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_17900
|
A variant was discovered on Chromosome 12, affecting KRT5, LOC126861526 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Epidermolysis bullosa simplex
|
TTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATC
|
TTCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCTCCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATC
|
Task1_train_17901
|
This variant impacts the gene KRT5, LOC126861526 (keratin 5| BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Epidermolysis bullosa simplex
|
TCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCC
|
TCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCAACTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCC
|
Task1_train_17902
|
This alteration occurs within gene LOC126861526, KRT5 (BRD4-independent group 4 enhancer GRCh37_chr12:52912066-52913265| keratin 5) located on Chromosome 12. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Epidermolysis bullosa simplex
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TCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCC
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TCTTGACATTGTCAATCTCGGCTCTCAGCCTCTGGATCATCCGGTTCATCTCAGAGATCTCATGCTTGGTGTTGCGGAGGTCATCGCCATGCCGGCCAGCTGTCTGCTGCAGCTCCTCATACTGATGCAGCCAGGAAAGAGGAAAGATTCTGTTTATATGAGAATGGGAAGAACTTTCCCAAAGTTCACAGGCAGTGAGTACTAAGTGGTGGCAAATAGTGTGGGGCTGGTTCAGGCTTTTCCAAGGCTGAGCTAGTCTAGTGCCTTTGCTCTCCTGGAGACACTGGTGTGAGATTCAGAGTGAGATTATTTCTCAGGTCCTTGGGTTTAGATGGAAATTGTCTACACAGCCATTCCTATAAAGCATCCCAATGGGCTTCAGCAGGTTCCAGGAGCCCCATTCTTAGTGTCGTCATGGCCTAGAATCCTAGACATGGGTGTGTCCCCTCACTCAGGAGACAGTCATCAGAGCACCCACCTTGGTCTGATACCAGGACTCGGCTTCTGTCCGGCTGCGGTTGGCAATCTCCTCATACTGGGCCTTGACCTCAGCGATGATGCTATCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAGAGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCATCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCC
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Task1_train_17903
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The variant affects gene KRT5 (keratin 5), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe
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AGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCA
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AGGACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGGGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCA
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Task1_train_17904
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Given a variant located on Chromosome 12 and affecting KRT5 (keratin 5), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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ACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGG
|
ACCACTGAGGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGGAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGG
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Task1_train_17905
|
Located on Chromosome 12, this mutation impacts KRT5 (keratin 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; not provided
|
GGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGG
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GGTGTCAGAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTACTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGG
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Task1_train_17906
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The gene KRT5 (keratin 5) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Epidermolysis bullosa simplex 2A, generalized severe
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GAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACA
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GAGACATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAAGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACA
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Task1_train_17907
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A genetic alteration is present in KRT5 (keratin 5) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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CATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGC
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CATGCGTCTGCATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTGTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGC
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Task1_train_17908
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Assess the clinical impact of this variant on gene KRT5 (keratin 5), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Epidermolysis bullosa simplex
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ATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTC
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ATCTGGGACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTTGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTC
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Task1_train_17909
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The gene KRT5 (keratin 5), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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GACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTT
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GACAGCTCCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTTCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTT
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Task1_train_17910
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This variant affects the gene KRT5 (keratin 5) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Epidermolysis bullosa simplex
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CCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGG
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CCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTACTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGG
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Task1_train_17911
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Located on Chromosome 12, this mutation impacts KRT5 (keratin 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; not provided
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CCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGG
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CCTGCAGGGAGATTTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTGCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGG
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Task1_train_17912
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With a mutation on Chromosome 12 in gene KRT5 (keratin 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Epidermolysis bullosa simplex 1C, localized
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TTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCC
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TTGGAGTCGGTCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGCTGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCC
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Task1_train_17913
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Gene KRT5 (keratin 5), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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TCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAG
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TCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTAGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAG
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Task1_train_17914
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Consider this mutation in KRT5 (keratin 5) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE
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TCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAG
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TCATCTGGTTCTGTGTTGTGTTATTTAATGTCAGTTCCATTCAAATCTTTCACTCATTGTGATATGACAACTTGAGGAAAAAAAACCCACCCATGTGAAAAATTTAGATAAGTTTCTTACCGCATCAAAGAACATCTTCATGAAGTTAATCTCATCCATCAGTGCATCAACCTTGGCCTCCAGCTCCACCTTGTTCATGTAGGCAGCATCTACATCCTGGGGAAACAGGGATGATTGGCACTGCACACACCGTCACCCTACTCAAGTGAGCTCCACGCTTAGAGAGCATAGCTGCAGGCTGCTGGTTCTCTCCCACCCACACGCACCTTCTTCAGCATCACAAACTCATTCTCAGCAGTGGTACGCTTGTTGATTTCATCCTCATACCTGGTGGTGAAAGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTTGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAG
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Task1_train_17915
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A change on Chromosome 12 affects gene KRT5 (keratin 5). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Epidermolysis bullosa simplex with mottled pigmentation
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AGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAGGTAGGAATGCAATGGGGATGGCTTCAAAGCCTCAGGGAGGAGGGGCTATATTCTCAAGAGTAGAAGAACAGGACCAGACCCAGGCTCAGGAATCTCTCACCAGGGCCTGCGGTTGGCCACAAGGAAGCCAAGGCAGTGGGAAAATGACTCCCTGGTGCTGAGGATCAGCTGAAACAGTGACTTCTCACCAGAGGGCTGCGATGAGCAAGCAGCTGACAGGTCAATCTCGGCAGACAGACCAATGGCCGGAGCCGGTCTTACAGGTCTTGAGCAAAATGGTTTGGGTGGCCTCCCTGGCTGGAGCATTTCTGAGACCCTCAGAGATGAATTGTGCTGAGCTCACCATTTTCACATTTGGTTGCTTTCTGGAGAACAGATGTGAGTGTCCTGGAGGCCTG
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AGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACAGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAGGTAGGAATGCAATGGGGATGGCTTCAAAGCCTCAGGGAGGAGGGGCTATATTCTCAAGAGTAGAAGAACAGGACCAGACCCAGGCTCAGGAATCTCTCACCAGGGCCTGCGGTTGGCCACAAGGAAGCCAAGGCAGTGGGAAAATGACTCCCTGGTGCTGAGGATCAGCTGAAACAGTGACTTCTCACCAGAGGGCTGCGATGAGCAAGCAGCTGACAGGTCAATCTCGGCAGACAGACCAATGGCCGGAGCCGGTCTTACAGGTCTTGAGCAAAATGGTTTGGGTGGCCTCCCTGGCTGGAGCATTTCTGAGACCCTCAGAGATGAATTGTGCTGAGCTCACCATTTTCACATTTGGTTGCTTTCTGGAGAACAGATGTGAGTGTCCTGGAGGCCTG
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Task1_train_17916
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A variant affecting Chromosome 12, within the gene KRT5 (keratin 5), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Epidermolysis bullosa simplex
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AGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAGGTAGGAATGCAATGGGGATGGCTTCAAAGCCTCAGGGAGGAGGGGCTATATTCTCAAGAGTAGAAGAACAGGACCAGACCCAGGCTCAGGAATCTCTCACCAGGGCCTGCGGTTGGCCACAAGGAAGCCAAGGCAGTGGGAAAATGACTCCCTGGTGCTGAGGATCAGCTGAAACAGTGACTTCTCACCAGAGGGCTGCGATGAGCAAGCAGCTGACAGGTCAATCTCGGCAGACAGACCAATGGCCGGAGCCGGTCTTACAGGTCTTGAGCAAAATGGTTTGGGTGGCCTCCCTGGCTGGAGCATTTCTGAGACCCTCAGAGATGAATTGTGCTGAGCTCACCATTTTCACATTTGGTTGCTTTCTGGAGAACAGATGTGAGTGTCCTGGAGGCCTG
