCTCTGTGGGAATCCAGGGTTAGTCAGGGGTCCCTGGGTGGGAAGAGAGGGGAAAGGCATCCCAGGACTCCTCCCATGGTGGCCCACCTGATACGTTTATGGGCGTTCCTCCAGAAAGAAATCATTTTGTTGATTTCCAGAGCACGGGGCCCACTGGCACCTCCTGGGCCAGCCTGCAGGGTGCCATCCTCCATCTTGGGCAGGAAGTCCTTGGCAAAGGGGCTTCCCACATTACAGCTATTACCATCCTGGACAGAGCAAAGGAAGCAGGGGCTGGAGGCAGGTGGCAGACCCCTGGGTGGGGAACCAACGTGAGTACCTGCACTCCTCCCAACACTGAGCCCAGAACCTCAGCAGTCTGAGGCAAATCCCTGATTGTATCACGCACGCGCGCACGCGCGCACGCACACACACACGTGCACACACATGCCCCCTAAGACACACAGACACAAGCAAACCTGGCTCCCTGCATAATAACAAATCGGAAAAACCTATCACGTACCAGATGTCGTACCAAACATACGACGTGCCCCATGTCATTTAATTCCACCACCATGCCCCTTGCCACCCGACTTTCATTAGAAAAACAAAAGCTGAGAGATGACAGTATGTGCCTGAAATCACACTCTGTCCCACTACTAGTCATTCCCACAAAAAGGAAAGTCTCAGGTGTGTCACTCTGAAGGCCTGCTGTGGGCCTTGAGCAGAATGAGGAAACACCACAGGACAGGCCATGACCCAGGACACACCTTGTGAGGCAGCTTGAAAAACCAGCAGCCAGGGATGTCCACGTCGTTGTAAGGTCCATTGCCATGGTGATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACT
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Task1_train_21852
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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.
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Pathogenic; Progressive sclerosing poliodystrophy
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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Task1_train_21853
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Gene POLG (DNA polymerase gamma, catalytic subunit), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Mitochondrial DNA depletion syndrome 4b
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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Task1_train_21854
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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?
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Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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Task1_train_21855
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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.
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Pathogenic; Progressive sclerosing poliodystrophy
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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Task1_train_21856
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This variant affects gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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Task1_train_21857
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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Task1_train_21858
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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?
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Pathogenic; Mitochondrial DNA depletion syndrome
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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GATAGCTGGGCTGGGTGTCCTTGGGGCCACCACGGGCAGTCTGTGAGGGCCACACACCTATATCAGGCCCTGCTCCAGCACCTGCATTCAGCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCACCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCA
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Task1_train_21859
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome 4b
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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Task1_train_21860
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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?
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Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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Task1_train_21861
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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.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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Task1_train_21862
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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Task1_train_21863
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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.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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Task1_train_21864
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Consider this mutation in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is this a benign change or a disease-causing variant?
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Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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Task1_train_21865
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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Task1_train_21866
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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?