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AGGGATGGGAAGTGTTTGTCAGAGGATGAGCAACAGGTAAGGGGTCTTTATTATGCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACAGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAGGTAGGAATGCAATGGGGATGGCTTCAAAGCCTCAGGGAGGAGGGGCTATATTCTCAAGAGTAGAAGAACAGGACCAGACCCAGGCTCAGGAATCTCTCACCAGGGCCTGCGGTTGGCCACAAGGAAGCCAAGGCAGTGGGAAAATGACTCCCTGGTGCTGAGGATCAGCTGAAACAGTGACTTCTCACCAGAGGGCTGCGATGAGCAAGCAGCTGACAGGTCAATCTCGGCAGACAGACCAATGGCCGGAGCCGGTCTTACAGGTCTTGAGCAAAATGGTTTGGGTGGCCTCCCTGGCTGGAGCATTTCTGAGACCCTCAGAGATGAATTGTGCTGAGCTCACCATTTTCACATTTGGTTGCTTTCTGGAGAACAGATGTGAGTGTCCTGGAGGCCTG
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Task1_train_17917
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Chromosome 12 houses a mutation in gene KRT5 (keratin 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Epidermolysis bullosa simplex 2B, generalized intermediate
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GCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAGGTAGGAATGCAATGGGGATGGCTTCAAAGCCTCAGGGAGGAGGGGCTATATTCTCAAGAGTAGAAGAACAGGACCAGACCCAGGCTCAGGAATCTCTCACCAGGGCCTGCGGTTGGCCACAAGGAAGCCAAGGCAGTGGGAAAATGACTCCCTGGTGCTGAGGATCAGCTGAAACAGTGACTTCTCACCAGAGGGCTGCGATGAGCAAGCAGCTGACAGGTCAATCTCGGCAGACAGACCAATGGCCGGAGCCGGTCTTACAGGTCTTGAGCAAAATGGTTTGGGTGGCCTCCCTGGCTGGAGCATTTCTGAGACCCTCAGAGATGAATTGTGCTGAGCTCACCATTTTCACATTTGGTTGCTTTCTGGAGAACAGATGTGAGTGTCCTGGAGGCCTGAGACATACCAGGGGACCCTCGGCTCCTGATAGAACAGAACAGATCCAAGCCTGA
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GCAGTCAACTGTAAGCCTACTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACGCACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAGGTAGGAATGCAATGGGGATGGCTTCAAAGCCTCAGGGAGGAGGGGCTATATTCTCAAGAGTAGAAGAACAGGACCAGACCCAGGCTCAGGAATCTCTCACCAGGGCCTGCGGTTGGCCACAAGGAAGCCAAGGCAGTGGGAAAATGACTCCCTGGTGCTGAGGATCAGCTGAAACAGTGACTTCTCACCAGAGGGCTGCGATGAGCAAGCAGCTGACAGGTCAATCTCGGCAGACAGACCAATGGCCGGAGCCGGTCTTACAGGTCTTGAGCAAAATGGTTTGGGTGGCCTCCCTGGCTGGAGCATTTCTGAGACCCTCAGAGATGAATTGTGCTGAGCTCACCATTTTCACATTTGGTTGCTTTCTGGAGAACAGATGTGAGTGTCCTGGAGGCCTGAGACATACCAGGGGACCCTCGGCTCCTGATAGAACAGAACAGATCCAAGCCTGA
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Task1_train_17918
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A mutation found in KRT5 (keratin 5) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; not provided
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CTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACATGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAGGTAGGAATGCAATGGGGATGGCTTCAAAGCCTCAGGGAGGAGGGGCTATATTCTCAAGAGTAGAAGAACAGGACCAGACCCAGGCTCAGGAATCTCTCACCAGGGCCTGCGGTTGGCCACAAGGAAGCCAAGGCAGTGGGAAAATGACTCCCTGGTGCTGAGGATCAGCTGAAACAGTGACTTCTCACCAGAGGGCTGCGATGAGCAAGCAGCTGACAGGTCAATCTCGGCAGACAGACCAATGGCCGGAGCCGGTCTTACAGGTCTTGAGCAAAATGGTTTGGGTGGCCTCCCTGGCTGGAGCATTTCTGAGACCCTCAGAGATGAATTGTGCTGAGCTCACCATTTTCACATTTGGTTGCTTTCTGGAGAACAGATGTGAGTGTCCTGGAGGCCTGAGACATACCAGGGGACCCTCGGCTCCTGATAGAACAGAACAGATCCAAGCCTGAAGCAAGTGTCTGAGGACTC
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CTTTTGCAGTGGGAAGGGGCTTCTCCTCATAGGCAGAGAGGGAGGGGACACTGGTAGCATGAACCTCTGGCCAAGGTCCCTCCCCATTTAAATACTGCTTTCTCTGTAACTGCCTACCATATAATAATTCTATTATTGCTCTAATTCAGTTGTTTCAAGCAGATTCCTGCAGAAAAGCTGTGCTGTTTCTCCCCAACTGCATTACCTAGTCAATTTCTCTAGTGTTCTTTTTTGAGCTTTCAGAGGCTTTAAAAAAAAAAAGAAAAGAAACAAAATTAAATCTAGCATCCTAGTTGCTGGTTCATAAGACTAAAGAAATTACTTGAGCCACCAAGCTGGGTTATGTCACCAGCTCCTGCTTTGAGACAAATCTATCCAAAGGCCCATGTACCGGGGAGGAAAGTCCCAGAGAGCAAGCCTTACATCAGGGCAGATTTCACCAGGTAGTGCCAAGGGCACAGAGCATGTTGCTCTGGCTGTTGACTAAGTTCCTTGCAGAGGGCCTGAGCCTGGGGCTGGAACTTTCTAAACATGAGCCTGGCTTGTGTATTTGTTTGTTTGTTTTAGTACTGGAGGTGTCCATGGAAGGTATATCCTCCCAGCCCCAAAGGAAGGCATGGTAGTAGACTAGTAACAAAGCCCATCTGGTACCAAGAAGACACCACCCTCCCCTGTGTCCACCCTCCACCCCAACTCACTTGTTCTTGAAGTCTTCCACCAGGTCCTGCATGTTTCTCAGCTCTGAGTCCAGGCGGCCCCGTTCCCCCACGATGCTGTCCAGCTGCCTCCTGAGGTTGTTGATGTACTGCTCGAACAACGGCTCCAGGTTCTGCCTCACAGTCTTGGTGCCCTGCTCCTGCAGCAGGGTCCACTTGGTGTCCAGAACCTTGTTCTGCTGCTCCAGGAACCGCACCTGGAGGGGAGCAGGGTTTGAAGATAGAGAAACTTGGATTTCATGTTCTATGATCAACTCACTAAGGTGCCTCCCACCTCTTTCCGTCCCTCTAAAGCTTTTCTGTGCACTGTGCCTGGCCCTGGGCCCCAGGAGGGGAGGTGCAGACTGAGGCACCCAAACTCACTTTTCCAGGGGGAGATAGGACACCTATCCAGGGCACAGAAAGCACTAGGAGTGCTGCTTGGAGTGTGTCCCGGCTCAGGGGTGGCTGCAAAGGCACTCAGGCTGCTGCCCATGCACTTGTCTACCTTCCTGTACAGTCAGCCCCTTTATATATGGCATGAAATTCATCTCTCTGTCCAACAGTTGTTAAGAGGCCCTTGTGAGCTAACCTCTGAATGGGAAGAAATAATTCTCCCTTCCCAGCTGCCAGTCTAATTCAGAACGTGTCCACAAATCCAGGGCACAGAAACAAACGGAAACACAGAACTGTACAACTATAAAAGTATTTGCACAAAGCCAAAACATCTTCCTTCTTTCTCTCTCTTTGGCATTTATTTCAGACCCACAGTGATTTTTTACAAAAGATCGTAGCTCACCTTGTCGATGAAGGAGGCAAACTTATTGTTGAGGGTCTTGATCTGCTCGCGCTCCTCGGTCCTCACCCTCTGGATGCTGGGGTCGATTTGCAGGTTGAGGGGAGTCAGGAGACTCTGGTTGACAGTGACCTCTTGGATACCTCCAGGAGGGCAGACAGGAAAGCCAGGGCCACCGAAGCCACCTCCAAAGCCAGCTCCGCCACCGAGCCCAAAGCCACCACCAGCTCCACCGCCGAAACCAAATCCACTACCGGCACCACCTCCAAAGCCATAGCCGCCTCCAGCACCAGCACCAAACCGGTTCCTGAAGCTGCCACCACTAGTGCTGATGGATATCCTCTTGGAGCCCCCCAGGTTGTAGAGGCTCCGGCTGCCATAGCCACCCACTCCACAAGCACCCGCAAGGCTGACCCTGCCGAAGCCACCACCACCGCCACCCCCGGACCGGGACACGGAGGTGAAGCTGGTGCGGGAGACAGACGGGGTGATGGCAGAGGCGGTGCTGAAGCTACGACTGCCCCCGCTCCGGAAGGACACACTTGACTGGCGAGACACGGTGGCTTGTTCCTGGTGGAGCAAGAGAACCAGGCACTAGTGGGTTGGGAGGTGCTGGAGAGAACAGAGCTCAGCAGGACGCAGAAGGTGGCTCTGTTACCCAGGAACGGTGATGCCCCCTTTTTATCCCTTCCAGAACTGGGCTGGGCGAGAGAGCTGTCGAGCTGTGAATGATTAAGTGGGCTGGGCATGCCTGGGGGGCAGCTGTGAGCTCACCGGTCACACCTGCACAGTGGTGTGGGGTGCAAACGCTTTCTTCCTGGCAGGCTCTGCTCAGTTAGAAATAACCTTGCCTTGCAGCACTGATCTCTTGGCAGCAAGTTGGTGACGCTGCTAGCAAGTATGTCTTCACCATAGAGGCTGGGGGCTGTGAGCAGCCCAAAAAGGATGCCAGGAACTGAGGGGGCATTGGCATGGCCAGTGTCCTGGGGACTCTTACAGGACCAGGAGTATTGACAACCATCCCAGTACGGTACATGCTGAGCACCTGCCCTTCCAGCTTGGGGAAGCTGTCCATCAGCGGGGGGCAAACGATTCCCCAGTGATCTGCTCTTACACTTTTCCAGGCAGCAGGTTGCTGCAGGGTTTTCCCCTCTGGGAAAGGCAATCTGTAGCCTTATATTCTTGGTTATGTGCTAGAGGGAAAATAGAGTTTCATCCTTTTCTGCACAATTTTTTTCTTAGGGAAGGCACAGCTATCCCAGAGCCCACTGGGCAGATCTGCCTGCAAGGTTTAGGCCAGAGAATGTGGGAAGCCCTCAGCGCCCCCTATAAACCACTTTGACCTCTTTAAGGCCAGGTTTATCCTTCCATAGCTCCTCCTAACTCAGCATTTTTTCTGCCCTTTGACCTTTTCCTTGCTCTTTGGCCTGGGCAGGACTCTGTGGGGGGTTTAGGAAACCCGGGGATCCCATGCAATCCCTTAAAAAAAAACCCTGAGACTCATGGGCTATAGCGTCTCTCTTTGGGGGTAGCTACTCTGCCGGTTCCCCAGCCCCCCAGGTGTGTTCCAGCAAGCTCTATTCCACTAGGGAAGAAATGAGTCATCGTATGTGTTGATACAGGCTGAAGGCCGCCACAAACACATACCTGCAGGAGCTTCTAATCTCATCAGGAACATGTTGAGAGTCTGACGGCCTGTTATAACGGCGAACCACCCTGTTCCAAGCAGCGGGACTTGCTCTGCTTTCTCTATGCTGTAGCCCACAGCCTCCTTCAGGGCCAAGGCAATGGAAAACGGGATTCTAAGTCTATGGATTGTCCTGCCAGAAAGGCTAGCCAGAGCAGGCCTGTGGGCCCAGGCAGCTGGCATGACAATCTGCCAGCTGCTTTAGGGAGGGCCCTTTGAGATCCCCTCTGCAAAACTTGTCTGGGGGGTTGTGGCACCAGGTGGAGGAAAGGGGGTTTCTGATGAGGTTTTAACACACGTCTGTTCTAAACCACACCCACTCTTTTTGGCAGCAGATCTGAGTGGGGCCACCTCTCTGCCGTCCCCCAAATAGAAGCAGGGCTCTCAGGCAGGACAGTGCTTGGGCTGTTCAGAGTTTCGGGGGCGCCCTGTGGCCCGAGGCTGGAGGTAGGAATGCAATGGGGATGGCTTCAAAGCCTCAGGGAGGAGGGGCTATATTCTCAAGAGTAGAAGAACAGGACCAGACCCAGGCTCAGGAATCTCTCACCAGGGCCTGCGGTTGGCCACAAGGAAGCCAAGGCAGTGGGAAAATGACTCCCTGGTGCTGAGGATCAGCTGAAACAGTGACTTCTCACCAGAGGGCTGCGATGAGCAAGCAGCTGACAGGTCAATCTCGGCAGACAGACCAATGGCCGGAGCCGGTCTTACAGGTCTTGAGCAAAATGGTTTGGGTGGCCTCCCTGGCTGGAGCATTTCTGAGACCCTCAGAGATGAATTGTGCTGAGCTCACCATTTTCACATTTGGTTGCTTTCTGGAGAACAGATGTGAGTGTCCTGGAGGCCTGAGACATACCAGGGGACCCTCGGCTCCTGATAGAACAGAACAGATCCAAGCCTGAAGCAAGTGTCTGAGGACTC
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Task1_train_17919
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The following genetic variant occurs in KRT71 (keratin 71) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Hypotrichosis 13
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AAGAAAAGTCTGCTCTTCATTTCAGGGCATGTCAGAGCTCAGTAAGGCTTGGGCCAAGGGCTTCTAGGTATTTTAAATGCCTGGAGCAGGCACCAGCTTCATCTTTGCTTATAGCCCCTCCTCTCCCTCCTTGGTCCTGCTCCCCAGAACCATCTTCTCTGCAACAAGCATGGCACATGGAACATGATGGACAGATGGAGCTCCTGATCCCATTGTAGCCCCTCACTGAGGCAGGAAACTGGCCAGAAGGAGATGTCCATACACACCTCTTGTTTGGTTTTTGGGGATGGGGAGCACAGTTTTTAAAATGTGACTTCCCTTAATCTACATGAGCACAGCTACTGCTTGAATAAGGTTGTCTTCCCCAACATCAGAAACACAAGACATGGGAAAACTATCTAAGATTCAGTGTCAAGATAGAATTATTCCCCGAAAATTTGTCTCTAGCCCGTCTTCCAGCATTTGGTCTGGTTTAACCAATCCTGAATTTTTCATGTGATCTACGAGGCTGAGCATTAACCACAGAGTAAATCCTGCATCTGAGACACCACAATACACACCTGCACTACTGAACACATCTGGATGCCGAAAGGATTTACCCGTCTTCTCTGGCTGCCTGAGGTTAAGGGACTGATCTCTGGAGACTGAAATTATTTGGGAACTGTCCAAGCCTTTCAGCCTCCTTCCCCTCCCTCTGGGCAGACCATCTTTATAAACAGGATGTGACCCTCCTCATGTTCATCTTTCTTCCCATGTCTCCAGACTTTATCCTTCTGTAGGTTTTGACCAGCCGAGCCAAGAATCAATCAGTCCACTCCCATCACCCAGACCCCATCTCAGAACACTTTGATCTTGCAGATATGAAAAGGCTTAGAAGAATAAGAAGCCGCAGAGCCAGTCCTAGCCCCTGAGGCTGAGCCGAGGGCAGCAGGGACTCCTCCAGGCAGGAAGTCTGAGCTGCAGGAGCTGGCTAAGCTCTGATGGCCACATGACCGTCTCACCCATAGACTTTGTCCTGGGTTGACCCGTCCTTGGTGCCTGACTGCCACAGAGCCAACAGAACCCTCCAGTCTCCTCCTCTGGGTCTGGAGGCAAAAGGCTGAGGGTCCAGCCTCACCCTTCCCTTTCCCCAAATGACCCTGGGAATGCCATTTACCTCCATGCCTTCAGTGACTCATACGATAGGGATAATCATTTCTTCTCTGCCAGAAGTCAGGGGCCTATCTGGACTGTGTCATCTCTTCAGGTCTCTAGACACCTTTGATTCCTCCCCTGAGCTTCCCTCCCCCACATTCCAGAGATAAGAAATGAGAGTCACAATCACAATCATTTTTGGAGTATTTAGTGTGCGTCAGGCTTGTGACAAGATCTTCACCTGCATTTTCTTTTATAAGCCTGACAACAACCCCAAGACAGAAGTTATTATCTCCATTTTAGAGATGAGGAGATGGCAACACAGACAGGCAGATCACCTTCCCAGAGCCACTCAGCTGTGGCCAGCAGTGAGCACAAGAGCACCGTGGAGTCCCCTTCCCCAGTGCCCTCTTCTGCCTCTCAAGAAAGTCTTCAACTGACTGGAGCAAATGCCCAATCAGAGGGCCTGAAGCGGCCCCTTCCTGCTGCTCCTGATCCGCTGGGCAAGTGACCAGTGGGCAGGGCAGCATGCCAGGGGAGGAGGACAGCTTCCCTGCTTACTCTGGGCGAGACTGGCTCTCACAGGCCTTTTCTGCACACGGCCTGCAGGCCTAGCAATGGCACCAAGCTAGCCCTCAAGAGGAAGGACCACATCTCTTGCTGGGAGCCCTGAGAAGCCTCTGCCAGTAGAAATTGACCTGCCTCTGTTTTCTCTCTGGAAAGACAACACAGAGAACCTTACACAGGTCACCCTGTTGATGGGATGTACCTACCTTGTCCACAGTAAAGTCTTCCTCACATCTAACCTCAATCTCTCCTGCTGTAACAAAATCGTATGTTCCAAGAAGAGAAGAGGAGGGCTGTTCACAAGTTCCCCAGGCCCTAGAAGACCCACCTTGTCGATGAAGGAGGCGAACTTGTTGTTCAGAGCCTTGATCTGCTCTCGCTCCTGGGCACGCACTTTCTGGATCTCGGGGTCCAGCTCCACGTTGAGGGGGGCCAGGAGGCTCTCATTGACGGTAACCTGGTGGATGCCTCCAGGTGGGCATACAGTTGGGCACACAGGCCCCAGGGCCACACTGCCAAACATGCTTCCAGCAAAGCCACTGGCCCGGCCCCGGCCAAATCCATAGCCTCCACTCTTCCCGCTGCCACTGGCCACATTGAGGCTCCGGACACCCCCCAGGCTGTAGAGGCTCCGGCTGCCAAAGCCCCCACTGAGCCCTTTGCTCCCTGCCCGGAAGGAGGATGAGCTGCCCCCTGAGAGCACAGCTGAGCAGCCACTGAAGCCCCCCTTGGCGGCAGCTCCCGACTTGCAGGTGAATTGGCGGCTCATGTTGCTGGTGGAGACAAAGCTCAGATGCAGGAGGGAGGAAGGCAAAATCCCAAAAGGTTCTGCTGGTTGTAGTGAGGACTGGCAGGTGCCTTTATATGTGCTTGGCACTGGGGCTTGTGGATGGGCAGTCAAGAGCTTAATTCGTGGGTTTGGCTTGCCTGGGAGCAAGAAGTCATTTTCTCTATGCTGAGCTAGAGATCAAGCCCTCTCCACCTCTGAAACAACATGAAACCTTCAAATTGCTGGGCTTGCAAGCTTTGCTCATGTAATTTGGGTCTTATCTAATTAACCTGCTGTTATAGGGTAATTTGCCCCAGGCCCTGGCCTCTCCAGGGGGATGTCACTGGCACTGCACCATCCCTATCCTGATTAATCTTCTCTGGGTTGTTGGCTTCCTCCTGGGGATGCAGCAGGTGAAGACAGGATGGACTTTCCTGGATAGTTCAGGACACTGGGTAGAGTACTGGGGCCTCCAACTTCTGTTCTCCTCCTTCCTGGAAAGGGACTGATCAGGCATTACCTCTCCCCAGGCCTCCTGGAAACATAACCCATAGAGGGCAGCTGCTCTCACTCATGGGGTATTAGGAGGTGGAGTGACCCTCTCGCTAGCATGGGACAGAAGCAGCCCAGGCCAGAGCCAACCACGGGCACTATCCTCACTTCTCCCCCCTCAAACACCCATAATAAAGCAGGCTGGAGGCTTCAAACACTGGAGAAAATGAGGACGAGAAAAGGAGGATGGAGTTGGGGCAGGTGGCTGAGAAATTCAGGGACTTGACTGGAAGGAGGTACAGAGAAGACAAAGACAGAGGCTGGCCCATGGCCTGGAGGGTTATGGAGATTCCTGGGTGGTCCACTTCCTCATTTCTGTCTCTCCTCCAATGTGTATCTGCTAATAAGACTAGGAACAACTTGAGGACAGTAATCATCTGTTTAGAGTTCAAATAAAGAAGCTGTTATCAACATGAAACTTAACTCCTATTGCCTCTGTCCAGGCCCAAGTGAGCCAAGAACAAGGCTGGCTGAGCCCTCCCCAGGAGTGCAAGCCTCCAGGCAGGCTCAGACCAGAAAGACCCAATGGGGGCGACCCAGTAAGCACGATGTCATTCTACTCCAAACAGTCCTTTGATGCCAGCCCCAGAGACTCTGGCTGCAGCCCCTGCTTCCTAGCCACTGGCTCCTGTGTTGGGCCCCAGCTACTCCCATGATCGCCATTGCCACTGTGGCCCTATTCAACCCAAGGCAGCTCTGTCCCTGAAGATCACCCTTGCCCAGAGATCCCTGCTGGAGCCCCATGGGTGAACAGCAGCTCTTTGCTGGGTGGGGCACAGGAGGGAAGAAAATCTGGAGACAGGCTGGTTTGGGGCTCTCTCTCATATTGTTTAGGGGAAGAGCCTGGACTCCAGTCCCTCCCAATCCTCTGCATTCCTTCCTCTACTCTTGCCCCTGCCATTTTGTCTTCTTTGCTCTTACTGAAACTACCCGAATTTTCCTATCCCTGCCTTCTCTCTTTCTCACCTTCTCTCTCCATCCCTCCTCATCCCTCCCATCCATCTTCCCTCCATCCTTCCCTCTCAGCCTTTCGCCATCTCTTGTTCTGTCACTTCCCCATCCTGCTCTCCTCCA
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AAGAAAAGTCTGCTCTTCATTTCAGGGCATGTCAGAGCTCAGTAAGGCTTGGGCCAAGGGCTTCTAGGTATTTTAAATGCCTGGAGCAGGCACCAGCTTCATCTTTGCTTATAGCCCCTCCTCTCCCTCCTTGGTCCTGCTCCCCAGAACCATCTTCTCTGCAACAAGCATGGCACATGGAACATGATGGACAGATGGAGCTCCTGATCCCATTGTAGCCCCTCACTGAGGCAGGAAACTGGCCAGAAGGAGATGTCCATACACACCTCTTGTTTGGTTTTTGGGGATGGGGAGCACAGTTTTTAAAATGTGACTTCCCTTAATCTACATGAGCACAGCTACTGCTTGAATAAGGTTGTCTTCCCCAACATCAGAAACACAAGACATGGGAAAACTATCTAAGATTCAGTGTCAAGATAGAATTATTCCCCGAAAATTTGTCTCTAGCCCGTCTTCCAGCATTTGGTCTGGTTTAACCAATCCTGAATTTTTCATGTGATCTACGAGGCTGAGCATTAACCACAGAGTAAATCCTGCATCTGAGACACCACAATACACACCTGCACTACTGAACACATCTGGATGCCGAAAGGATTTACCCGTCTTCTCTGGCTGCCTGAGGTTAAGGGACTGATCTCTGGAGACTGAAATTATTTGGGAACTGTCCAAGCCTTTCAGCCTCCTTCCCCTCCCTCTGGGCAGACCATCTTTATAAACAGGATGTGACCCTCCTCATGTTCATCTTTCTTCCCATGTCTCCAGACTTTATCCTTCTGTAGGTTTTGACCAGCCGAGCCAAGAATCAATCAGTCCACTCCCATCACCCAGACCCCATCTCAGAACACTTTGATCTTGCAGATATGAAAAGGCTTAGAAGAATAAGAAGCCGCAGAGCCAGTCCTAGCCCCTGAGGCTGAGCCGAGGGCAGCAGGGACTCCTCCAGGCAGGAAGTCTGAGCTGCAGGAGCTGGCTAAGCTCTGATGGCCACATGACCGTCTCACCCATAGACTTTGTCCTGGGTTGACCCGTCCTTGGTGCCTGACTGCCACAGAGCCAACAGAACCCTCCAGTCTCCTCCTCTGGGTCTGGAGGCAAAAGGCTGAGGGTCCAGCCTCACCCTTCCCTTTCCCCAAATGACCCTGGGAATGCCATTTACCTCCATGCCTTCAGTGACTCATACGATAGGGATAATCATTTCTTCTCTGCCAGAAGTCAGGGGCCTATCTGGACTGTGTCATCTCTTCAGGTCTCTAGACACCTTTGATTCCTCCCCTGAGCTTCCCTCCCCCACATTCCAGAGATAAGAAATGAGAGTCACAATCACAATCATTTTTGGAGTATTTAGTGTGCGTCAGGCTTGTGACAAGATCTTCACCTGCATTTTCTTTTATAAGCCTGACAACAACCCCAAGACAGAAGTTATTATCTCCATTTTAGAGATGAGGAGATGGCAACACAGACAGGCAGATCACCTTCCCAGAGCCACTCAGCTGTGGCCAGCAGTGAGCACAAGAGCACCGTGGAGTCCCCTTCCCCAGTGCCCTCTTCTGCCTCTCAAGAAAGTCTTCAACTGACTGGAGCAAATGCCCAATCAGAGGGCCTGAAGCGGCCCCTTCCTGCTGCTCCTGATCCGCTGGGCAAGTGACCAGTGGGCAGGGCAGCATGCCAGGGGAGGAGGACAGCTTCCCTGCTTACTCTGGGCGAGACTGGCTCTCACAGGCCTTTTCTGCACACGGCCTGCAGGCCTAGCAATGGCACCAAGCTAGCCCTCAAGAGGAAGGACCACATCTCTTGCTGGGAGCCCTGAGAAGCCTCTGCCAGTAGAAATTGACCTGCCTCTGTTTTCTCTCTGGAAAGACAACACAGAGAACCTTACACAGGTCACCCTGTTGATGGGATGTACCTACCTTGTCCACAGTAAAGTCTTCCTCACATCTAACCTCAATCTCTCCTGCTGTAACAAAATCGTATGTTCCAAGAAGAGAAGAGGAGGGCTGTTCACAAGTTCCCCAGGCCCTAGAAGACCCACCTTGTCGATGAAGGAGGCGCACTTGTTGTTCAGAGCCTTGATCTGCTCTCGCTCCTGGGCACGCACTTTCTGGATCTCGGGGTCCAGCTCCACGTTGAGGGGGGCCAGGAGGCTCTCATTGACGGTAACCTGGTGGATGCCTCCAGGTGGGCATACAGTTGGGCACACAGGCCCCAGGGCCACACTGCCAAACATGCTTCCAGCAAAGCCACTGGCCCGGCCCCGGCCAAATCCATAGCCTCCACTCTTCCCGCTGCCACTGGCCACATTGAGGCTCCGGACACCCCCCAGGCTGTAGAGGCTCCGGCTGCCAAAGCCCCCACTGAGCCCTTTGCTCCCTGCCCGGAAGGAGGATGAGCTGCCCCCTGAGAGCACAGCTGAGCAGCCACTGAAGCCCCCCTTGGCGGCAGCTCCCGACTTGCAGGTGAATTGGCGGCTCATGTTGCTGGTGGAGACAAAGCTCAGATGCAGGAGGGAGGAAGGCAAAATCCCAAAAGGTTCTGCTGGTTGTAGTGAGGACTGGCAGGTGCCTTTATATGTGCTTGGCACTGGGGCTTGTGGATGGGCAGTCAAGAGCTTAATTCGTGGGTTTGGCTTGCCTGGGAGCAAGAAGTCATTTTCTCTATGCTGAGCTAGAGATCAAGCCCTCTCCACCTCTGAAACAACATGAAACCTTCAAATTGCTGGGCTTGCAAGCTTTGCTCATGTAATTTGGGTCTTATCTAATTAACCTGCTGTTATAGGGTAATTTGCCCCAGGCCCTGGCCTCTCCAGGGGGATGTCACTGGCACTGCACCATCCCTATCCTGATTAATCTTCTCTGGGTTGTTGGCTTCCTCCTGGGGATGCAGCAGGTGAAGACAGGATGGACTTTCCTGGATAGTTCAGGACACTGGGTAGAGTACTGGGGCCTCCAACTTCTGTTCTCCTCCTTCCTGGAAAGGGACTGATCAGGCATTACCTCTCCCCAGGCCTCCTGGAAACATAACCCATAGAGGGCAGCTGCTCTCACTCATGGGGTATTAGGAGGTGGAGTGACCCTCTCGCTAGCATGGGACAGAAGCAGCCCAGGCCAGAGCCAACCACGGGCACTATCCTCACTTCTCCCCCCTCAAACACCCATAATAAAGCAGGCTGGAGGCTTCAAACACTGGAGAAAATGAGGACGAGAAAAGGAGGATGGAGTTGGGGCAGGTGGCTGAGAAATTCAGGGACTTGACTGGAAGGAGGTACAGAGAAGACAAAGACAGAGGCTGGCCCATGGCCTGGAGGGTTATGGAGATTCCTGGGTGGTCCACTTCCTCATTTCTGTCTCTCCTCCAATGTGTATCTGCTAATAAGACTAGGAACAACTTGAGGACAGTAATCATCTGTTTAGAGTTCAAATAAAGAAGCTGTTATCAACATGAAACTTAACTCCTATTGCCTCTGTCCAGGCCCAAGTGAGCCAAGAACAAGGCTGGCTGAGCCCTCCCCAGGAGTGCAAGCCTCCAGGCAGGCTCAGACCAGAAAGACCCAATGGGGGCGACCCAGTAAGCACGATGTCATTCTACTCCAAACAGTCCTTTGATGCCAGCCCCAGAGACTCTGGCTGCAGCCCCTGCTTCCTAGCCACTGGCTCCTGTGTTGGGCCCCAGCTACTCCCATGATCGCCATTGCCACTGTGGCCCTATTCAACCCAAGGCAGCTCTGTCCCTGAAGATCACCCTTGCCCAGAGATCCCTGCTGGAGCCCCATGGGTGAACAGCAGCTCTTTGCTGGGTGGGGCACAGGAGGGAAGAAAATCTGGAGACAGGCTGGTTTGGGGCTCTCTCTCATATTGTTTAGGGGAAGAGCCTGGACTCCAGTCCCTCCCAATCCTCTGCATTCCTTCCTCTACTCTTGCCCCTGCCATTTTGTCTTCTTTGCTCTTACTGAAACTACCCGAATTTTCCTATCCCTGCCTTCTCTCTTTCTCACCTTCTCTCTCCATCCCTCCTCATCCCTCCCATCCATCTTCCCTCCATCCTTCCCTCTCAGCCTTTCGCCATCTCTTGTTCTGTCACTTCCCCATCCTGCTCTCCTCCA
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Task1_train_17920
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A variant was discovered in gene KRT74 (keratin 74), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Hypotrichosis 3
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AGCTAGACTCTGCCGGCCACAGCTGAGGGACTTAGAAATCCACCCAGCCCCACTGCAGATTAAGCATCTCTAATCCAAAAGTCTGAAATCCAAAGTGCTCCAAAACTTTTGGAGCATTTTATTTAAAATTTGTACAAAATTATCTTTAGCCTACGCAGAAGGTATATATGAAACATAAATGAAGTTCATGTTTTGATTTGGGTTCCATCCCCGAAGTATCTCATTATGCACATGCAAACATTTCAAAATCCAAAGTCAGGAATGTTTCTGGTCCCAAGAATTTTGGATAAGGTATACCCAATCTGTATTGACTTTGGAAAATCTGAGATCTCCCACCCCCTACTAAATAAGCACATGAAAGCCTGTGTCCAAACTACTATGTTGCTGTGATTTAAATTCCCTCTCCAGGAGCCCATGTGTCCATCTTTCTGGTTATTTAATTAAACTCTCCTCCTCTTCCAGGAAGCCTTCCTTGCTTAGCCTCTCTATTCCAGTCCCTTACTAGCATTGCTGCCTTAGGCTGCCCTTCCCTGATTTACATGAGTGTGTATCTGTCTCTTCCAGCAGCCTGAGATTGCCTCCAGAGCAGCCTCATCTGAGTTGGCCTGCAGCTTCCCAGCAAGAGTCCTGCACGCTTGCTGGGGAGAAATGGAGGGTGGCACATCATCACTAGAGGGTGGAACATTTGGAAAGATTAACAGACTGACAGAAGCATACCTCTGACAACACTCAAGGACAACTTAATGAATATACAGCAGAAATTCAGAGTCTTTAATTCAAACAAAAGAGGAAATAGATGCTGCCATTCTTAGGAATATTTACACCCTGAGCCACGACATCTGGACTAGGCAGTAGCACTCAGCGACAGAAAAGCCAGCTCCACTCACTGAGCTCAGCTCATGGCACCAAAAATTGAGAGTCAGAAGCTATGTAGGACACAGCCCCAGAGAGACTGTGGAAGACAAATCACATACCCACAGTCCTGACAAAAGGCAATGTAATTACGCTGCCCTCATCAAAAAGAATGGTGACTTTGACAGCCCTTTTGTTAAAAAGGCAGTGACACACCACAGAAAAAGCATAGATCCTTGTGTCGGCCAGGCCTGACTCTGGCACATAGGTGGGTGACTGGGGCCAGTTCAGCAGCCTCTTGGGATCAGGCTCCCAGTCTGTTCCAAGGATGCTCATTGCATCTTCTTTGCAGGAATGGATGAGAACAGGAGGCAATATGTGTAGGGTGTCTGGCATCTAGTAGGTGCTTGACAAATGATGGTAGCTATTGCTGATAATGAAGGAGGTGGGTGGGTGACACAGGCTGGCAGAGAATCCCCAATACACCTTCACTTGGCTTTGTGGAGATGGGTGCAGCTGGTGGTCTACAGATGTACACGTGGTGTCCTAAATATTGGCGTCATCCTGCAAAGTTGTTTCTGATGGAGCAAGTAAAGGCTGTCTAACTTCTCACCACCTGCTTACAGGTCTCGTGTCACCCCACCATGCTGGCAGGGGATGTAAAACCTCTCAGACAGTAGCTAACTTGGCCTAAGCACAGAACAAACCAGCCCCTCCCCTGTCGTCTCCTGCTCCTTCCCTCTTTCTAGGGATGATCACAGCTTCCTTAGGGCCAAGAAGGTTATAATGGCTTGTGCCTCCAAAGCCTCCTGCCAGCCAAAGGCAGCGAGGAAAATGAGAAGTCGTTAGTCCACATGGGACCTAAGGAAACAGGGAAGGTGACTGTGTCAATCAGAGCTTGAAAGTAAAAGCTAAACCACGATGCAGACAGTTGAGTGTACTACAGACAGTTTTAAAACTCAGGGCCTGGGAACTTGGGTGTGGCAGACACCTTTGGGGGTGGCAAAGTCACCTCTTCTTCCAAGTGCTGAGGTGGGTGAGGCCATGGGTCTAGCGGGTGGCTTTCCTTGCTGGGATGCTGGCTGGGGTGCTCTTGCCCTGGGTGTCCTTGAGGTCTCCCCCTCGCGCCTCTGTGGTCTTGGTCTGCCCGCTCTGGGTGCTGCCAGAGCTGCCTGCCACAGCGCTGGCCCCAAGGTCAACACCCGCAGAGCTGGGGTGGTGGTAGCTGTAGCTGCTACTGCTGATGACAGCTGAGGAGGAGGGGCCAAGAGCAGGGGAGAGGAGCAGTGTCAATCAGCAGATAACAGCTATGGTAACGGCTGTCCCCAAGGGCTTCTCCACAACAACACCTCATTTAATCCGCAGAACCACCCTCAGTAGTCAAGAAGCACTACAGAGATGAACTGAGAGCCTATTACGGGCCGGACTTCGTGTGAGGTGAAGACCCCATCAGATAGATACAGTCCCTGCCCTCCTGGAAATGCTAGGAAAATCCATGTCCACCAACCCTTTCTCCAAATGACAACGTCCCAGGGGAGAAACAGGAAGGGAAAAGGGTGGGCATGACCTCAGTCACCATTTCACAGGATGAAAAGGGAGAACATTTCCTTTGAAGCCCAGAAACCTTCCCAAGACAGTAACAGAAGCTTCTTGGGAGGTGAGACAGTAAATGGAGGTGACATCACTTTGTCCCAGGGTCCCTGGCTTTCCCAACCCAAGGCATCTCTCAAGAATACTCACAGATGCTCACAGAGGATGGATTCTCACCAGACATCCTGTGAGACAGAAAGTTAGAGAAAGATAAAAACTCAGTGTCGAGATTCCACTAAACATCAATGGGCTCCTGCTTTTATACGTGCATCATTTAAACTCATCCTTATAACAACTTACGAAACTGACACTATCGCCTTCATCTTACAGATGAGAAAACAAGAGTCCTGGAGATACTAGATGATTTACCGAGACCACACCACTAGCATAGGATAAAGCCAATAATTAGCCCCTGCTGAAGAGCCAGTCATTAGCCCCAGGTCTGTCTGAGCCCCCGGTTCTCATCACAGCAGCACACGGCCATCTACGCTTCATGGCTCATGTCCAACAACCCCTTGCAGGAAGCTGCCTCTGAGTTCACGAAATCACCACATCTCTTGCTTGTATTGGCACTAACCATGTTGTTCTCCAGGTGGCCCCTCAGCCAGACAGGAGCCACACCCCAGTCCCTTCTCACACTTTCCCCTCCACCCCACCTACCTGCACTCCTCGCCCTCCAGCAGCTTGCGGTAGGTGGCAATCTCCATGTCCAGGGCCAGTTTCAGGCTCATGAGCTCCTGGTACTCGCGCAGCATCCGCGCCAGCTCCTCCTTGGCCTGGTGCAGGGCGCCCTCCAGCTCATCCAGCTTGGCCTGGGCATCCTTCAGGGCATTGTCTCCCCGCTGCTCAGCGTCAGCGATGGCCGTCTCCAGGCTGGCACGCTGAAGGGCAAAGAACAGAGAGACCATCAGAACAGAAAATTACATTTAGCTCATACCAGTTAAGTAGAACAATGCCCTCATTTTGCAGATGGGGCCCTAGGTGACAAGGAGTAAAAGCTGCAAAGCCAACACCAGAACTTTGTCTCTTCTATTTTCTATTGCAGAGGAGTATTCAAAGCTGTTATCACATGAAGCTGTGGAAGCAGTTGCATTTCAGGAGGTCAGGAAGAAATGTCGATGTTTGCAAAGTTAGATAGTGCCTGAGACCGGAGGCCACCAGTATCTACAGATTCAAAATACTACAGGTTCAGGAAAATCATGCCCGATCCCCTAGCAAGGCCAGCCCTGAGGATGAGACAGTATGCCACGGTCCCACTGTGATCAGATTCCTGCTGCAGGACCTCTCCCCATTGGGGATCCTTCTGATCTGTTAGCATCCAGATGAGTGTTTCTGGACTCCAGCACTCTGGGGAGAGTCTGTGTGAAGGCTCCCACATCTGGCCTTCCCTTAGAGCAGGAGGATAAGGCCCTAAATTATAGGCACAACCTCAGAAGCTGGACTCTGATGAACATCTGGGGGGCATTGCGATGCCTGTTGCTAACAGAGAGGGAGGAACTATGCTCATGGAATTTGTGAATCGGCCAAATGTAGAGTCGTAGAGTTGTCCCTGTGTTTGCCTGCAGAGCATGGAGGGTTGTGGGGGCACCAGAAGGAGAACAGGCTCAGATCTTTCCGCTGGTCAATTCTATCACTAGCAGAGCAGACCTGGTTC