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Pathogenic; Inborn genetic diseases
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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GCAAGGGCCATGGGGTAGGGGGTGGGAAAAGGGCCTGAAACTGTCGTCATCAGCTGGGAAATGACAAGATGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCACATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGT
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Task1_train_21867
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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TGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGAC
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TGGCCATGAGGTCTCACCCAGGCTTTCTCCTTGCTCCAACACGTGTGGGGCCTCCCAGGGGCAGGGTGGCATCTCCAACCCCCTTAAGACCTAGGGAACTCTGGCTGGGAAGAACTAGGTGGGCAAGAGGAAGCCCTTTCCACCCAGCACCCACCTAGAGAACCCAAGCCGGCGCACTGCTCACCAGAGCTAGGGGTTGACCTGGCACTGCAGCTCGCAAGTTCTCCATCTTGGCCTCAGCCTCCACTTCTAAGTAATCCAGTTCTTCTACCTGGAGCAGTCCAAGGACCAAAGTAGTGAAGCAGGGGACTGGGTAGGCCCCAATCCACCAGCCCCTCCCTGCATGGTACTCAGACACTGCAGGCCAGTCTGGGGTGAGCCACCAGTGCCAGCCTCCCACCCAAAGGCTGCCCCTTCCCTGGGTGGAATACAGAGACCTCCCCTCCCCAAAGCTCAGGTTCAGAGCCTGCCCTCACCGTTTGCCATATGGCACTATTGTCAGTGAGCAGGAACTCCTCCGCCAGGCCGGCCTCCTGGGGCATCAGCTGCTGCTTCCCCTGTTCGAGACAGTGCTTCCTGTACAGGGACTCGATGGCTCTGGGCAGAGAACAGTAGCAGCAGCAGCCGCTGATTACCAGATGCCCACTCTGGGCCAGGCAGCTTGCTAGTGCCTTCCACAATTCCCTTTGTTTAGTCCTCAGAATCAGCTCTGAGGCAGAACCAGATAGCACTTTCCCGGGTTTTAGACAGGGATTGATTGACAAACTGAAAATGACAGCACCCTGGCAGCAGGCTGGGGTTCAAGGCCTTGTCTCACTCAAATCCAAGTTCCTCTTACACTACAGAGCTGCCGTCTCAAGAGAAGTTCTGAGAGCACAGCAGCGGGAGGACAGGACCCAAGGCCCAGCTGCAGGCTGGCTCCTGTCCGCTCACCTACCCTCGGGCTCAAAGGAGCAAGGCCAGTGTTATCCCCTTTGGTCCCATGGCCCCATAAGAGACTCAGGCTGCCCTGAAGAGCCAGGACTCTTAATTCTGGGCCACTGTAAGTTTCTCCCCAACACCTGCCTGCCTAAAGCTCAGGGTCTGTGATCTTAAGTCAACCAAGCCTTTGTCAACTACAACATGGGGATAACCATTCTAGCTCATGGGACTCCTTGGGGAACAAATAAGGGAAGCACTGCTTGGCCCATAATTATCACTCAAATTATATACACACACTTTTTTAAAAGCCCATCTCCCTGCTACTTGTAACAGCCCTCCGCATGTTCCTGTGAAGGCAGCTATGCTTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCAGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGAC
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Task1_train_21868
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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TTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTG
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TTCTGGGCCCAAGAGTAGGGCCTTTAGTCCTCCCCACTGTGAACATCTCAACATACTCCCTCCCAGAGCTCTGAGATCCAGAGGGTAAGGGTAGCCATGGAAGAAAAAACCTGAACCCAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGTTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTG
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Task1_train_21869
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21870
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21871
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome 4b
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21872
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Consider this mutation in POLG (DNA polymerase gamma, catalytic subunit) on Chromosome 15. Is this a benign change or a disease-causing variant?
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Pathogenic; POLG-Related Spectrum Disorders
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21873
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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?
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Pathogenic; Inborn genetic diseases
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21874
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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.
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Pathogenic; Neurodevelopmental delay
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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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?
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Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21876
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21877
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome 4b
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21878
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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?
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Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21879
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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.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21880
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21881
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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?
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Pathogenic; Mitochondrial DNA depletion syndrome 4b
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21882
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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.
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Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21883
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21884
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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.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21885
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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?
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Pathogenic; POLG-related disorder
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21886
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21887
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21888
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This variant affects gene POLG (DNA polymerase gamma, catalytic subunit) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hereditary spastic paraplegia
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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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?
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Pathogenic; Tip-toe gait
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21890
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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?