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AGCTAGACTCTGCCGGCCACAGCTGAGGGACTTAGAAATCCACCCAGCCCCACTGCAGATTAAGCATCTCTAATCCAAAAGTCTGAAATCCAAAGTGCTCCAAAACTTTTGGAGCATTTTATTTAAAATTTGTACAAAATTATCTTTAGCCTACGCAGAAGGTATATATGAAACATAAATGAAGTTCATGTTTTGATTTGGGTTCCATCCCCGAAGTATCTCATTATGCACATGCAAACATTTCAAAATCCAAAGTCAGGAATGTTTCTGGTCCCAAGAATTTTGGATAAGGTATACCCAATCTGTATTGACTTTGGAAAATCTGAGATCTCCCACCCCCTACTAAATAAGCACATGAAAGCCTGTGTCCAAACTACTATGTTGCTGTGATTTAAATTCCCTCTCCAGGAGCCCATGTGTCCATCTTTCTGGTTATTTAATTAAACTCTCCTCCTCTTCCAGGAAGCCTTCCTTGCTTAGCCTCTCTATTCCAGTCCCTTACTAGCATTGCTGCCTTAGGCTGCCCTTCCCTGATTTACATGAGTGTGTATCTGTCTCTTCCAGCAGCCTGAGATTGCCTCCAGAGCAGCCTCATCTGAGTTGGCCTGCAGCTTCCCAGCAAGAGTCCTGCACGCTTGCTGGGGAGAAATGGAGGGTGGCACATCATCACTAGAGGGTGGAACATTTGGAAAGATTAACAGACTGACAGAAGCATACCTCTGACAACACTCAAGGACAACTTAATGAATATACAGCAGAAATTCAGAGTCTTTAATTCAAACAAAAGAGGAAATAGATGCTGCCATTCTTAGGAATATTTACACCCTGAGCCACGACATCTGGACTAGGCAGTAGCACTCAGCGACAGAAAAGCCAGCTCCACTCACTGAGCTCAGCTCATGGCACCAAAAATTGAGAGTCAGAAGCTATGTAGGACACAGCCCCAGAGAGACTGTGGAAGACAAATCACATACCCACAGTCCTGACAAAAGGCAATGTAATTACGCTGCCCTCATCAAAAAGAATGGTGACTTTGACAGCCCTTTTGTTAAAAAGGCAGTGACACACCACAGAAAAAGCATAGATCCTTGTGTCGGCCAGGCCTGACTCTGGCACATAGGTGGGTGACTGGGGCCAGTTCAGCAGCCTCTTGGGATCAGGCTCCCAGTCTGTTCCAAGGATGCTCATTGCATCTTCTTTGCAGGAATGGATGAGAACAGGAGGCAATATGTGTAGGGTGTCTGGCATCTAGTAGGTGCTTGACAAATGATGGTAGCTATTGCTGATAATGAAGGAGGTGGGTGGGTGACACAGGCTGGCAGAGAATCCCCAATACACCTTCACTTGGCTTTGTGGAGATGGGTGCAGCTGGTGGTCTACAGATGTACACGTGGTGTCCTAAATATTGGCGTCATCCTGCAAAGTTGTTTCTGATGGAGCAAGTAAAGGCTGTCTAACTTCTCACCACCTGCTTACAGGTCTCGTGTCACCCCACCATGCTGGCAGGGGATGTAAAACCTCTCAGACAGTAGCTAACTTGGCCTAAGCACAGAACAAACCAGCCCCTCCCCTGTCGTCTCCTGCTCCTTCCCTCTTTCTAGGGATGATCACAGCTTCCTTAGGGCCAAGAAGGTTATAATGGCTTGTGCCTCCAAAGCCTCCTGCCAGCCAAAGGCAGCGAGGAAAATGAGAAGTCGTTAGTCCACATGGGACCTAAGGAAACAGGGAAGGTGACTGTGTCAATCAGAGCTTGAAAGTAAAAGCTAAACCACGATGCAGACAGTTGAGTGTACTACAGACAGTTTTAAAACTCAGGGCCTGGGAACTTGGGTGTGGCAGACACCTTTGGGGGTGGCAAAGTCACCTCTTCTTCCAAGTGCTGAGGTGGGTGAGGCCATGGGTCTAGCGGGTGGCTTTCCTTGCTGGGATGCTGGCTGGGGTGCTCTTGCCCTGGGTGTCCTTGAGGTCTCCCCCTCGCGCCTCTGTGGTCTTGGTCTGCCCGCTCTGGGTGCTGCCAGAGCTGCCTGCCACAGCGCTGGCCCCAAGGTTAACACCCGCAGAGCTGGGGTGGTGGTAGCTGTAGCTGCTACTGCTGATGACAGCTGAGGAGGAGGGGCCAAGAGCAGGGGAGAGGAGCAGTGTCAATCAGCAGATAACAGCTATGGTAACGGCTGTCCCCAAGGGCTTCTCCACAACAACACCTCATTTAATCCGCAGAACCACCCTCAGTAGTCAAGAAGCACTACAGAGATGAACTGAGAGCCTATTACGGGCCGGACTTCGTGTGAGGTGAAGACCCCATCAGATAGATACAGTCCCTGCCCTCCTGGAAATGCTAGGAAAATCCATGTCCACCAACCCTTTCTCCAAATGACAACGTCCCAGGGGAGAAACAGGAAGGGAAAAGGGTGGGCATGACCTCAGTCACCATTTCACAGGATGAAAAGGGAGAACATTTCCTTTGAAGCCCAGAAACCTTCCCAAGACAGTAACAGAAGCTTCTTGGGAGGTGAGACAGTAAATGGAGGTGACATCACTTTGTCCCAGGGTCCCTGGCTTTCCCAACCCAAGGCATCTCTCAAGAATACTCACAGATGCTCACAGAGGATGGATTCTCACCAGACATCCTGTGAGACAGAAAGTTAGAGAAAGATAAAAACTCAGTGTCGAGATTCCACTAAACATCAATGGGCTCCTGCTTTTATACGTGCATCATTTAAACTCATCCTTATAACAACTTACGAAACTGACACTATCGCCTTCATCTTACAGATGAGAAAACAAGAGTCCTGGAGATACTAGATGATTTACCGAGACCACACCACTAGCATAGGATAAAGCCAATAATTAGCCCCTGCTGAAGAGCCAGTCATTAGCCCCAGGTCTGTCTGAGCCCCCGGTTCTCATCACAGCAGCACACGGCCATCTACGCTTCATGGCTCATGTCCAACAACCCCTTGCAGGAAGCTGCCTCTGAGTTCACGAAATCACCACATCTCTTGCTTGTATTGGCACTAACCATGTTGTTCTCCAGGTGGCCCCTCAGCCAGACAGGAGCCACACCCCAGTCCCTTCTCACACTTTCCCCTCCACCCCACCTACCTGCACTCCTCGCCCTCCAGCAGCTTGCGGTAGGTGGCAATCTCCATGTCCAGGGCCAGTTTCAGGCTCATGAGCTCCTGGTACTCGCGCAGCATCCGCGCCAGCTCCTCCTTGGCCTGGTGCAGGGCGCCCTCCAGCTCATCCAGCTTGGCCTGGGCATCCTTCAGGGCATTGTCTCCCCGCTGCTCAGCGTCAGCGATGGCCGTCTCCAGGCTGGCACGCTGAAGGGCAAAGAACAGAGAGACCATCAGAACAGAAAATTACATTTAGCTCATACCAGTTAAGTAGAACAATGCCCTCATTTTGCAGATGGGGCCCTAGGTGACAAGGAGTAAAAGCTGCAAAGCCAACACCAGAACTTTGTCTCTTCTATTTTCTATTGCAGAGGAGTATTCAAAGCTGTTATCACATGAAGCTGTGGAAGCAGTTGCATTTCAGGAGGTCAGGAAGAAATGTCGATGTTTGCAAAGTTAGATAGTGCCTGAGACCGGAGGCCACCAGTATCTACAGATTCAAAATACTACAGGTTCAGGAAAATCATGCCCGATCCCCTAGCAAGGCCAGCCCTGAGGATGAGACAGTATGCCACGGTCCCACTGTGATCAGATTCCTGCTGCAGGACCTCTCCCCATTGGGGATCCTTCTGATCTGTTAGCATCCAGATGAGTGTTTCTGGACTCCAGCACTCTGGGGAGAGTCTGTGTGAAGGCTCCCACATCTGGCCTTCCCTTAGAGCAGGAGGATAAGGCCCTAAATTATAGGCACAACCTCAGAAGCTGGACTCTGATGAACATCTGGGGGGCATTGCGATGCCTGTTGCTAACAGAGAGGGAGGAACTATGCTCATGGAATTTGTGAATCGGCCAAATGTAGAGTCGTAGAGTTGTCCCTGTGTTTGCCTGCAGAGCATGGAGGGTTGTGGGGGCACCAGAAGGAGAACAGGCTCAGATCTTTCCGCTGGTCAATTCTATCACTAGCAGAGCAGACCTGGTTC
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Task1_train_17921
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This genomic variant is located on Chromosome 12, within the KRT74 (keratin 74) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal dominant wooly hair
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TCTCCTTTTGGTATCTCCCTGGAAGAGTCGGGAAGGAGGCAGGGTGAGGGTGGGGGGACAGGAGTGTCCTTACTGCATCATACAGACACTTGAGGAACTTGATTTCTTTGTCCAGTGAGTCCACTTTGGCCTGAAGCTCCACCTTGACTGCGTAGGCTGCATCTGCATCCTGCCAAGAGGCCCCAGAGTCATTGGGGGATGCAACCCTCATCCCACAGCTGCCCTGCCCAACTCCTGCCTCAAAGCCACCTGATTTTCTATTTTCTACCCACAAAGGAAAGCTCACTCAATATCAATTTCTTCTCAGGCTGCCTGAAGCTTTGGGAATAGGGAAAGGAGGATGGGGCAGCTCTGTTATGCCTGGAGAAAACAAAGCCCAGAGAGGTAGTAGGTTTCCTCAGGTCACACAGCAAGGTTGAGCTGGACCCGAGTTTCACAGTTCCCAGACCAGAATTCTGTCTGTCTCTGTCCATTTCCTGAGTGTGTGTCTTTCCTCTCCAACTCACTGGAGGCCAGGACTATGACTCCACCCTCACCAGGCACCAGCCCCCTCACCAGGCACCAGCCCCCTCCCCAGCCTCCTGGGCTGAAGTCCTGAGCAGAGTTGTTAAGATGGGGGTGCGAGAGACCCTAATAAGGAGGCTCCTCCCTCTCTTACCTTCTTAAGCACCACAAACTCATTCTCTGCTGTCGTGCGCCGGTTAATCTCCACTTCATATCTGCCAGCAGGGAGAGTAGATGGCCTTAGCCCCCTTAGCCAAGGAACTTTCTCTTCCTGCTGGCCAGGCAAATGTTTGGGATACAGGGTCCCTGCAGGGTCTCTGGGGTGAGCAGTAAGAGGCTAGTGACAGGAGTAAGATATCCCTGAGTTGCTTCACTTGTCTCCTAGTTTTTGCATGTTAGGAAAACACCCAGGTGCCTATTGGGCTCCCGACACCAGCAACTGAACATTTCAGTGGGTCAAGGAGCACAGGAACCGCTTCCTATCAACTAGGCAGGAAGTTATCATCAAAGAGGATAGGCCCTTCCCCCTAGCCAGAGAAAGGGATGTGAGCTCCTGACCCTGGTGCATACTCCCCCATCTCCTAAAAAATAATGGCACAGAGATCAGGTGAGCCCAGAGGCACGGGAAACATGGTCTGTGACCCTCGGGTGGAGCCTGCTCACCTCTTCTTATAGTCCTCCACCAGATCCCTCATGCTTCTCAGCTCCGAGTCCAGCCTCACCCTGTCCCCAGACAGTGTCTCCAGCTGCTTCCGCAGGTTGCTGATGTAGCCCTCAAGGATGGGCTCCAGGTTCTTCTTGCAGTTGTTCAGGTCCAGCTGCTGCAGCAGCTCCCACTTGGTTTCTAGAACCTGGTTCTGCTGCTCTAGGAAGCGTACCTGGAACCCAAATCAACAGACACCTGGAACCACAATGGGTGCAGTCATGCCCCCTGGACACACACCATTGACTCCCCAGGTTTGCCATAGATTGTTGTAGTCATTTTTGCTCATGTCTTGACTCTCCACCCTTGCCATTCCACACAAACTAGATCCTTTACAAGTGCTCATTTCCTAGCCTTCTGGACAAGGCATCACTGAGAACTCACTCAAGGAGTTTCCACAGCTTTCTTCTATTGCTCGGCCCTGGTCCCAGGAGATGTCCTTCCTTATGTCTCAACTAAGTGTCTCTTCCTGTACCATGAGCCCTTCCCTCTGAACACTGCTGGATTCTATTAGCCTTTCATGTTCTTGGAAGATCCAGCTGTCCTCAAGAAACTCATCACTTTTTTGTCAAGGAAGGGCTGCTCTTTACCCAGCTTCCCATCCTTCCCTGCAAAATCGCCAAAGAAGCCGATATATTCATGTATTCCTTTGTCCTCCGTGGCTCACAGACCTACTCTCCTTCCCTAATGGTGAGGAAGCCCTTCCTGAGGCCCAGCTGCACCTTTCCAGCCACAGTGTGCAGTCCATTCCCAGGCAGCAGGAAAACTGCTCAGGCCTCAGGGTGCGGCCTCATCCTCCTCCTATGAGACCCACCTTGTCAATGAAGGAGGCGAACTTGTCGTTCAGCACCTTGATCTGTTCCCGCTCCTGGGCGCGCACCTTCTGGATCTCAGGGTCCAGCTCCACGTTGAGGGGGGCCAAGAGGCTCTTGTTGACAGTGACCTGGTGGATGCCCCCAGGTGGGCACACAGACAAACATGCAGGCCCCAGGGCCACACTGCCAAACATACTGCCAGCAAAGCCACTGGCCCGGCCCCCTCCATACCCAGAGCCAGGCCTGAAGCCGTAACCTCCAGCCCGAACGCCGCCACCAGCCACATTGAAAGAAATACGCCGATTCCCTCCAAGGCTATAGAGGCTCCGACTGCCAAAGCCAGCGCCAGCCCCTCTGCCAGCTGCACAGTAAGAAGCCAGGCTACCCACAGCCTTCCTTGGCACCACTGCCGAATGCACACTGAAGTTGCCCTTGTCACCACTGGACTTGATGTTCAGTTGCCGACTCATGGTGGGAAAGGTTGAGTTGACAGAGCTGGAGAAAAGCAGTCTCCAAGGGGTAGAGAACACACTGATGGGGCACCCAGAGTGCTGCCTCCTTTTATCCCTGTTGAGCCCAGGACACCGGAAAAGGGCGTCTCTCCACTATCTCCTTTCCCCTGCTGATGGGCCAGGGGCCATGGGCAATTTGTAGAACAGAGATCTCCAAGCCCTTTGCAGCAACAAAGCTCTTCTGATAGCAAGTGGAATATGCTGCCCTTGCAGAGTGGAGTGGTCTAATTTGGAGTTTATCTGTGCTCCCTAATTAAGGACCTGAAGAGTTATCCCCTGAAGAGATCTCCTAGCTTTATTTTTCCAGTGCTACCTCCTTCTTGCTTAACCATCAGCAAGGAGCAGGGGAAATGCCTGGCTTTCCCCAGAGTAGACTCACCTGAAAAACCCCAGGTTTCTTCCCAAAAGAAACCATCTCTCTATTATAGGGTCTTGTGTGGAAGCTGGAATTTTTACCTCAGGGAAAAGAAGACATGGAAAGATGATTCTTCTTGGAAAGATGTCCTCAAAGATCTGGATCTGGGTAAGAAGCTCCAGGGTCCGTCCTTGGGCCATGCTAAGGACCACAGCTGTCTAGCAGTGAAGTGGACCCCAGGAAGGAAGAGGAATGACTCTGCAGCATCTGCATGCCCCCCTAGCAGGGATATTGTCTAGGGCCTTCTGTGTTGGGCAGGGCCTGGGTGGTGGTGACCTTGACATTGCCTTACAACCATGAGAACCTTTCCAGTCAGCTGCATTTCCTCCAGTTGGATTTTCTCTCCTGGATAAGATTATTTGTCCTACTCTAGGAAGTCAGGCAGGAGCTGGGATATTAGCCCCTGCACTCCCTGGGGAAACACCCTATGGCTGAAGTCACCAAGGAACAGGACCCCCTGAGTTTCACTCCCAGGTTCAGGGTGGGCTGTTCTGCCAGTTTCCTGGCAACTTCAGGGAGCACTCAATTTTCAAACAGGAAGTATCACTGCTTTATAGCTCAGGTAGTGTGGGTACAGTGCAATGTTAAAAAATTATTTCAGGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATTGCCTGAGGTCAGGAGTTTGAGTCCAGCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATCAGCCGAGCGCAGTGGTGCATGCCTGTAGTCGCAGCTACTCAAAAGACTGAAGTAGAAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCTAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAACAAAAAAAATTATTTCAAAGCTAGGTATCTGGCAGCTGCCCTCATGCAAGACTCTGACCACTTCCTATAACTAAACTGAGAACACTTGGCTTGTTTGGATCCAGCCGAGGGCAGAAGACAACTGCTCCCACTGCTGGGGAGGGAAAAGGAGAAGCTGACCTGGGCAGGGAGCGTGGAGCTTAGGCCTGGAAGCTGCCCCGGAAGAATTTCCCCTTCACAGGGTGTTTTCCTCTCAGCCCCTGAGGTAACGGTGGAAG
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TCTCCTTTTGGTATCTCCCTGGAAGAGTCGGGAAGGAGGCAGGGTGAGGGTGGGGGGACAGGAGTGTCCTTACTGCATCATACAGACACTTGAGGAACTTGATTTCTTTGTCCAGTGAGTCCACTTTGGCCTGAAGCTCCACCTTGACTGCGTAGGCTGCATCTGCATCCTGCCAAGAGGCCCCAGAGTCATTGGGGGATGCAACCCTCATCCCACAGCTGCCCTGCCCAACTCCTGCCTCAAAGCCACCTGATTTTCTATTTTCTACCCACAAAGGAAAGCTCACTCAATATCAATTTCTTCTCAGGCTGCCTGAAGCTTTGGGAATAGGGAAAGGAGGATGGGGCAGCTCTGTTATGCCTGGAGAAAACAAAGCCCAGAGAGGTAGTAGGTTTCCTCAGGTCACACAGCAAGGTTGAGCTGGACCCGAGTTTCACAGTTCCCAGACCAGAATTCTGTCTGTCTCTGTCCATTTCCTGAGTGTGTGTCTTTCCTCTCCAACTCACTGGAGGCCAGGACTATGACTCCACCCTCACCAGGCACCAGCCCCCTCACCAGGCACCAGCCCCCTCCCCAGCCTCCTGGGCTGAAGTCCTGAGCAGAGTTGTTAAGATGGGGGTGCGAGAGACCCTAATAAGGAGGCTCCTCCCTCTCTTACCTTCTTAAGCACCACAAACTCATTCTCTGCTGTCGTGCGCCGGTTAATCTCCACTTCATATCTGCCAGCAGGGAGAGTAGATGGCCTTAGCCCCCTTAGCCAAGGAACTTTCTCTTCCTGCTGGCCAGGCAAATGTTTGGGATACAGGGTCCCTGCAGGGTCTCTGGGGTGAGCAGTAAGAGGCTAGTGACAGGAGTAAGATATCCCTGAGTTGCTTCACTTGTCTCCTAGTTTTTGCATGTTAGGAAAACACCCAGGTGCCTATTGGGCTCCCGACACCAGCAACTGAACATTTCAGTGGGTCAAGGAGCACAGGAACCGCTTCCTATCAACTAGGCAGGAAGTTATCATCAAAGAGGATAGGCCCTTCCCCCTAGCCAGAGAAAGGGATGTGAGCTCCTGACCCTGGTGCATACTCCCCCATCTCCTAAAAAATAATGGCACAGAGATCAGGTGAGCCCAGAGGCACGGGAAACATGGTCTGTGACCCTCGGGTGGAGCCTGCTCACCTCTTCTTATAGTCCTCCACCAGATCCCTCATGCTTCTCAGCTCCGAGTCCAGCCTCACCCTGTCCCCAGACAGTGTCTCCAGCTGCTTCCGCAGGTTGCTGATGTAGCCCTCAAGGATGGGCTCCAGGTTCTTCTTGCAGTTGTTCAGGTCCAGCTGCTGCAGCAGCTCCCACTTGGTTTCTAGAACCTGGTTCTGCTGCTCTAGGAAGCGTACCTGGAACCCAAATCAACAGACACCTGGAACCACAATGGGTGCAGTCATGCCCCCTGGACACACACCATTGACTCCCCAGGTTTGCCATAGATTGTTGTAGTCATTTTTGCTCATGTCTTGACTCTCCACCCTTGCCATTCCACACAAACTAGATCCTTTACAAGTGCTCATTTCCTAGCCTTCTGGACAAGGCATCACTGAGAACTCACTCAAGGAGTTTCCACAGCTTTCTTCTATTGCTCGGCCCTGGTCCCAGGAGATGTCCTTCCTTATGTCTCAACTAAGTGTCTCTTCCTGTACCATGAGCCCTTCCCTCTGAACACTGCTGGATTCTATTAGCCTTTCATGTTCTTGGAAGATCCAGCTGTCCTCAAGAAACTCATCACTTTTTTGTCAAGGAAGGGCTGCTCTTTACCCAGCTTCCCATCCTTCCCTGCAAAATCGCCAAAGAAGCCGATATATTCATGTATTCCTTTGTCCTCCGTGGCTCACAGACCTACTCTCCTTCCCTAATGGTGAGGAAGCCCTTCCTGAGGCCCAGCTGCACCTTTCCAGCCACAGTGTGCAGTCCATTCCCAGGCAGCAGGAAAACTGCTCAGGCCTCAGGGTGCGGCCTCATCCTCCTCCTATGAGACCCACCTTGTCAATGAAGGAGGCGAACTTGTCCTTCAGCACCTTGATCTGTTCCCGCTCCTGGGCGCGCACCTTCTGGATCTCAGGGTCCAGCTCCACGTTGAGGGGGGCCAAGAGGCTCTTGTTGACAGTGACCTGGTGGATGCCCCCAGGTGGGCACACAGACAAACATGCAGGCCCCAGGGCCACACTGCCAAACATACTGCCAGCAAAGCCACTGGCCCGGCCCCCTCCATACCCAGAGCCAGGCCTGAAGCCGTAACCTCCAGCCCGAACGCCGCCACCAGCCACATTGAAAGAAATACGCCGATTCCCTCCAAGGCTATAGAGGCTCCGACTGCCAAAGCCAGCGCCAGCCCCTCTGCCAGCTGCACAGTAAGAAGCCAGGCTACCCACAGCCTTCCTTGGCACCACTGCCGAATGCACACTGAAGTTGCCCTTGTCACCACTGGACTTGATGTTCAGTTGCCGACTCATGGTGGGAAAGGTTGAGTTGACAGAGCTGGAGAAAAGCAGTCTCCAAGGGGTAGAGAACACACTGATGGGGCACCCAGAGTGCTGCCTCCTTTTATCCCTGTTGAGCCCAGGACACCGGAAAAGGGCGTCTCTCCACTATCTCCTTTCCCCTGCTGATGGGCCAGGGGCCATGGGCAATTTGTAGAACAGAGATCTCCAAGCCCTTTGCAGCAACAAAGCTCTTCTGATAGCAAGTGGAATATGCTGCCCTTGCAGAGTGGAGTGGTCTAATTTGGAGTTTATCTGTGCTCCCTAATTAAGGACCTGAAGAGTTATCCCCTGAAGAGATCTCCTAGCTTTATTTTTCCAGTGCTACCTCCTTCTTGCTTAACCATCAGCAAGGAGCAGGGGAAATGCCTGGCTTTCCCCAGAGTAGACTCACCTGAAAAACCCCAGGTTTCTTCCCAAAAGAAACCATCTCTCTATTATAGGGTCTTGTGTGGAAGCTGGAATTTTTACCTCAGGGAAAAGAAGACATGGAAAGATGATTCTTCTTGGAAAGATGTCCTCAAAGATCTGGATCTGGGTAAGAAGCTCCAGGGTCCGTCCTTGGGCCATGCTAAGGACCACAGCTGTCTAGCAGTGAAGTGGACCCCAGGAAGGAAGAGGAATGACTCTGCAGCATCTGCATGCCCCCCTAGCAGGGATATTGTCTAGGGCCTTCTGTGTTGGGCAGGGCCTGGGTGGTGGTGACCTTGACATTGCCTTACAACCATGAGAACCTTTCCAGTCAGCTGCATTTCCTCCAGTTGGATTTTCTCTCCTGGATAAGATTATTTGTCCTACTCTAGGAAGTCAGGCAGGAGCTGGGATATTAGCCCCTGCACTCCCTGGGGAAACACCCTATGGCTGAAGTCACCAAGGAACAGGACCCCCTGAGTTTCACTCCCAGGTTCAGGGTGGGCTGTTCTGCCAGTTTCCTGGCAACTTCAGGGAGCACTCAATTTTCAAACAGGAAGTATCACTGCTTTATAGCTCAGGTAGTGTGGGTACAGTGCAATGTTAAAAAATTATTTCAGGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATTGCCTGAGGTCAGGAGTTTGAGTCCAGCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAAATCAGCCGAGCGCAGTGGTGCATGCCTGTAGTCGCAGCTACTCAAAAGACTGAAGTAGAAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCTAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAACAAAAAAAATTATTTCAAAGCTAGGTATCTGGCAGCTGCCCTCATGCAAGACTCTGACCACTTCCTATAACTAAACTGAGAACACTTGGCTTGTTTGGATCCAGCCGAGGGCAGAAGACAACTGCTCCCACTGCTGGGGAGGGAAAAGGAGAAGCTGACCTGGGCAGGGAGCGTGGAGCTTAGGCCTGGAAGCTGCCCCGGAAGAATTTCCCCTTCACAGGGTGTTTTCCTCTCAGCCCCTGAGGTAACGGTGGAAG
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Task1_train_17922
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A variant on Chromosome 12 in gene KRT2 (keratin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Ichthyosis bullosa of Siemens
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GGTCCTCAACAGAATACACATCTGGAAAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGAACCAAAAGCTTCACCTGAGCTACCCTTTACAGAGCTAGAACCCCCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTTCCACCTCCAGAGCCATATCCTCCTCCAGAGATGGACCCTCCCTTAGAGCCACCACCAGATCCGTATCTTCCTCCAGAACCACCGCCAGAGCCATATCCTCCTCCAGAGATAGAACCTCCTCCTCCACTACCGCCTCTGGAGCCAGACTGTCGGCCTCCAGAGCCATAACTGCTGCTTCCAGAGCTGTATCCTCCTCCGGAACTGGACCCTCTACCTCCAGAACCTCCAAAGGCAGCCTTGGATGCCACATTTGATGAAATGGTGCTGCTTGTCACAGCTGCAGAGAGAGGTGGTGTTACCACAGAGATTATGACTGCCTCTCCCTGCCTCCACCTGACACAACACCCCATGGAACAGGACCACACCCCATTACTTACACACAGTCACATTGCTGCTGAGGTCTCCAGACATCCTGTAAGGGAGAGAGAAAAAACAAGTTGTGGTGGAACACTTAGGTTCTGTATGCATGTTGTTTTACCACTTCCACCCGCAAATGTGCAGTTTAGCCTCTCTAAGCAGCCACCAGGGCTTACACACCCCACTTTCTTCTATGCTGCCAGGTCACACAATGACGACAGACCCCCTTCCATTTATGCACAACCTTGCATGTCAATCCCTCTCAATTTTTGCTCTGATAAAAAATGAACAGTTGCGTGGTTGATCCAAGGTCACTGAAAAGCAAATTCACTTCCTACTTTGCAACCCATTTGTGTATTTAAATCCATCTTGGAGAGTCTGTTATTCAGAATCCATGCCACATCAGAAATTATACAATGAGGCTGCCTGTGAACATTCAGTTCAGAAAGAACTGTGACTCTGTAGAGCCTCCCCATTCCTCTCTTCTTCCCACCCTCTTCAGCTTCAACTGAAAACTTTCCCACTTCCTCTTACAAGCTGGGCATAGGAGGCATTGCCTCTAGACAGGGACAGAGCAACCTCCTGAAGAAAGCCACTCCCTGTTTGTCATGCTGGCTTGCTGATGGCCTGGGGTAGCTTTTCCCCTTCCAATTGCTTCAGCCAGATTAAGTCACCCAAGATGCTGATAATACGGACAAAGGTCTCAGACTACAGAGGAAGCAAAGGGTGCCTCTTTGAAAGTTAGCAAATGGTTCCATTTGTCACTCCAGAAACCTGCAAAGAACTGGGGCTGGCACCTGCTCCGGTCAGCACGTCCCCACCAGTCAGCACATTCCGAGACATCATCTCCCCCATTCTGGGTCACCCGGTGGAGGGCACAGAAGCCACTCACCCTATGGACCTAGAGACCAAAGTTTCAGACTGTCTAGGACTAACCTGTTTTCCCATGATTTTGTTTTCTCTTTCAGAAAAGACCAGGATGTTTAACTTACTGCTTAGTTTAATTTAATGTGCCTTATGCATCATTTCATGTTGATAAATGTGTAACTCTCCAATCATGCTTTATGTCCTGAGTTTCTGCTTGGGGAACACAGAGAATGTCAGTTCTCAGTTGTCAGGAGGGCCTGCCCCATTCTCTGCTTTCCCTGTCTTTGCCTCCAGCCCTGGCTCTGGGAGAGATGAGAGGAAGGGCCAGGGTCCCCTTCTCCCTTCCCAGTGCCCTCACCTGCACTCCTCGCCCTCCAGCAGTTTGCGGTAGGTGGCGATCTCCACATCTAGGGCCAGCTTCACGTTCATCAGCTCCTGGTAGTCACGCAGCAGCCGCGCCAAGTCCTCCTTGGCCTGCTGCAGGGCCTCCTCCAGGTCATTCAACTTGTTCCTGGCATCCTTGAGGGCATGCTCCCCACGCTGCTCGGCATCTGCGATGGCATCTTGCACATTCTTACACTATGACAGAAGGACAGAGAATGGATTCTGCCTGACGGAGGCGGACAGAGAGCAGAGGTGTTCGAAGTGCAGGAAGCCAGAACCACTGGCCCTGGGAGTGTTAGGTCCCCTCTGGAGTTTAGTCGCAAACAACTGTGCTAAGACTTGCCGCTGTCTCTGGCACATCTTCTTCCCATGTCACCGTTGATGACACCCTTTGGCTTTCCCCATAGTGCCCTTTGATCCTCACATCACAGGGCCTGAATCATGATCCCATTTTACAGATGGAAATGAAAACATTTGAAATGGTCTGCTTGGCAAAGCTTCTGCTGCTGATGGAATCCACTCTCTGCCTCTACCTTTTCTATTCCAAAGCTAACGTCCAGCCCCAGGCCAGCTGCCCTCAATACTCACTGCCCCTCTATGAAACCAGTCGGCTGGTGCTCAGGGCCTGTGCTGAGCACAAACGGGAAGCTCCATCGGCAATCTGCAGCAAATCAATCAAACTAACGTTTGCTCTATTTGTTATGACTCCCTTTTCCTCATATAAACAAGTGAGCACAATTCTTTCCCTTCGATAATCCTTACTTTGGAATGTCTATTAGAGCACTCTAAGAATTGTTATAATAAGCCATAAATTATGTTAAGCTGGGGAATTTGGGATCGATACATGCTAGAGTGCAATATCTCAGTGTCTCTCATCTCTCACATGCACACTCACACACAACCACACTCTCACGCACACCCAGAGACAACCTCCCGCCCCTCGCTGGACAGGGCTGGGCCTCACCTGCTTCTTCACATGTGCGATCTCCCCCTGCAGCCTCTGGATCACGCGGTTCAGCTCGCTGATCTCTATCTTGATCTCTTTCAGGCTGTCTCCATGTCTCCCGACAGTCACCTGGAGCTCCTCATACTGATATGGGGAGAAGAGGACAGTTTGCAAGGAAGTTCCAGCCTGGCTCACATTCCAGACTGACTGGAGTGAAGGAGAGCTGGTTACTGGTCCAGGGAGGGTCAACCCAGCTAAATGTCATGGCTGCATTCATGAGAGGTAGGGACTGTCTCACATGCCCAAAAGGACTTGGTGCCATTCTCAACATCCTTTCTTGGGAATGGTGCCCAACTACCATTAAACAAAAAACCAATAACCTTACTGTACACTTTCCAGCTGGGGGTGCAACCCAGCTCATGGCAGGGAGCTGTGGCTCTTCCTACATTCCCTCTACTTGCCTTGCTGTGGTACAGGGCCTCCGCTTCTTCCTTGCTCCTCTGGGCGATCTCCTCATACTGGGCCTTGACCTCGGCGATGATGCTATCCAAGTCCAGGTTGCGGCTGTTGTCCATGGAGAGGATGACGTTGGTGTCAGTGACACTCTGATGTATCTGGGATATCTCCTACAACACACAGGAAGGTCTGGTCATGACATCCTGCCATAGCTACAGGCAGACAGGAGGCCTCTGTCTCCCAGCATAAGGGAAACGCAGACCCTCAGACTAAGCATACACTAGGTGGGATGAAAATCATGTAACCGTCTACTCCTGGGCCTCTCCCAAGGTTGTCCTGAGAATTGTAGTGAGAGGCACCTGTATTTCTGAGCCTCCTAGTTAACATTCAGCACTTAAGCCAGTTATGGTAAGTGCCCCCAGACAGAAGCTTGTCCATGGCAAATACCTTAAATGGACTTCCTGTTTCAGAAATCATCTGTGCACCCTTGGGTTGGGGAGGGGGATAGGAGACAAATGCATTTTGACCTCTGAAGTACAGTAGGCACAGGAATGGGCACAGGGCTTGTCTCTTCCCCAGGGGAAATGGACATCTGGGGAATGGAGGGAGGGGAAGCTGTCCTGGTGTT
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GGTCCTCAACAGAATACACATCTGGAAAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGAACCAAAAGCTTCACCTGAGCTACCCTTTACAGAGCTAGAACCCCCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTTCCACCTCCAGAGCCATATCCTCCTCCAGAGATGGACCCTCCCTTAGAGCCACCACCAGATCCGTATCTTCCTCCAGAACCACCGCCAGAGCCATATCCTCCTCCAGAGATAGAACCTCCTCCTCCACTACCGCCTCTGGAGCCAGACTGTCGGCCTCCAGAGCCATAACTGCTGCTTCCAGAGCTGTATCCTCCTCCGGAACTGGACCCTCTACCTCCAGAACCTCCAAAGGCAGCCTTGGATGCCACATTTGATGAAATGGTGCTGCTTGTCACAGCTGCAGAGAGAGGTGGTGTTACCACAGAGATTATGACTGCCTCTCCCTGCCTCCACCTGACACAACACCCCATGGAACAGGACCACACCCCATTACTTACACACAGTCACATTGCTGCTGAGGTCTCCAGACATCCTGTAAGGGAGAGAGAAAAAACAAGTTGTGGTGGAACACTTAGGTTCTGTATGCATGTTGTTTTACCACTTCCACCCGCAAATGTGCAGTTTAGCCTCTCTAAGCAGCCACCAGGGCTTACACACCCCACTTTCTTCTATGCTGCCAGGTCACACAATGACGACAGACCCCCTTCCATTTATGCACAACCTTGCATGTCAATCCCTCTCAATTTTTGCTCTGATAAAAAATGAACAGTTGCGTGGTTGATCCAAGGTCACTGAAAAGCAAATTCACTTCCTACTTTGCAACCCATTTGTGTATTTAAATCCATCTTGGAGAGTCTGTTATTCAGAATCCATGCCACATCAGAAATTATACAATGAGGCTGCCTGTGAACATTCAGTTCAGAAAGAACTGTGACTCTGTAGAGCCTCCCCATTCCTCTCTTCTTCCCACCCTCTTCAGCTTCAACTGAAAACTTTCCCACTTCCTCTTACAAGCTGGGCATAGGAGGCATTGCCTCTAGACAGGGACAGAGCAACCTCCTGAAGAAAGCCACTCCCTGTTTGTCATGCTGGCTTGCTGATGGCCTGGGGTAGCTTTTCCCCTTCCAATTGCTTCAGCCAGATTAAGTCACCCAAGATGCTGATAATACGGACAAAGGTCTCAGACTACAGAGGAAGCAAAGGGTGCCTCTTTGAAAGTTAGCAAATGGTTCCATTTGTCACTCCAGAAACCTGCAAAGAACTGGGGCTGGCACCTGCTCCGGTCAGCACGTCCCCACCAGTCAGCACATTCCGAGACATCATCTCCCCCATTCTGGGTCACCCGGTGGAGGGCACAGAAGCCACTCACCCTATGGACCTAGAGACCAAAGTTTCAGACTGTCTAGGACTAACCTGTTTTCCCATGATTTTGTTTTCTCTTTCAGAAAAGACCAGGATGTTTAACTTACTGCTTAGTTTAATTTAATGTGCCTTATGCATCATTTCATGTTGATAAATGTGTAACTCTCCAATCATGCTTTATGTCCTGAGTTTCTGCTTGGGGAACACAGAGAATGTCAGTTCTCAGTTGTCAGGAGGGCCTGCCCCATTCTCTGCTTTCCCTGTCTTTGCCTCCAGCCCTGGCTCTGGGAGAGATGAGAGGAAGGGCCAGGGTCCCCTTCTCCCTTCCCAGTGCCCTCACCTGCACTCATCGCCCTCCAGCAGTTTGCGGTAGGTGGCGATCTCCACATCTAGGGCCAGCTTCACGTTCATCAGCTCCTGGTAGTCACGCAGCAGCCGCGCCAAGTCCTCCTTGGCCTGCTGCAGGGCCTCCTCCAGGTCATTCAACTTGTTCCTGGCATCCTTGAGGGCATGCTCCCCACGCTGCTCGGCATCTGCGATGGCATCTTGCACATTCTTACACTATGACAGAAGGACAGAGAATGGATTCTGCCTGACGGAGGCGGACAGAGAGCAGAGGTGTTCGAAGTGCAGGAAGCCAGAACCACTGGCCCTGGGAGTGTTAGGTCCCCTCTGGAGTTTAGTCGCAAACAACTGTGCTAAGACTTGCCGCTGTCTCTGGCACATCTTCTTCCCATGTCACCGTTGATGACACCCTTTGGCTTTCCCCATAGTGCCCTTTGATCCTCACATCACAGGGCCTGAATCATGATCCCATTTTACAGATGGAAATGAAAACATTTGAAATGGTCTGCTTGGCAAAGCTTCTGCTGCTGATGGAATCCACTCTCTGCCTCTACCTTTTCTATTCCAAAGCTAACGTCCAGCCCCAGGCCAGCTGCCCTCAATACTCACTGCCCCTCTATGAAACCAGTCGGCTGGTGCTCAGGGCCTGTGCTGAGCACAAACGGGAAGCTCCATCGGCAATCTGCAGCAAATCAATCAAACTAACGTTTGCTCTATTTGTTATGACTCCCTTTTCCTCATATAAACAAGTGAGCACAATTCTTTCCCTTCGATAATCCTTACTTTGGAATGTCTATTAGAGCACTCTAAGAATTGTTATAATAAGCCATAAATTATGTTAAGCTGGGGAATTTGGGATCGATACATGCTAGAGTGCAATATCTCAGTGTCTCTCATCTCTCACATGCACACTCACACACAACCACACTCTCACGCACACCCAGAGACAACCTCCCGCCCCTCGCTGGACAGGGCTGGGCCTCACCTGCTTCTTCACATGTGCGATCTCCCCCTGCAGCCTCTGGATCACGCGGTTCAGCTCGCTGATCTCTATCTTGATCTCTTTCAGGCTGTCTCCATGTCTCCCGACAGTCACCTGGAGCTCCTCATACTGATATGGGGAGAAGAGGACAGTTTGCAAGGAAGTTCCAGCCTGGCTCACATTCCAGACTGACTGGAGTGAAGGAGAGCTGGTTACTGGTCCAGGGAGGGTCAACCCAGCTAAATGTCATGGCTGCATTCATGAGAGGTAGGGACTGTCTCACATGCCCAAAAGGACTTGGTGCCATTCTCAACATCCTTTCTTGGGAATGGTGCCCAACTACCATTAAACAAAAAACCAATAACCTTACTGTACACTTTCCAGCTGGGGGTGCAACCCAGCTCATGGCAGGGAGCTGTGGCTCTTCCTACATTCCCTCTACTTGCCTTGCTGTGGTACAGGGCCTCCGCTTCTTCCTTGCTCCTCTGGGCGATCTCCTCATACTGGGCCTTGACCTCGGCGATGATGCTATCCAAGTCCAGGTTGCGGCTGTTGTCCATGGAGAGGATGACGTTGGTGTCAGTGACACTCTGATGTATCTGGGATATCTCCTACAACACACAGGAAGGTCTGGTCATGACATCCTGCCATAGCTACAGGCAGACAGGAGGCCTCTGTCTCCCAGCATAAGGGAAACGCAGACCCTCAGACTAAGCATACACTAGGTGGGATGAAAATCATGTAACCGTCTACTCCTGGGCCTCTCCCAAGGTTGTCCTGAGAATTGTAGTGAGAGGCACCTGTATTTCTGAGCCTCCTAGTTAACATTCAGCACTTAAGCCAGTTATGGTAAGTGCCCCCAGACAGAAGCTTGTCCATGGCAAATACCTTAAATGGACTTCCTGTTTCAGAAATCATCTGTGCACCCTTGGGTTGGGGAGGGGGATAGGAGACAAATGCATTTTGACCTCTGAAGTACAGTAGGCACAGGAATGGGCACAGGGCTTGTCTCTTCCCCAGGGGAAATGGACATCTGGGGAATGGAGGGAGGGGAAGCTGTCCTGGTGTT
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Task1_train_17923
|
This sequence variant lies in KRT2 (keratin 2) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Ichthyosis bullosa of Siemens
|
TCCTCAACAGAATACACATCTGGAAAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGAACCAAAAGCTTCACCTGAGCTACCCTTTACAGAGCTAGAACCCCCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTTCCACCTCCAGAGCCATATCCTCCTCCAGAGATGGACCCTCCCTTAGAGCCACCACCAGATCCGTATCTTCCTCCAGAACCACCGCCAGAGCCATATCCTCCTCCAGAGATAGAACCTCCTCCTCCACTACCGCCTCTGGAGCCAGACTGTCGGCCTCCAGAGCCATAACTGCTGCTTCCAGAGCTGTATCCTCCTCCGGAACTGGACCCTCTACCTCCAGAACCTCCAAAGGCAGCCTTGGATGCCACATTTGATGAAATGGTGCTGCTTGTCACAGCTGCAGAGAGAGGTGGTGTTACCACAGAGATTATGACTGCCTCTCCCTGCCTCCACCTGACACAACACCCCATGGAACAGGACCACACCCCATTACTTACACACAGTCACATTGCTGCTGAGGTCTCCAGACATCCTGTAAGGGAGAGAGAAAAAACAAGTTGTGGTGGAACACTTAGGTTCTGTATGCATGTTGTTTTACCACTTCCACCCGCAAATGTGCAGTTTAGCCTCTCTAAGCAGCCACCAGGGCTTACACACCCCACTTTCTTCTATGCTGCCAGGTCACACAATGACGACAGACCCCCTTCCATTTATGCACAACCTTGCATGTCAATCCCTCTCAATTTTTGCTCTGATAAAAAATGAACAGTTGCGTGGTTGATCCAAGGTCACTGAAAAGCAAATTCACTTCCTACTTTGCAACCCATTTGTGTATTTAAATCCATCTTGGAGAGTCTGTTATTCAGAATCCATGCCACATCAGAAATTATACAATGAGGCTGCCTGTGAACATTCAGTTCAGAAAGAACTGTGACTCTGTAGAGCCTCCCCATTCCTCTCTTCTTCCCACCCTCTTCAGCTTCAACTGAAAACTTTCCCACTTCCTCTTACAAGCTGGGCATAGGAGGCATTGCCTCTAGACAGGGACAGAGCAACCTCCTGAAGAAAGCCACTCCCTGTTTGTCATGCTGGCTTGCTGATGGCCTGGGGTAGCTTTTCCCCTTCCAATTGCTTCAGCCAGATTAAGTCACCCAAGATGCTGATAATACGGACAAAGGTCTCAGACTACAGAGGAAGCAAAGGGTGCCTCTTTGAAAGTTAGCAAATGGTTCCATTTGTCACTCCAGAAACCTGCAAAGAACTGGGGCTGGCACCTGCTCCGGTCAGCACGTCCCCACCAGTCAGCACATTCCGAGACATCATCTCCCCCATTCTGGGTCACCCGGTGGAGGGCACAGAAGCCACTCACCCTATGGACCTAGAGACCAAAGTTTCAGACTGTCTAGGACTAACCTGTTTTCCCATGATTTTGTTTTCTCTTTCAGAAAAGACCAGGATGTTTAACTTACTGCTTAGTTTAATTTAATGTGCCTTATGCATCATTTCATGTTGATAAATGTGTAACTCTCCAATCATGCTTTATGTCCTGAGTTTCTGCTTGGGGAACACAGAGAATGTCAGTTCTCAGTTGTCAGGAGGGCCTGCCCCATTCTCTGCTTTCCCTGTCTTTGCCTCCAGCCCTGGCTCTGGGAGAGATGAGAGGAAGGGCCAGGGTCCCCTTCTCCCTTCCCAGTGCCCTCACCTGCACTCCTCGCCCTCCAGCAGTTTGCGGTAGGTGGCGATCTCCACATCTAGGGCCAGCTTCACGTTCATCAGCTCCTGGTAGTCACGCAGCAGCCGCGCCAAGTCCTCCTTGGCCTGCTGCAGGGCCTCCTCCAGGTCATTCAACTTGTTCCTGGCATCCTTGAGGGCATGCTCCCCACGCTGCTCGGCATCTGCGATGGCATCTTGCACATTCTTACACTATGACAGAAGGACAGAGAATGGATTCTGCCTGACGGAGGCGGACAGAGAGCAGAGGTGTTCGAAGTGCAGGAAGCCAGAACCACTGGCCCTGGGAGTGTTAGGTCCCCTCTGGAGTTTAGTCGCAAACAACTGTGCTAAGACTTGCCGCTGTCTCTGGCACATCTTCTTCCCATGTCACCGTTGATGACACCCTTTGGCTTTCCCCATAGTGCCCTTTGATCCTCACATCACAGGGCCTGAATCATGATCCCATTTTACAGATGGAAATGAAAACATTTGAAATGGTCTGCTTGGCAAAGCTTCTGCTGCTGATGGAATCCACTCTCTGCCTCTACCTTTTCTATTCCAAAGCTAACGTCCAGCCCCAGGCCAGCTGCCCTCAATACTCACTGCCCCTCTATGAAACCAGTCGGCTGGTGCTCAGGGCCTGTGCTGAGCACAAACGGGAAGCTCCATCGGCAATCTGCAGCAAATCAATCAAACTAACGTTTGCTCTATTTGTTATGACTCCCTTTTCCTCATATAAACAAGTGAGCACAATTCTTTCCCTTCGATAATCCTTACTTTGGAATGTCTATTAGAGCACTCTAAGAATTGTTATAATAAGCCATAAATTATGTTAAGCTGGGGAATTTGGGATCGATACATGCTAGAGTGCAATATCTCAGTGTCTCTCATCTCTCACATGCACACTCACACACAACCACACTCTCACGCACACCCAGAGACAACCTCCCGCCCCTCGCTGGACAGGGCTGGGCCTCACCTGCTTCTTCACATGTGCGATCTCCCCCTGCAGCCTCTGGATCACGCGGTTCAGCTCGCTGATCTCTATCTTGATCTCTTTCAGGCTGTCTCCATGTCTCCCGACAGTCACCTGGAGCTCCTCATACTGATATGGGGAGAAGAGGACAGTTTGCAAGGAAGTTCCAGCCTGGCTCACATTCCAGACTGACTGGAGTGAAGGAGAGCTGGTTACTGGTCCAGGGAGGGTCAACCCAGCTAAATGTCATGGCTGCATTCATGAGAGGTAGGGACTGTCTCACATGCCCAAAAGGACTTGGTGCCATTCTCAACATCCTTTCTTGGGAATGGTGCCCAACTACCATTAAACAAAAAACCAATAACCTTACTGTACACTTTCCAGCTGGGGGTGCAACCCAGCTCATGGCAGGGAGCTGTGGCTCTTCCTACATTCCCTCTACTTGCCTTGCTGTGGTACAGGGCCTCCGCTTCTTCCTTGCTCCTCTGGGCGATCTCCTCATACTGGGCCTTGACCTCGGCGATGATGCTATCCAAGTCCAGGTTGCGGCTGTTGTCCATGGAGAGGATGACGTTGGTGTCAGTGACACTCTGATGTATCTGGGATATCTCCTACAACACACAGGAAGGTCTGGTCATGACATCCTGCCATAGCTACAGGCAGACAGGAGGCCTCTGTCTCCCAGCATAAGGGAAACGCAGACCCTCAGACTAAGCATACACTAGGTGGGATGAAAATCATGTAACCGTCTACTCCTGGGCCTCTCCCAAGGTTGTCCTGAGAATTGTAGTGAGAGGCACCTGTATTTCTGAGCCTCCTAGTTAACATTCAGCACTTAAGCCAGTTATGGTAAGTGCCCCCAGACAGAAGCTTGTCCATGGCAAATACCTTAAATGGACTTCCTGTTTCAGAAATCATCTGTGCACCCTTGGGTTGGGGAGGGGGATAGGAGACAAATGCATTTTGACCTCTGAAGTACAGTAGGCACAGGAATGGGCACAGGGCTTGTCTCTTCCCCAGGGGAAATGGACATCTGGGGAATGGAGGGAGGGGAAGCTGTCCTGGTGTTTC
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TCCTCAACAGAATACACATCTGGAAAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGAACCAAAAGCTTCACCTGAGCTACCCTTTACAGAGCTAGAACCCCCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTTCCACCTCCAGAGCCATATCCTCCTCCAGAGATGGACCCTCCCTTAGAGCCACCACCAGATCCGTATCTTCCTCCAGAACCACCGCCAGAGCCATATCCTCCTCCAGAGATAGAACCTCCTCCTCCACTACCGCCTCTGGAGCCAGACTGTCGGCCTCCAGAGCCATAACTGCTGCTTCCAGAGCTGTATCCTCCTCCGGAACTGGACCCTCTACCTCCAGAACCTCCAAAGGCAGCCTTGGATGCCACATTTGATGAAATGGTGCTGCTTGTCACAGCTGCAGAGAGAGGTGGTGTTACCACAGAGATTATGACTGCCTCTCCCTGCCTCCACCTGACACAACACCCCATGGAACAGGACCACACCCCATTACTTACACACAGTCACATTGCTGCTGAGGTCTCCAGACATCCTGTAAGGGAGAGAGAAAAAACAAGTTGTGGTGGAACACTTAGGTTCTGTATGCATGTTGTTTTACCACTTCCACCCGCAAATGTGCAGTTTAGCCTCTCTAAGCAGCCACCAGGGCTTACACACCCCACTTTCTTCTATGCTGCCAGGTCACACAATGACGACAGACCCCCTTCCATTTATGCACAACCTTGCATGTCAATCCCTCTCAATTTTTGCTCTGATAAAAAATGAACAGTTGCGTGGTTGATCCAAGGTCACTGAAAAGCAAATTCACTTCCTACTTTGCAACCCATTTGTGTATTTAAATCCATCTTGGAGAGTCTGTTATTCAGAATCCATGCCACATCAGAAATTATACAATGAGGCTGCCTGTGAACATTCAGTTCAGAAAGAACTGTGACTCTGTAGAGCCTCCCCATTCCTCTCTTCTTCCCACCCTCTTCAGCTTCAACTGAAAACTTTCCCACTTCCTCTTACAAGCTGGGCATAGGAGGCATTGCCTCTAGACAGGGACAGAGCAACCTCCTGAAGAAAGCCACTCCCTGTTTGTCATGCTGGCTTGCTGATGGCCTGGGGTAGCTTTTCCCCTTCCAATTGCTTCAGCCAGATTAAGTCACCCAAGATGCTGATAATACGGACAAAGGTCTCAGACTACAGAGGAAGCAAAGGGTGCCTCTTTGAAAGTTAGCAAATGGTTCCATTTGTCACTCCAGAAACCTGCAAAGAACTGGGGCTGGCACCTGCTCCGGTCAGCACGTCCCCACCAGTCAGCACATTCCGAGACATCATCTCCCCCATTCTGGGTCACCCGGTGGAGGGCACAGAAGCCACTCACCCTATGGACCTAGAGACCAAAGTTTCAGACTGTCTAGGACTAACCTGTTTTCCCATGATTTTGTTTTCTCTTTCAGAAAAGACCAGGATGTTTAACTTACTGCTTAGTTTAATTTAATGTGCCTTATGCATCATTTCATGTTGATAAATGTGTAACTCTCCAATCATGCTTTATGTCCTGAGTTTCTGCTTGGGGAACACAGAGAATGTCAGTTCTCAGTTGTCAGGAGGGCCTGCCCCATTCTCTGCTTTCCCTGTCTTTGCCTCCAGCCCTGGCTCTGGGAGAGATGAGAGGAAGGGCCAGGGTCCCCTTCTCCCTTCCCAGTGCCCTCACCTGCACTCCTTGCCCTCCAGCAGTTTGCGGTAGGTGGCGATCTCCACATCTAGGGCCAGCTTCACGTTCATCAGCTCCTGGTAGTCACGCAGCAGCCGCGCCAAGTCCTCCTTGGCCTGCTGCAGGGCCTCCTCCAGGTCATTCAACTTGTTCCTGGCATCCTTGAGGGCATGCTCCCCACGCTGCTCGGCATCTGCGATGGCATCTTGCACATTCTTACACTATGACAGAAGGACAGAGAATGGATTCTGCCTGACGGAGGCGGACAGAGAGCAGAGGTGTTCGAAGTGCAGGAAGCCAGAACCACTGGCCCTGGGAGTGTTAGGTCCCCTCTGGAGTTTAGTCGCAAACAACTGTGCTAAGACTTGCCGCTGTCTCTGGCACATCTTCTTCCCATGTCACCGTTGATGACACCCTTTGGCTTTCCCCATAGTGCCCTTTGATCCTCACATCACAGGGCCTGAATCATGATCCCATTTTACAGATGGAAATGAAAACATTTGAAATGGTCTGCTTGGCAAAGCTTCTGCTGCTGATGGAATCCACTCTCTGCCTCTACCTTTTCTATTCCAAAGCTAACGTCCAGCCCCAGGCCAGCTGCCCTCAATACTCACTGCCCCTCTATGAAACCAGTCGGCTGGTGCTCAGGGCCTGTGCTGAGCACAAACGGGAAGCTCCATCGGCAATCTGCAGCAAATCAATCAAACTAACGTTTGCTCTATTTGTTATGACTCCCTTTTCCTCATATAAACAAGTGAGCACAATTCTTTCCCTTCGATAATCCTTACTTTGGAATGTCTATTAGAGCACTCTAAGAATTGTTATAATAAGCCATAAATTATGTTAAGCTGGGGAATTTGGGATCGATACATGCTAGAGTGCAATATCTCAGTGTCTCTCATCTCTCACATGCACACTCACACACAACCACACTCTCACGCACACCCAGAGACAACCTCCCGCCCCTCGCTGGACAGGGCTGGGCCTCACCTGCTTCTTCACATGTGCGATCTCCCCCTGCAGCCTCTGGATCACGCGGTTCAGCTCGCTGATCTCTATCTTGATCTCTTTCAGGCTGTCTCCATGTCTCCCGACAGTCACCTGGAGCTCCTCATACTGATATGGGGAGAAGAGGACAGTTTGCAAGGAAGTTCCAGCCTGGCTCACATTCCAGACTGACTGGAGTGAAGGAGAGCTGGTTACTGGTCCAGGGAGGGTCAACCCAGCTAAATGTCATGGCTGCATTCATGAGAGGTAGGGACTGTCTCACATGCCCAAAAGGACTTGGTGCCATTCTCAACATCCTTTCTTGGGAATGGTGCCCAACTACCATTAAACAAAAAACCAATAACCTTACTGTACACTTTCCAGCTGGGGGTGCAACCCAGCTCATGGCAGGGAGCTGTGGCTCTTCCTACATTCCCTCTACTTGCCTTGCTGTGGTACAGGGCCTCCGCTTCTTCCTTGCTCCTCTGGGCGATCTCCTCATACTGGGCCTTGACCTCGGCGATGATGCTATCCAAGTCCAGGTTGCGGCTGTTGTCCATGGAGAGGATGACGTTGGTGTCAGTGACACTCTGATGTATCTGGGATATCTCCTACAACACACAGGAAGGTCTGGTCATGACATCCTGCCATAGCTACAGGCAGACAGGAGGCCTCTGTCTCCCAGCATAAGGGAAACGCAGACCCTCAGACTAAGCATACACTAGGTGGGATGAAAATCATGTAACCGTCTACTCCTGGGCCTCTCCCAAGGTTGTCCTGAGAATTGTAGTGAGAGGCACCTGTATTTCTGAGCCTCCTAGTTAACATTCAGCACTTAAGCCAGTTATGGTAAGTGCCCCCAGACAGAAGCTTGTCCATGGCAAATACCTTAAATGGACTTCCTGTTTCAGAAATCATCTGTGCACCCTTGGGTTGGGGAGGGGGATAGGAGACAAATGCATTTTGACCTCTGAAGTACAGTAGGCACAGGAATGGGCACAGGGCTTGTCTCTTCCCCAGGGGAAATGGACATCTGGGGAATGGAGGGAGGGGAAGCTGTCCTGGTGTTTC
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Task1_train_17924
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A mutation on Chromosome 12 affecting KRT2 (keratin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Ichthyosis bullosa of Siemens
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AAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGAACCAAAAGCTTCACCTGAGCTACCCTTTACAGAGCTAGAACCCCCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTTCCACCTCCAGAGCCATATCCTCCTCCAGAGATGGACCCTCCCTTAGAGCCACCACCAGATCCGTATCTTCCTCCAGAACCACCGCCAGAGCCATATCCTCCTCCAGAGATAGAACCTCCTCCTCCACTACCGCCTCTGGAGCCAGACTGTCGGCCTCCAGAGCCATAACTGCTGCTTCCAGAGCTGTATCCTCCTCCGGAACTGGACCCTCTACCTCCAGAACCTCCAAAGGCAGCCTTGGATGCCACATTTGATGAAATGGTGCTGCTTGTCACAGCTGCAGAGAGAGGTGGTGTTACCACAGAGATTATGACTGCCTCTCCCTGCCTCCACCTGACACAACACCCCATGGAACAGGACCACACCCCATTACTTACACACAGTCACATTGCTGCTGAGGTCTCCAGACATCCTGTAAGGGAGAGAGAAAAAACAAGTTGTGGTGGAACACTTAGGTTCTGTATGCATGTTGTTTTACCACTTCCACCCGCAAATGTGCAGTTTAGCCTCTCTAAGCAGCCACCAGGGCTTACACACCCCACTTTCTTCTATGCTGCCAGGTCACACAATGACGACAGACCCCCTTCCATTTATGCACAACCTTGCATGTCAATCCCTCTCAATTTTTGCTCTGATAAAAAATGAACAGTTGCGTGGTTGATCCAAGGTCACTGAAAAGCAAATTCACTTCCTACTTTGCAACCCATTTGTGTATTTAAATCCATCTTGGAGAGTCTGTTATTCAGAATCCATGCCACATCAGAAATTATACAATGAGGCTGCCTGTGAACATTCAGTTCAGAAAGAACTGTGACTCTGTAGAGCCTCCCCATTCCTCTCTTCTTCCCACCCTCTTCAGCTTCAACTGAAAACTTTCCCACTTCCTCTTACAAGCTGGGCATAGGAGGCATTGCCTCTAGACAGGGACAGAGCAACCTCCTGAAGAAAGCCACTCCCTGTTTGTCATGCTGGCTTGCTGATGGCCTGGGGTAGCTTTTCCCCTTCCAATTGCTTCAGCCAGATTAAGTCACCCAAGATGCTGATAATACGGACAAAGGTCTCAGACTACAGAGGAAGCAAAGGGTGCCTCTTTGAAAGTTAGCAAATGGTTCCATTTGTCACTCCAGAAACCTGCAAAGAACTGGGGCTGGCACCTGCTCCGGTCAGCACGTCCCCACCAGTCAGCACATTCCGAGACATCATCTCCCCCATTCTGGGTCACCCGGTGGAGGGCACAGAAGCCACTCACCCTATGGACCTAGAGACCAAAGTTTCAGACTGTCTAGGACTAACCTGTTTTCCCATGATTTTGTTTTCTCTTTCAGAAAAGACCAGGATGTTTAACTTACTGCTTAGTTTAATTTAATGTGCCTTATGCATCATTTCATGTTGATAAATGTGTAACTCTCCAATCATGCTTTATGTCCTGAGTTTCTGCTTGGGGAACACAGAGAATGTCAGTTCTCAGTTGTCAGGAGGGCCTGCCCCATTCTCTGCTTTCCCTGTCTTTGCCTCCAGCCCTGGCTCTGGGAGAGATGAGAGGAAGGGCCAGGGTCCCCTTCTCCCTTCCCAGTGCCCTCACCTGCACTCCTCGCCCTCCAGCAGTTTGCGGTAGGTGGCGATCTCCACATCTAGGGCCAGCTTCACGTTCATCAGCTCCTGGTAGTCACGCAGCAGCCGCGCCAAGTCCTCCTTGGCCTGCTGCAGGGCCTCCTCCAGGTCATTCAACTTGTTCCTGGCATCCTTGAGGGCATGCTCCCCACGCTGCTCGGCATCTGCGATGGCATCTTGCACATTCTTACACTATGACAGAAGGACAGAGAATGGATTCTGCCTGACGGAGGCGGACAGAGAGCAGAGGTGTTCGAAGTGCAGGAAGCCAGAACCACTGGCCCTGGGAGTGTTAGGTCCCCTCTGGAGTTTAGTCGCAAACAACTGTGCTAAGACTTGCCGCTGTCTCTGGCACATCTTCTTCCCATGTCACCGTTGATGACACCCTTTGGCTTTCCCCATAGTGCCCTTTGATCCTCACATCACAGGGCCTGAATCATGATCCCATTTTACAGATGGAAATGAAAACATTTGAAATGGTCTGCTTGGCAAAGCTTCTGCTGCTGATGGAATCCACTCTCTGCCTCTACCTTTTCTATTCCAAAGCTAACGTCCAGCCCCAGGCCAGCTGCCCTCAATACTCACTGCCCCTCTATGAAACCAGTCGGCTGGTGCTCAGGGCCTGTGCTGAGCACAAACGGGAAGCTCCATCGGCAATCTGCAGCAAATCAATCAAACTAACGTTTGCTCTATTTGTTATGACTCCCTTTTCCTCATATAAACAAGTGAGCACAATTCTTTCCCTTCGATAATCCTTACTTTGGAATGTCTATTAGAGCACTCTAAGAATTGTTATAATAAGCCATAAATTATGTTAAGCTGGGGAATTTGGGATCGATACATGCTAGAGTGCAATATCTCAGTGTCTCTCATCTCTCACATGCACACTCACACACAACCACACTCTCACGCACACCCAGAGACAACCTCCCGCCCCTCGCTGGACAGGGCTGGGCCTCACCTGCTTCTTCACATGTGCGATCTCCCCCTGCAGCCTCTGGATCACGCGGTTCAGCTCGCTGATCTCTATCTTGATCTCTTTCAGGCTGTCTCCATGTCTCCCGACAGTCACCTGGAGCTCCTCATACTGATATGGGGAGAAGAGGACAGTTTGCAAGGAAGTTCCAGCCTGGCTCACATTCCAGACTGACTGGAGTGAAGGAGAGCTGGTTACTGGTCCAGGGAGGGTCAACCCAGCTAAATGTCATGGCTGCATTCATGAGAGGTAGGGACTGTCTCACATGCCCAAAAGGACTTGGTGCCATTCTCAACATCCTTTCTTGGGAATGGTGCCCAACTACCATTAAACAAAAAACCAATAACCTTACTGTACACTTTCCAGCTGGGGGTGCAACCCAGCTCATGGCAGGGAGCTGTGGCTCTTCCTACATTCCCTCTACTTGCCTTGCTGTGGTACAGGGCCTCCGCTTCTTCCTTGCTCCTCTGGGCGATCTCCTCATACTGGGCCTTGACCTCGGCGATGATGCTATCCAAGTCCAGGTTGCGGCTGTTGTCCATGGAGAGGATGACGTTGGTGTCAGTGACACTCTGATGTATCTGGGATATCTCCTACAACACACAGGAAGGTCTGGTCATGACATCCTGCCATAGCTACAGGCAGACAGGAGGCCTCTGTCTCCCAGCATAAGGGAAACGCAGACCCTCAGACTAAGCATACACTAGGTGGGATGAAAATCATGTAACCGTCTACTCCTGGGCCTCTCCCAAGGTTGTCCTGAGAATTGTAGTGAGAGGCACCTGTATTTCTGAGCCTCCTAGTTAACATTCAGCACTTAAGCCAGTTATGGTAAGTGCCCCCAGACAGAAGCTTGTCCATGGCAAATACCTTAAATGGACTTCCTGTTTCAGAAATCATCTGTGCACCCTTGGGTTGGGGAGGGGGATAGGAGACAAATGCATTTTGACCTCTGAAGTACAGTAGGCACAGGAATGGGCACAGGGCTTGTCTCTTCCCCAGGGGAAATGGACATCTGGGGAATGGAGGGAGGGGAAGCTGTCCTGGTGTTTCCTGAACCTTATTCCCATAACATCG