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Pathogenic; Mitochondrial DNA depletion syndrome 4b
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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AGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGTCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCA
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Task1_train_21891
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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TGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCA
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TGAGTGAGTGAGAGAGAGAGAAAGAGAGAGAGAGAGGGTGTGTGTGTGTGTGTTAATTTTTTTCCTGTTTTCCCTTCTTCTGAACCCAGACTCTTGAACCCAAACTCTTTCCACTAGCCTGAGCTGACCAGCCAGGGGAAGGGGTCCCTAGGCTCCAGCCCCTTCCTCCCCTGGGCCTAAGCCTTACCTGTAGGGGCAGACCACCCCAGCTGACTCCAGGGTGGTACCTGTCGGCAGCTTGGCCAGGTTGTCCCGCCGCCCAGGCACCAAGTAGCCCCAGCCATGACGCTCTGAGTAGTGCAGAGGGAAGCCATCCCAGGTAAGTGCCATGAGTTTAGGTGTGACCCGCATCTGCAGGCTGAGGAGGCTGGGGCCCGGGGTCCATGCAGGGTCGTCTAGCCGGGGGCAGAGCTTCCGGTACCATCTACGTCCCAGCAGGAAGACAGCAGTGTCACGATGGTAAGGGCAGTTGTTGGGGGGAAGGTTCTCTCTCTCACAATGTCCCCACCCACCCTCCAAAGCCCTGGGGCTTTCTGGTGACCCCAGCCTACAGCCGCCATCCCCTCCTCTGGGATGCTTTAGCCAGGACCCCCATGGAATCCTCTAGAAGAATATTTCAAAAGCAAAGACACTAAGTCAGTCCCACTGGACTAGTCAGAAGCCAGGACACAAAAGCATACCCTGACCCAGGGCAGGGCTCCTTCCCAAGCTCCATTTCATCCAGGGTAACTGACCAGAGGAGGGAGCAGATCTGCCCTCCCCACCCCTCTAGAGAAACACCAGTCCTTCTGGGTGCTCTCTTGCAGGCTGTTCACCAGAGTTGAGCCCAGGGTGAGACTAGCAAGGCACTCAGGACACTTGCTCTCAGGGTCTTGCAGGTGCAAAGCTGGCACCCTGCTGCTCACCCTGGCTGCCCTTTTTCTCATCTCTGCCACCCTATGAGGCTCAAAGGAAGGGGCACCTTCTCAAGGAAGCCTTCTTGATTTATTTCCCGAGGCAGAGTCAGAACTCTACCTATGGACACTAGCTGCACTGGCTGGTCTACGTGCCTGGCTCCTCCTAGGAAAAAGAACTACTGGAAAGGAGGAGCTATGCTCCAGTGTGTACACCCGGTGGCTGCCACGGGCCATTGCACAGCAGGTGCTCACAACACTGTGCTGAATGAGTCCAGTGAGCCGGTCCAGAGTGAGCAAATGAGAATAGGACTGGAAGACAGTGTGACTGAATGGCAGCAGGTCAATAAGTATACATGTGCATGATGCCTCTGTGCCAGAACCCAGACCAGGGCTGTCCTGAGAATGGAGCAAGGGTAGACTCTAGATACACTGCTGGGGGTGGGCAGGGCTCACCCAGGGTGTCCAGGAAGGTGCTGGGGCCGCTTGGGCAGGAGCTCTGTGGTCCCCTTCAGCTTCTGCAAGCAGGCGCGGGCCATGACATCTTGTTGAAACTCCTCCTCCTCACTGCAGGGGCCGAGGTCTGTGAGGGTGGGGGAAGACAATCAGGAGCAGGAGAAGGAACTCTCAATAAGATCTGCTCCCACCCGCTCATCTCCAGAAGGCTGGAGCAATCCTTTCGAAGGACCCCCTCAATCACAGGACCTTCCCAGAGACAACCCCTACCCTACCCTACCTCCCACCCATGCTCCCCACCTTCCTGATCCATGGGATCACCAGGGGCCCCAGCCCCCTCGATGGGCAACTTGCTGGCTGTGGCTGGTTCCTTCTTCACCTTCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCGTCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCA
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Task1_train_21892
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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.
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Pathogenic; Progressive sclerosing poliodystrophy
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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Task1_train_21893
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome 1
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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Task1_train_21894
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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?
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Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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Task1_train_21895
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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.
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Pathogenic; Progressive sclerosing poliodystrophy
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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Task1_train_21896
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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.
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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Task1_train_21897
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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?
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Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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Task1_train_21898
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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.
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Pathogenic; Mitochondrial DNA depletion syndrome 4b
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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TCTTAGCTTTCTTCTGCTTAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCACTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGAC
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Task1_train_21899
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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?
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Pathogenic; Progressive sclerosing poliodystrophy
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TAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCCTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGACGAGGCCACGTGTGGACAA
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TAAATTCTTGCAGGTCCCACTCCAGGTCCCAGAGCCAGGGGTCTTCTTTGTACCTACAGAGCCAGTCCACTAGGGCAGGGCTAAGGCTAAGCCGAAGGCTAGGCCGCCCACCTGCCAGTCCCCTGCCTAGATCCTGCCCACCCAAGGCCTGGCTACCTCTCTCCTGAGAGCAGCTGGCAGGCATCATTGGCCAGATCCATCAACGACTTCTTCATCTCCCGCTGGAGCTCCTCATAAGTGCCCTGTGCCTCTGCCAGGTAACGCTCCCAGTTCTGGTTGACAGGCAGGTAGGAGACACCCATCTCCAGCATGCCGGCCAGAGTCACTGGGTGGGGACACCTTGGAGGCAAACACCAGGAGCTGCCATAAATGACCACAGGAGGCAAGACTGGCCCAATCCCTGAGCTGGTTTAGCAAGCCTCAACCCAGCCACTGACATGGCACAGCTCAAAAGTCAGACGGCATTAAATCCCAGCTCTACTGTTACTCATCCCTGGGTAAGCAACCCCATCTCTCGGAGCCTCAGTTCTTTCATCTATAAAATGGGAACAATATCATCCCATCCTCAGGGGTAATGTGGGAAATATAGATGGCAAAAGTGAAAATGGCTGCCACACGTGGAGTAATGACTCTGTGCCAGGCACTGTGCTAATAATCCCATACATGAAAAACATCATGCCTGAACCTCACAACTTGGGTGGTAAAATACAGCTGACATTTAAACAACACATGTCTGGATCGTGCAAGTTCACTTACACATTTATTTTCTTCAGCCTTAGCCACCCGAGACAGCAAGCCCAACCCCCGCCCTCAGCCTACTCAACGTGAAGGATAGATATCTTTATGATGATCCACTTCCACCTAATGAATAGTAAACATATTTTCTCCTCATGATTTTCTTAATACATTTTCTTTTATCTAGCTTACTTTAAGAATACAGTATATAATACGTATAACATAAAAAATATGTATTATGTTATCAGTAAAGCTTCTAGCCAACAGCAAGCTATTAGTAGTTAAGCTCTGAGGGAGTCAAAAGTTACACCCAAATTTTCCTCCCTTCTTTTTTCTTTCCATATCTTTGGTACAAATATACCTGAATTTTCAGCATACAAGGGTCACTTCATAAGACAGACTCATTAATAAACATAACCACGCTGTATGTGAAGCCCTTGGCTAAGGATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCTGGGCACAGTACTGCATCAGGTCCTGGCACAAGGTGACAGGAAGGCGCAAGGTGGGCAGCCATCCCATTACCACCACCAGCTCTCAGGGTCAGGCCTGGCAGCTGCATCTCCCCAAGTGCAGCTAGGGGTGTGCCACAGCCCATGTCCCCAGAGCCCCCTCCAGCACCATACCTGGAAGTTCTCACGAATGTCCTTCATGGTGCCCTTCACAAACAGTTCTCGAGGCTCCTTCTCTAAGGGAGGCCCCCCTACATAAAGTCTGTGCACCTCTGCCAGACTGTTGACACTGCTGATGTCCAGCCAGTCCCAGGATGAGATCTGGGGAACCAGAGCAAGGGACATGGCAGATCAGCCTGGCCTCGGGCCAGACGGGCTGGTGAGAGGGGGTCCCAAGCACTATGCTCCTGCCCACCGGCAGTGTGCTCTCACCGCTGGGCCTCTTCTGGCTTTCCTCTGGGACTTCTGGCCTTGCTTTGTGGGGGGCTGGACCTTGTGTTTGCCCTGCTTGGCTGCTATCCACAGACTGCGCTGGAAGCTGCTTAGCCTTGAGATGGCCATGTGCATGCTCATGGTGTCCAGGAAACGCATGCGGGAACCCTGAGGAGGAGGAGGAGAAAAGGGAAGGGAAGGAGGGAGGCTGCAACTGTGGGGCCAGCCCACCACTGCTTGGTGGTGTGGACCTCCAGCCCCACCTCAGCTCCTCAAACAGCCTCCCCTCCCAGCACACAGCCTTCAACACCAAATACAGAATCCTCATGCTTGTTCATGCTTGCCCCATCACCTGTAAGGGGCCTGCCTTCCCAAATCCTAGCCACCCTTTAAGATGCAGGCCTGGCTCAATCCCAATGTGCAAGTCCTTCTCAGCTTCCAACAATAGCTCTGAGCAACGTAGATACAGAGTGGCCAAAATAAAGCCTTCAGGGCTATCTGGTCTGGCCCCAACCCTGCCACTCAAAAGCTCTGTGGCCCTGAGCATGTCAACAAGGCTGTCTGAGCCTCAGCACCCTCAGCTATAGGGTAAGGTTGCTCTCCCCTGCCTGGCCTATCTTCTAGGGCTGTTGTGAAGATCCAGTGAAAAAACACTTTTCATAAAATTAAGAATTGCCACTACTATACACCAGGCAGAGTGCTGAGTGTTTGACATGCAGGCATTGTTCCAACCCTCCTATTAATCCTATGAGATTTCTGTTATGTCTGCCTTTTTATAAAAAAGGAAACTAAGACTTAGAGATGTTAAGGCGCTCACAGTAGTCATCGGTGGTTAAGGCAGGAAGTGAGCCCAGGCTGTGGCTCAAAACCTTCAAGACCCATGCTAAGCTCTAAAATGCCACAGAGACGAAGGCCATTATTACTTTGTGACAACTTAGGTCCTATACCAGGCTTTCCCGGGGACATACAACAGCTAGGCACAGAGACCAGAGGCACAGCTGGTCAACAGATGCGCCTTGCGGCTTCAGCAAAGGCAACAGAGACACGTGCCAGGAAAGGAGTACCTCCCCTAACCACTGAGATTAGGGCTCCTGGCCCATCCCATGCCAGAACCTGCAGTTGGCCCCAGGAACCTTACCTGGATCAGGTACTGCTCCCTGATATGAGCTCGGTCAAAGGAAACATTGTGCCCCACCACTAACTGCTCCTGCCAGTCTCTCTGGGTGGGGCTGCTGGCACCAGTAGGGACCTCCAGGGGGATGAGGTCAGCCGGCGACAGCTGGCTGGTCCAAGAGTAACGCTCTTCCACCAGCCGCTGGCTGCACCAGGAATACCTGAGGGAGGTGAGAGGCAGGCAGGTTCACCATGGAGACATTAAACTTCCACTCCACAACAACCACTGCACACCTACCGCCACATGCCAGATGGTGCATTGGCAGCTGGGGACACAAGTGAGACCAAAGGGTGCTCCTAACTCAAACAGCTACAGGTCAGGTGTGGCAGGGTGGGTGTGTGTGCTGGCGGGCAAGAGCTACAAAAGCTTCTTTAAACTTCTGCACATAAAAATGGAACTACTGGGCTATTAGACCTACGTGCAGGTATTCTATTACAGCCTGGGCTATCAAGGTGTTTGCTAGGCCCAGCGTTCACTGAGTCTGCATCTAGCTCTGAGGTTTTATGAACATTATCAACCCCTCACGTCTACAGGCACAAACCAGCTACTGTTCAAAGTACTAGTAAAGGAGATAGACAATAACAGAACCCAAGGTGGAGATTTAATTGAATTGGCAAAAAAAAAAAAAATGACAAATGCTGCTGCACACATGTACAGGATGAATCATCTCACGGCTGAAAAGATTCTGGGGGACAAAGAGCAAATCACACACCTTGGAGAAGCAACCACCCTCAGTGAGAACCAGGGAAAGTGCCAGAATGAGAAAATGTATGTGTATGTGACAGGGTTGGGGTGGGAGGGATAGGGGATGAGTGCTGCCTGTTGGGGGCCCGACACTGATTCAGGAAAAGGCTGCAGTTTGCTCAAGATCCACAAGGCTAGGTGTAGGGGAATGGCCACTGAGGAAATGCCTGTTGCAAGCCACAGATTATTCTAAACAATCAAGGCCCACTCAGCATCAAAGTGAGTGACGAGGCCACGTGTGGACAA
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Subsets and Splits
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