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AAATGGGCAATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGAACCAAAAGCTTCACCTGAGCTACCCTTTACAGAGCTAGAACCCCCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTTCCACCTCCAGAGCCATATCCTCCTCCAGAGATGGACCCTCCCTTAGAGCCACCACCAGATCCGTATCTTCCTCCAGAACCACCGCCAGAGCCATATCCTCCTCCAGAGATAGAACCTCCTCCTCCACTACCGCCTCTGGAGCCAGACTGTCGGCCTCCAGAGCCATAACTGCTGCTTCCAGAGCTGTATCCTCCTCCGGAACTGGACCCTCTACCTCCAGAACCTCCAAAGGCAGCCTTGGATGCCACATTTGATGAAATGGTGCTGCTTGTCACAGCTGCAGAGAGAGGTGGTGTTACCACAGAGATTATGACTGCCTCTCCCTGCCTCCACCTGACACAACACCCCATGGAACAGGACCACACCCCATTACTTACACACAGTCACATTGCTGCTGAGGTCTCCAGACATCCTGTAAGGGAGAGAGAAAAAACAAGTTGTGGTGGAACACTTAGGTTCTGTATGCATGTTGTTTTACCACTTCCACCCGCAAATGTGCAGTTTAGCCTCTCTAAGCAGCCACCAGGGCTTACACACCCCACTTTCTTCTATGCTGCCAGGTCACACAATGACGACAGACCCCCTTCCATTTATGCACAACCTTGCATGTCAATCCCTCTCAATTTTTGCTCTGATAAAAAATGAACAGTTGCGTGGTTGATCCAAGGTCACTGAAAAGCAAATTCACTTCCTACTTTGCAACCCATTTGTGTATTTAAATCCATCTTGGAGAGTCTGTTATTCAGAATCCATGCCACATCAGAAATTATACAATGAGGCTGCCTGTGAACATTCAGTTCAGAAAGAACTGTGACTCTGTAGAGCCTCCCCATTCCTCTCTTCTTCCCACCCTCTTCAGCTTCAACTGAAAACTTTCCCACTTCCTCTTACAAGCTGGGCATAGGAGGCATTGCCTCTAGACAGGGACAGAGCAACCTCCTGAAGAAAGCCACTCCCTGTTTGTCATGCTGGCTTGCTGATGGCCTGGGGTAGCTTTTCCCCTTCCAATTGCTTCAGCCAGATTAAGTCACCCAAGATGCTGATAATACGGACAAAGGTCTCAGACTACAGAGGAAGCAAAGGGTGCCTCTTTGAAAGTTAGCAAATGGTTCCATTTGTCACTCCAGAAACCTGCAAAGAACTGGGGCTGGCACCTGCTCCGGTCAGCACGTCCCCACCAGTCAGCACATTCCGAGACATCATCTCCCCCATTCTGGGTCACCCGGTGGAGGGCACAGAAGCCACTCACCCTATGGACCTAGAGACCAAAGTTTCAGACTGTCTAGGACTAACCTGTTTTCCCATGATTTTGTTTTCTCTTTCAGAAAAGACCAGGATGTTTAACTTACTGCTTAGTTTAATTTAATGTGCCTTATGCATCATTTCATGTTGATAAATGTGTAACTCTCCAATCATGCTTTATGTCCTGAGTTTCTGCTTGGGGAACACAGAGAATGTCAGTTCTCAGTTGTCAGGAGGGCCTGCCCCATTCTCTGCTTTCCCTGTCTTTGCCTCCAGCCCTGGCTCTGGGAGAGATGAGAGGAAGGGCCAGGGTCCCCTTCTCCCTTCCCAGTGCCCTCACCTGCACTCCTCGCCCTCCAGCAGTTTGCGGTAGGGGGCGATCTCCACATCTAGGGCCAGCTTCACGTTCATCAGCTCCTGGTAGTCACGCAGCAGCCGCGCCAAGTCCTCCTTGGCCTGCTGCAGGGCCTCCTCCAGGTCATTCAACTTGTTCCTGGCATCCTTGAGGGCATGCTCCCCACGCTGCTCGGCATCTGCGATGGCATCTTGCACATTCTTACACTATGACAGAAGGACAGAGAATGGATTCTGCCTGACGGAGGCGGACAGAGAGCAGAGGTGTTCGAAGTGCAGGAAGCCAGAACCACTGGCCCTGGGAGTGTTAGGTCCCCTCTGGAGTTTAGTCGCAAACAACTGTGCTAAGACTTGCCGCTGTCTCTGGCACATCTTCTTCCCATGTCACCGTTGATGACACCCTTTGGCTTTCCCCATAGTGCCCTTTGATCCTCACATCACAGGGCCTGAATCATGATCCCATTTTACAGATGGAAATGAAAACATTTGAAATGGTCTGCTTGGCAAAGCTTCTGCTGCTGATGGAATCCACTCTCTGCCTCTACCTTTTCTATTCCAAAGCTAACGTCCAGCCCCAGGCCAGCTGCCCTCAATACTCACTGCCCCTCTATGAAACCAGTCGGCTGGTGCTCAGGGCCTGTGCTGAGCACAAACGGGAAGCTCCATCGGCAATCTGCAGCAAATCAATCAAACTAACGTTTGCTCTATTTGTTATGACTCCCTTTTCCTCATATAAACAAGTGAGCACAATTCTTTCCCTTCGATAATCCTTACTTTGGAATGTCTATTAGAGCACTCTAAGAATTGTTATAATAAGCCATAAATTATGTTAAGCTGGGGAATTTGGGATCGATACATGCTAGAGTGCAATATCTCAGTGTCTCTCATCTCTCACATGCACACTCACACACAACCACACTCTCACGCACACCCAGAGACAACCTCCCGCCCCTCGCTGGACAGGGCTGGGCCTCACCTGCTTCTTCACATGTGCGATCTCCCCCTGCAGCCTCTGGATCACGCGGTTCAGCTCGCTGATCTCTATCTTGATCTCTTTCAGGCTGTCTCCATGTCTCCCGACAGTCACCTGGAGCTCCTCATACTGATATGGGGAGAAGAGGACAGTTTGCAAGGAAGTTCCAGCCTGGCTCACATTCCAGACTGACTGGAGTGAAGGAGAGCTGGTTACTGGTCCAGGGAGGGTCAACCCAGCTAAATGTCATGGCTGCATTCATGAGAGGTAGGGACTGTCTCACATGCCCAAAAGGACTTGGTGCCATTCTCAACATCCTTTCTTGGGAATGGTGCCCAACTACCATTAAACAAAAAACCAATAACCTTACTGTACACTTTCCAGCTGGGGGTGCAACCCAGCTCATGGCAGGGAGCTGTGGCTCTTCCTACATTCCCTCTACTTGCCTTGCTGTGGTACAGGGCCTCCGCTTCTTCCTTGCTCCTCTGGGCGATCTCCTCATACTGGGCCTTGACCTCGGCGATGATGCTATCCAAGTCCAGGTTGCGGCTGTTGTCCATGGAGAGGATGACGTTGGTGTCAGTGACACTCTGATGTATCTGGGATATCTCCTACAACACACAGGAAGGTCTGGTCATGACATCCTGCCATAGCTACAGGCAGACAGGAGGCCTCTGTCTCCCAGCATAAGGGAAACGCAGACCCTCAGACTAAGCATACACTAGGTGGGATGAAAATCATGTAACCGTCTACTCCTGGGCCTCTCCCAAGGTTGTCCTGAGAATTGTAGTGAGAGGCACCTGTATTTCTGAGCCTCCTAGTTAACATTCAGCACTTAAGCCAGTTATGGTAAGTGCCCCCAGACAGAAGCTTGTCCATGGCAAATACCTTAAATGGACTTCCTGTTTCAGAAATCATCTGTGCACCCTTGGGTTGGGGAGGGGGATAGGAGACAAATGCATTTTGACCTCTGAAGTACAGTAGGCACAGGAATGGGCACAGGGCTTGTCTCTTCCCCAGGGGAAATGGACATCTGGGGAATGGAGGGAGGGGAAGCTGTCCTGGTGTTTCCTGAACCTTATTCCCATAACATCG
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Task1_train_17925
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Given a variant located on Chromosome 12 and affecting KRT2 (keratin 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Ichthyosis bullosa of Siemens
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ATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGAACCAAAAGCTTCACCTGAGCTACCCTTTACAGAGCTAGAACCCCCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTTCCACCTCCAGAGCCATATCCTCCTCCAGAGATGGACCCTCCCTTAGAGCCACCACCAGATCCGTATCTTCCTCCAGAACCACCGCCAGAGCCATATCCTCCTCCAGAGATAGAACCTCCTCCTCCACTACCGCCTCTGGAGCCAGACTGTCGGCCTCCAGAGCCATAACTGCTGCTTCCAGAGCTGTATCCTCCTCCGGAACTGGACCCTCTACCTCCAGAACCTCCAAAGGCAGCCTTGGATGCCACATTTGATGAAATGGTGCTGCTTGTCACAGCTGCAGAGAGAGGTGGTGTTACCACAGAGATTATGACTGCCTCTCCCTGCCTCCACCTGACACAACACCCCATGGAACAGGACCACACCCCATTACTTACACACAGTCACATTGCTGCTGAGGTCTCCAGACATCCTGTAAGGGAGAGAGAAAAAACAAGTTGTGGTGGAACACTTAGGTTCTGTATGCATGTTGTTTTACCACTTCCACCCGCAAATGTGCAGTTTAGCCTCTCTAAGCAGCCACCAGGGCTTACACACCCCACTTTCTTCTATGCTGCCAGGTCACACAATGACGACAGACCCCCTTCCATTTATGCACAACCTTGCATGTCAATCCCTCTCAATTTTTGCTCTGATAAAAAATGAACAGTTGCGTGGTTGATCCAAGGTCACTGAAAAGCAAATTCACTTCCTACTTTGCAACCCATTTGTGTATTTAAATCCATCTTGGAGAGTCTGTTATTCAGAATCCATGCCACATCAGAAATTATACAATGAGGCTGCCTGTGAACATTCAGTTCAGAAAGAACTGTGACTCTGTAGAGCCTCCCCATTCCTCTCTTCTTCCCACCCTCTTCAGCTTCAACTGAAAACTTTCCCACTTCCTCTTACAAGCTGGGCATAGGAGGCATTGCCTCTAGACAGGGACAGAGCAACCTCCTGAAGAAAGCCACTCCCTGTTTGTCATGCTGGCTTGCTGATGGCCTGGGGTAGCTTTTCCCCTTCCAATTGCTTCAGCCAGATTAAGTCACCCAAGATGCTGATAATACGGACAAAGGTCTCAGACTACAGAGGAAGCAAAGGGTGCCTCTTTGAAAGTTAGCAAATGGTTCCATTTGTCACTCCAGAAACCTGCAAAGAACTGGGGCTGGCACCTGCTCCGGTCAGCACGTCCCCACCAGTCAGCACATTCCGAGACATCATCTCCCCCATTCTGGGTCACCCGGTGGAGGGCACAGAAGCCACTCACCCTATGGACCTAGAGACCAAAGTTTCAGACTGTCTAGGACTAACCTGTTTTCCCATGATTTTGTTTTCTCTTTCAGAAAAGACCAGGATGTTTAACTTACTGCTTAGTTTAATTTAATGTGCCTTATGCATCATTTCATGTTGATAAATGTGTAACTCTCCAATCATGCTTTATGTCCTGAGTTTCTGCTTGGGGAACACAGAGAATGTCAGTTCTCAGTTGTCAGGAGGGCCTGCCCCATTCTCTGCTTTCCCTGTCTTTGCCTCCAGCCCTGGCTCTGGGAGAGATGAGAGGAAGGGCCAGGGTCCCCTTCTCCCTTCCCAGTGCCCTCACCTGCACTCCTCGCCCTCCAGCAGTTTGCGGTAGGTGGCGATCTCCACATCTAGGGCCAGCTTCACGTTCATCAGCTCCTGGTAGTCACGCAGCAGCCGCGCCAAGTCCTCCTTGGCCTGCTGCAGGGCCTCCTCCAGGTCATTCAACTTGTTCCTGGCATCCTTGAGGGCATGCTCCCCACGCTGCTCGGCATCTGCGATGGCATCTTGCACATTCTTACACTATGACAGAAGGACAGAGAATGGATTCTGCCTGACGGAGGCGGACAGAGAGCAGAGGTGTTCGAAGTGCAGGAAGCCAGAACCACTGGCCCTGGGAGTGTTAGGTCCCCTCTGGAGTTTAGTCGCAAACAACTGTGCTAAGACTTGCCGCTGTCTCTGGCACATCTTCTTCCCATGTCACCGTTGATGACACCCTTTGGCTTTCCCCATAGTGCCCTTTGATCCTCACATCACAGGGCCTGAATCATGATCCCATTTTACAGATGGAAATGAAAACATTTGAAATGGTCTGCTTGGCAAAGCTTCTGCTGCTGATGGAATCCACTCTCTGCCTCTACCTTTTCTATTCCAAAGCTAACGTCCAGCCCCAGGCCAGCTGCCCTCAATACTCACTGCCCCTCTATGAAACCAGTCGGCTGGTGCTCAGGGCCTGTGCTGAGCACAAACGGGAAGCTCCATCGGCAATCTGCAGCAAATCAATCAAACTAACGTTTGCTCTATTTGTTATGACTCCCTTTTCCTCATATAAACAAGTGAGCACAATTCTTTCCCTTCGATAATCCTTACTTTGGAATGTCTATTAGAGCACTCTAAGAATTGTTATAATAAGCCATAAATTATGTTAAGCTGGGGAATTTGGGATCGATACATGCTAGAGTGCAATATCTCAGTGTCTCTCATCTCTCACATGCACACTCACACACAACCACACTCTCACGCACACCCAGAGACAACCTCCCGCCCCTCGCTGGACAGGGCTGGGCCTCACCTGCTTCTTCACATGTGCGATCTCCCCCTGCAGCCTCTGGATCACGCGGTTCAGCTCGCTGATCTCTATCTTGATCTCTTTCAGGCTGTCTCCATGTCTCCCGACAGTCACCTGGAGCTCCTCATACTGATATGGGGAGAAGAGGACAGTTTGCAAGGAAGTTCCAGCCTGGCTCACATTCCAGACTGACTGGAGTGAAGGAGAGCTGGTTACTGGTCCAGGGAGGGTCAACCCAGCTAAATGTCATGGCTGCATTCATGAGAGGTAGGGACTGTCTCACATGCCCAAAAGGACTTGGTGCCATTCTCAACATCCTTTCTTGGGAATGGTGCCCAACTACCATTAAACAAAAAACCAATAACCTTACTGTACACTTTCCAGCTGGGGGTGCAACCCAGCTCATGGCAGGGAGCTGTGGCTCTTCCTACATTCCCTCTACTTGCCTTGCTGTGGTACAGGGCCTCCGCTTCTTCCTTGCTCCTCTGGGCGATCTCCTCATACTGGGCCTTGACCTCGGCGATGATGCTATCCAAGTCCAGGTTGCGGCTGTTGTCCATGGAGAGGATGACGTTGGTGTCAGTGACACTCTGATGTATCTGGGATATCTCCTACAACACACAGGAAGGTCTGGTCATGACATCCTGCCATAGCTACAGGCAGACAGGAGGCCTCTGTCTCCCAGCATAAGGGAAACGCAGACCCTCAGACTAAGCATACACTAGGTGGGATGAAAATCATGTAACCGTCTACTCCTGGGCCTCTCCCAAGGTTGTCCTGAGAATTGTAGTGAGAGGCACCTGTATTTCTGAGCCTCCTAGTTAACATTCAGCACTTAAGCCAGTTATGGTAAGTGCCCCCAGACAGAAGCTTGTCCATGGCAAATACCTTAAATGGACTTCCTGTTTCAGAAATCATCTGTGCACCCTTGGGTTGGGGAGGGGGATAGGAGACAAATGCATTTTGACCTCTGAAGTACAGTAGGCACAGGAATGGGCACAGGGCTTGTCTCTTCCCCAGGGGAAATGGACATCTGGGGAATGGAGGGAGGGGAAGCTGTCCTGGTGTTTCCTGAACCTTATTCCCATAACATCGGAGGAGAAA
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ATGCAAAGAGGCATGGTGGGGGCGGGAATGGGCATGGCTAGAAGCACAAACCTAGACAGCACAGATTCCGCCCCAGAACACAGAGGCGTCACTGGCTCTAACTAACTGGTTTGGAGAGAAGATCTTTCAAAAACTGTATGTGGACATTCTTTTCCCTCAAAGTGCCATCAGAGATAAATGACAAAAATTTAACTTGCTGCCAGTTAGAGGTACAGAGACAGGCTTCTACATTCTGGAGTGGGAGAGTCTGGGTTGGGAGAGTCGGTGGTGGTGGGGGCTCATCTTTATCTAAAAGAGAAGGTCACGCTGGAACCAAAAGCTTCACCTGAGCTACCCTTTACAGAGCTAGAACCCCCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTTCCACCTCCAGAGCCATATCCTCCTCCAGAGATGGACCCTCCCTTAGAGCCACCACCAGATCCGTATCTTCCTCCAGAACCACCGCCAGAGCCATATCCTCCTCCAGAGATAGAACCTCCTCCTCCACTACCGCCTCTGGAGCCAGACTGTCGGCCTCCAGAGCCATAACTGCTGCTTCCAGAGCTGTATCCTCCTCCGGAACTGGACCCTCTACCTCCAGAACCTCCAAAGGCAGCCTTGGATGCCACATTTGATGAAATGGTGCTGCTTGTCACAGCTGCAGAGAGAGGTGGTGTTACCACAGAGATTATGACTGCCTCTCCCTGCCTCCACCTGACACAACACCCCATGGAACAGGACCACACCCCATTACTTACACACAGTCACATTGCTGCTGAGGTCTCCAGACATCCTGTAAGGGAGAGAGAAAAAACAAGTTGTGGTGGAACACTTAGGTTCTGTATGCATGTTGTTTTACCACTTCCACCCGCAAATGTGCAGTTTAGCCTCTCTAAGCAGCCACCAGGGCTTACACACCCCACTTTCTTCTATGCTGCCAGGTCACACAATGACGACAGACCCCCTTCCATTTATGCACAACCTTGCATGTCAATCCCTCTCAATTTTTGCTCTGATAAAAAATGAACAGTTGCGTGGTTGATCCAAGGTCACTGAAAAGCAAATTCACTTCCTACTTTGCAACCCATTTGTGTATTTAAATCCATCTTGGAGAGTCTGTTATTCAGAATCCATGCCACATCAGAAATTATACAATGAGGCTGCCTGTGAACATTCAGTTCAGAAAGAACTGTGACTCTGTAGAGCCTCCCCATTCCTCTCTTCTTCCCACCCTCTTCAGCTTCAACTGAAAACTTTCCCACTTCCTCTTACAAGCTGGGCATAGGAGGCATTGCCTCTAGACAGGGACAGAGCAACCTCCTGAAGAAAGCCACTCCCTGTTTGTCATGCTGGCTTGCTGATGGCCTGGGGTAGCTTTTCCCCTTCCAATTGCTTCAGCCAGATTAAGTCACCCAAGATGCTGATAATACGGACAAAGGTCTCAGACTACAGAGGAAGCAAAGGGTGCCTCTTTGAAAGTTAGCAAATGGTTCCATTTGTCACTCCAGAAACCTGCAAAGAACTGGGGCTGGCACCTGCTCCGGTCAGCACGTCCCCACCAGTCAGCACATTCCGAGACATCATCTCCCCCATTCTGGGTCACCCGGTGGAGGGCACAGAAGCCACTCACCCTATGGACCTAGAGACCAAAGTTTCAGACTGTCTAGGACTAACCTGTTTTCCCATGATTTTGTTTTCTCTTTCAGAAAAGACCAGGATGTTTAACTTACTGCTTAGTTTAATTTAATGTGCCTTATGCATCATTTCATGTTGATAAATGTGTAACTCTCCAATCATGCTTTATGTCCTGAGTTTCTGCTTGGGGAACACAGAGAATGTCAGTTCTCAGTTGTCAGGAGGGCCTGCCCCATTCTCTGCTTTCCCTGTCTTTGCCTCCAGCCCTGGCTCTGGGAGAGATGAGAGGAAGGGCCAGGGTCCCCTTCTCCCTTCCCAGTGCCCTCACCTGCACTCCTCGCCCTCCAGCAGTTTGCGGTAGGTGGCGATCTTCACATCTAGGGCCAGCTTCACGTTCATCAGCTCCTGGTAGTCACGCAGCAGCCGCGCCAAGTCCTCCTTGGCCTGCTGCAGGGCCTCCTCCAGGTCATTCAACTTGTTCCTGGCATCCTTGAGGGCATGCTCCCCACGCTGCTCGGCATCTGCGATGGCATCTTGCACATTCTTACACTATGACAGAAGGACAGAGAATGGATTCTGCCTGACGGAGGCGGACAGAGAGCAGAGGTGTTCGAAGTGCAGGAAGCCAGAACCACTGGCCCTGGGAGTGTTAGGTCCCCTCTGGAGTTTAGTCGCAAACAACTGTGCTAAGACTTGCCGCTGTCTCTGGCACATCTTCTTCCCATGTCACCGTTGATGACACCCTTTGGCTTTCCCCATAGTGCCCTTTGATCCTCACATCACAGGGCCTGAATCATGATCCCATTTTACAGATGGAAATGAAAACATTTGAAATGGTCTGCTTGGCAAAGCTTCTGCTGCTGATGGAATCCACTCTCTGCCTCTACCTTTTCTATTCCAAAGCTAACGTCCAGCCCCAGGCCAGCTGCCCTCAATACTCACTGCCCCTCTATGAAACCAGTCGGCTGGTGCTCAGGGCCTGTGCTGAGCACAAACGGGAAGCTCCATCGGCAATCTGCAGCAAATCAATCAAACTAACGTTTGCTCTATTTGTTATGACTCCCTTTTCCTCATATAAACAAGTGAGCACAATTCTTTCCCTTCGATAATCCTTACTTTGGAATGTCTATTAGAGCACTCTAAGAATTGTTATAATAAGCCATAAATTATGTTAAGCTGGGGAATTTGGGATCGATACATGCTAGAGTGCAATATCTCAGTGTCTCTCATCTCTCACATGCACACTCACACACAACCACACTCTCACGCACACCCAGAGACAACCTCCCGCCCCTCGCTGGACAGGGCTGGGCCTCACCTGCTTCTTCACATGTGCGATCTCCCCCTGCAGCCTCTGGATCACGCGGTTCAGCTCGCTGATCTCTATCTTGATCTCTTTCAGGCTGTCTCCATGTCTCCCGACAGTCACCTGGAGCTCCTCATACTGATATGGGGAGAAGAGGACAGTTTGCAAGGAAGTTCCAGCCTGGCTCACATTCCAGACTGACTGGAGTGAAGGAGAGCTGGTTACTGGTCCAGGGAGGGTCAACCCAGCTAAATGTCATGGCTGCATTCATGAGAGGTAGGGACTGTCTCACATGCCCAAAAGGACTTGGTGCCATTCTCAACATCCTTTCTTGGGAATGGTGCCCAACTACCATTAAACAAAAAACCAATAACCTTACTGTACACTTTCCAGCTGGGGGTGCAACCCAGCTCATGGCAGGGAGCTGTGGCTCTTCCTACATTCCCTCTACTTGCCTTGCTGTGGTACAGGGCCTCCGCTTCTTCCTTGCTCCTCTGGGCGATCTCCTCATACTGGGCCTTGACCTCGGCGATGATGCTATCCAAGTCCAGGTTGCGGCTGTTGTCCATGGAGAGGATGACGTTGGTGTCAGTGACACTCTGATGTATCTGGGATATCTCCTACAACACACAGGAAGGTCTGGTCATGACATCCTGCCATAGCTACAGGCAGACAGGAGGCCTCTGTCTCCCAGCATAAGGGAAACGCAGACCCTCAGACTAAGCATACACTAGGTGGGATGAAAATCATGTAACCGTCTACTCCTGGGCCTCTCCCAAGGTTGTCCTGAGAATTGTAGTGAGAGGCACCTGTATTTCTGAGCCTCCTAGTTAACATTCAGCACTTAAGCCAGTTATGGTAAGTGCCCCCAGACAGAAGCTTGTCCATGGCAAATACCTTAAATGGACTTCCTGTTTCAGAAATCATCTGTGCACCCTTGGGTTGGGGAGGGGGATAGGAGACAAATGCATTTTGACCTCTGAAGTACAGTAGGCACAGGAATGGGCACAGGGCTTGTCTCTTCCCCAGGGGAAATGGACATCTGGGGAATGGAGGGAGGGGAAGCTGTCCTGGTGTTTCCTGAACCTTATTCCCATAACATCGGAGGAGAAA
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Task1_train_17926
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The gene KRT2 (keratin 2) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; not provided
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ACCTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGCACTCCTATCCCCACCCCCAGCCAAGACATTCTCTCGCTCACCTTTTTAAGCGTCACAAAATCATTCTCAGCAGCTGTGCGCTTATTGATTTCATCCTCATACCTATTGGGACACAGATGTTACAGCAGTTAGATTAGTTCCCCTTCATTTTTTTTCTTTTCCTTTTATACTGGATTCACCCCAAATGCCCCATTCTCTGGGAATATTACACACTTTTTAAATATCTAAATTGAAACTAAGATTTCCAAACTAAAGATATATTTTTATAAACTAACTCTCAAACATACAAAAGACAAAAATGATCTCTAAAGTCTCACTGTCTTCCTCACAAATAATCAACAAAGATACATATGCCTCTCCCCATTACCACCACAAATGCAACTGGGAGATGAATGGCTTTCCAGGGAGTGATCAAATGGCTCAGTGCAATGTTTATCTCCACTCAGCGTTTCACTCTGCCACCTACTTCTTCTTATAATCCTCCACAAGATCCTGCATGTTATTCAGCTCTGAATTCTGTGATGTTCTTTCTGCAGTGAGCCCATCCAGATATCTCTTGAGGCTGTCGATATACCCCTGGAAGATGGGCTCCAGGTTGATGGGGCGGGTGCCAACATTCATTTGTTGTAGCAGCTCCCATTTGGTCTGTAACACCTGGTTCTGCTGCTCCAAGAACCGCACCTGCCATGACCAGAAGGAGAGCACATGAGTTCTAGATCATCCTTCACACCAAGCAAGCCACGCTGGCCAGGGGCAGCTCAGGTGCTGCTTCAGGACCTCGAGAAGTGTCTGAGGCTGGATGCCGAGTCATGACTGGCAGAGCTTCTGAGCTCCCTGCTTTCGCCCCTGGAAAGTCCCACAGACTCCTAATGCTACATCCGGCTCTCTCCACGCAGAGGAGACTCTTTGCTGCTTCACTGCTCACTGGTTTGTTTGCAGCTGCTCCCAATACTCTAGACCATTTCCCTCCCCGCATCCTGGTTGAATTTCCAGCCAAGATCCCATAAATTCTGGGGAAAACCGAAAGCAGCCATCTGCTGGCACTGCTCGCAAGGGTGCTGAGTATGAGAGTCCCAGAGGGCAGGGCTCCTCAGCCTGATTTTTAAGAGCCTTGTAAATCCCTGCCTATTTCAAGGCAGATAAACCAAGACAGGTTCGTCTGCCTTGAAATAGGAGAAAAGCCAGTAACACTCCGAAGTGACACCAATAAAGACTTTATGGATCACAAAACTGAGAACGCTTCTCTTGAAGGCAGGAATTTCCTGCATTCCCAAGCAGATATTTCAGGTTCAGCTTCCCAGAGTTTAGTAATCACTGCTAAGGAAGGAAACACTATCTCAGAAGACGATGGCTTCCAAAACCTGCTGCTCCAGTGGCCTGTCCCAAGGATCAGTTCAATACTTGCCTATATCCATTTTTTATGGTTTTCAGAATTTTCCATAAATATTATTTATATGGACTGTAACAATAAGGTCAAAGGGACAAATGCTTCCTAAGTGCAGGCTGTTATGGGAAATGTAACCCACAAAGCTGGCGTCTTTTCCATCTGGAAACCGCAAATGACCCAGGCTACTGCGGTACACCACTGGCTCCTAAGAAATACAAATCTGTGCCATTTTCTTTTTGGTTGGCTCTGGAAGTGAAGTGGCCTGAGCATCAGTGGGAGCCGTCTTCTCCAGAGTCACCTTGTCAATGAAGGAGGCAAATTTGTTGTTGAGAGTTTTGATCTGCTCACGCTCTTGGGCCTTCACATTCTGGATCTCTGGGTCAACTTTCACGTTGAGAGGCTGCAGGAGGCTCTGGTTGACAGAGACTTCGTGGATGCCACCAGGGTATCCTCCAGGCCCAAAGCCACCAGGACCCCCTAAACCTCCAACACCACCAGGGCCCCCAAAACCTCCAAAGCGGCCTCCACCAAAGCCGCCTCCACCGAAACCACCACCACTGAAGCCGCTGCCACCTCCAAAGCTGCTGCCGCCTCCAAAACCACCTCCTCTGCCACCAAATCCACCAGCGGCGCCAAAGCCACCACCTCCTCCAGCCACACTAATGGAGATGCTCTTGGTCCCTCCAAGGCCAACAAGACTCCGACTGCCAAAGCCGCCTCCACCGAAGCCCCCGCCACCACCACCATGGCGGCTCAAGCAGGAGAAGCTGGAAGTTGATCTCCGGCTTCCACCAGACACCACAGCTGAGCCGCTGCTGAAGCCCCGGAATCCTCCTCCACCTCCTCCTCTTCCTCGAGATTTGCAAGAGATCTGACAACTCATGATGCCTTTGTCCAGGGAGGAAAGTCACAGGCTCTTGAGAAGAGTCAAGGCTGGAGACTCAACTGTGCTGCTGGGAGGCTTTCAGGGTCCCCTTATATACCTGCCAACTAGGTGTTGTGTACATGGGTGTGGATCCACTTATACGTGGGTTTGGTCTGCCTGGGAGCTATTCCTGGTGCGTGATTATCAAGCTAATAGCCATTAAAAATCTACTAATCAGCTCCATCCCAGAACTTGCTTTGATTGCAAACTTCTGTTTATCTGGGCATCTGTCATGCAATTTGATTTTTGTAAAATCATCAAAAGAGGAGATCAGGGTTTGGGTTTCTCAATCTGGAAAAGGACCTTCTGCAGAATGCTGCTCCCTGTTCTGGACCTGCCCAAGGGAAGTCAGCTACCACCCATGCTTGTGCAGGCTCACCACCCCAGTTCAACAATGAAAGGGATGGTGGGTTTAGAGACTGCAAGAGCCCCTCAATGCCAGCCTTGTAGTTCTCTTGTAGTTTCCCTCTTTCCCAGAAAGAGCCCCAACTAGTGCAGGGGAGACTGCAAAGGTCTTAAATGACCTTAAATGCTAATTGGAAATCGACCTCCTCTTACAGAAAGTAATTGGCCTCGGATACTGCAAAAGAGGTGTCGATTTTCAAAATATCTTGGCTCTTTTCTTCCCATGCCACACCAAAAATACACAATAACTAGGCACCGAATAGAGATTTTTTATAACCATGATGGTTTGTATAACCATCAACTGTCCCTTGTCTACATGAACACCCAGAGGTTGAGAGGTATGAGAAAAGTTTCGCTGTTTCTGGACCTGTGTGATGCGGGACACCAAGTGAAAGTTTGCAAACCAAGATCCAAGTGTATATTGATTCAGTCAGTCAGTAATCACGTATTGCCTGGTGATCCTGGGAAGTGATTAGGAAGTCAGGCTCTTCAATGACATCCACAGATGCTTGAGGATAAGAAGACCATCCAGCCTGCACAGAGCACTCACACTTAAACTCAACCACTTCCTCTGTCCATGTGGCCAACTATGTGGGAGAGGTTCTTGGAGTAATAAAACTGAATTTAGTCAGAAATTCTGGGTTTGAGTCCCAGTTTTGCTATTTATTGGCTGTGAGGCCTTGAATGAAACCCTGAGGCTCTGTGGTCCCAGCTATAAAATGGGAAATTCGTATGAAGTGTTTTGAAAACCACCGTGCACAATAAAATGTCAGTATCATTATTGTTTGGGGTGAGACAAAGATAATTCCTTTTCCTTTCCCCCTTGCCATGTTACTGTCTTCTGGCTACTATGAACATGCACTCTCCACAGGCATCATAAATTACAGAACCAGGTGGTTCAGATCCTAGTACCAAGTTATCACAAAATAATGTAAAAAACATAAGTTTGAGGTCAAATCCCAATTTTCTTGTATCTTAGTTAAATGACCTCAGATAATCCATAATCCTCTTCAAGCCTCAGTTTCCTCATCTATAAAAAGTGA
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ACCTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGCACTCCTATCCCCACCCCCAGCCAAGACATTCTCTCGCTCACCTTTTTAAGCGTCACAAAATCATTCTCAGCAGCTGTGCGCTTATTGATTTCATCCTCATACCTATTGGGACACAGATGTTACAGCAGTTAGATTAGTTCCCCTTCATTTTTTTTCTTTTCCTTTTATACTGGATTCACCCCAAATGCCCCATTCTCTGGGAATATTACACACTTTTTAAATATCTAAATTGAAACTAAGATTTCCAAACTAAAGATATATTTTTATAAACTAACTCTCAAACATACAAAAGACAAAAATGATCTCTAAAGTCTCACTGTCTTCCTCACAAATAATCAACAAAGATACATATGCCTCTCCCCATTACCACCACAAATGCAACTGGGAGATGAATGGCTTTCCAGGGAGTGATCAAATGGCTCAGTGCAATGTTTATCTCCACTCAGCGTTTCACTCTGCCACCTACTTCTTCTTATAATCCTCCACAAGATCCTGCATGTTATTCAGCTCTGAATTCTGTGATGTTCTTTCTGCAGTGAGCCCATCCAGATATCTCTTGAGGCTGTCGATATACCCCTGGAAGATGGGCTCCAGGTTGATGGGGCGGGTGCCAACATTCATTTGTTGTAGCAGCTCCCATTTGGTCTGTAACACCTGGTTCTGCTGCTCCAAGAACCGCACCTGCCATGACCAGAAGGAGAGCACATGAGTTCTAGATCATCCTTCACACCAAGCAAGCCACGCTGGCCAGGGGCAGCTCAGGTGCTGCTTCAGGACCTCGAGAAGTGTCTGAGGCTGGATGCCGAGTCATGACTGGCAGAGCTTCTGAGCTCCCTGCTTTCGCCCCTGGAAAGTCCCACAGACTCCTAATGCTACATCCGGCTCTCTCCACGCAGAGGAGACTCTTTGCTGCTTCACTGCTCACTGGTTTGTTTGCAGCTGCTCCCAATACTCTAGACCATTTCCCTCCCCGCATCCTGGTTGAATTTCCAGCCAAGATCCCATAAATTCTGGGGAAAACCGAAAGCAGCCATCTGCTGGCACTGCTCGCAAGGGTGCTGAGTATGAGAGTCCCAGAGGGCAGGGCTCCTCAGCCTGATTTTTAAGAGCCTTGTAAATCCCTGCCTATTTCAAGGCAGATAAACCAAGACAGGTTCGTCTGCCTTGAAATAGGAGAAAAGCCAGTAACACTCCGAAGTGACACCAATAAAGACTTTATGGATCACAAAACTGAGAACGCTTCTCTTGAAGGCAGGAATTTCCTGCATTCCCAAGCAGATATTTCAGGTTCAGCTTCCCAGAGTTTAGTAATCACTGCTAAGGAAGGAAACACTATCTCAGAAGACGATGGCTTCCAAAACCTGCTGCTCCAGTGGCCTGTCCCAAGGATCAGTTCAATACTTGCCTATATCCATTTTTTATGGTTTTCAGAATTTTCCATAAATATTATTTATATGGACTGTAACAATAAGGTCAAAGGGACAAATGCTTCCTAAGTGCAGGCTGTTATGGGAAATGTAACCCACAAAGCTGGCGTCTTTTCCATCTGGAAACCGCAAATGACCCAGGCTACTGCGGTACACCACTGGCTCCTAAGAAATACAAATCTGTGCCATTTTCTTTTTGGTTGGCTCTGGAAGTGAAGTGGCCTGAGCATCAGTGGGAGCCGTCTTCTCCAGAGTCACCTTGTCAATGAAGGAGGCAAATTTGTTTTTGAGAGTTTTGATCTGCTCACGCTCTTGGGCCTTCACATTCTGGATCTCTGGGTCAACTTTCACGTTGAGAGGCTGCAGGAGGCTCTGGTTGACAGAGACTTCGTGGATGCCACCAGGGTATCCTCCAGGCCCAAAGCCACCAGGACCCCCTAAACCTCCAACACCACCAGGGCCCCCAAAACCTCCAAAGCGGCCTCCACCAAAGCCGCCTCCACCGAAACCACCACCACTGAAGCCGCTGCCACCTCCAAAGCTGCTGCCGCCTCCAAAACCACCTCCTCTGCCACCAAATCCACCAGCGGCGCCAAAGCCACCACCTCCTCCAGCCACACTAATGGAGATGCTCTTGGTCCCTCCAAGGCCAACAAGACTCCGACTGCCAAAGCCGCCTCCACCGAAGCCCCCGCCACCACCACCATGGCGGCTCAAGCAGGAGAAGCTGGAAGTTGATCTCCGGCTTCCACCAGACACCACAGCTGAGCCGCTGCTGAAGCCCCGGAATCCTCCTCCACCTCCTCCTCTTCCTCGAGATTTGCAAGAGATCTGACAACTCATGATGCCTTTGTCCAGGGAGGAAAGTCACAGGCTCTTGAGAAGAGTCAAGGCTGGAGACTCAACTGTGCTGCTGGGAGGCTTTCAGGGTCCCCTTATATACCTGCCAACTAGGTGTTGTGTACATGGGTGTGGATCCACTTATACGTGGGTTTGGTCTGCCTGGGAGCTATTCCTGGTGCGTGATTATCAAGCTAATAGCCATTAAAAATCTACTAATCAGCTCCATCCCAGAACTTGCTTTGATTGCAAACTTCTGTTTATCTGGGCATCTGTCATGCAATTTGATTTTTGTAAAATCATCAAAAGAGGAGATCAGGGTTTGGGTTTCTCAATCTGGAAAAGGACCTTCTGCAGAATGCTGCTCCCTGTTCTGGACCTGCCCAAGGGAAGTCAGCTACCACCCATGCTTGTGCAGGCTCACCACCCCAGTTCAACAATGAAAGGGATGGTGGGTTTAGAGACTGCAAGAGCCCCTCAATGCCAGCCTTGTAGTTCTCTTGTAGTTTCCCTCTTTCCCAGAAAGAGCCCCAACTAGTGCAGGGGAGACTGCAAAGGTCTTAAATGACCTTAAATGCTAATTGGAAATCGACCTCCTCTTACAGAAAGTAATTGGCCTCGGATACTGCAAAAGAGGTGTCGATTTTCAAAATATCTTGGCTCTTTTCTTCCCATGCCACACCAAAAATACACAATAACTAGGCACCGAATAGAGATTTTTTATAACCATGATGGTTTGTATAACCATCAACTGTCCCTTGTCTACATGAACACCCAGAGGTTGAGAGGTATGAGAAAAGTTTCGCTGTTTCTGGACCTGTGTGATGCGGGACACCAAGTGAAAGTTTGCAAACCAAGATCCAAGTGTATATTGATTCAGTCAGTCAGTAATCACGTATTGCCTGGTGATCCTGGGAAGTGATTAGGAAGTCAGGCTCTTCAATGACATCCACAGATGCTTGAGGATAAGAAGACCATCCAGCCTGCACAGAGCACTCACACTTAAACTCAACCACTTCCTCTGTCCATGTGGCCAACTATGTGGGAGAGGTTCTTGGAGTAATAAAACTGAATTTAGTCAGAAATTCTGGGTTTGAGTCCCAGTTTTGCTATTTATTGGCTGTGAGGCCTTGAATGAAACCCTGAGGCTCTGTGGTCCCAGCTATAAAATGGGAAATTCGTATGAAGTGTTTTGAAAACCACCGTGCACAATAAAATGTCAGTATCATTATTGTTTGGGGTGAGACAAAGATAATTCCTTTTCCTTTCCCCCTTGCCATGTTACTGTCTTCTGGCTACTATGAACATGCACTCTCCACAGGCATCATAAATTACAGAACCAGGTGGTTCAGATCCTAGTACCAAGTTATCACAAAATAATGTAAAAAACATAAGTTTGAGGTCAAATCCCAATTTTCTTGTATCTTAGTTAAATGACCTCAGATAATCCATAATCCTCTTCAAGCCTCAGTTTCCTCATCTATAAAAAGTGA
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Task1_train_17927
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Here is a genetic alteration in KRT2 (keratin 2) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Ichthyosis bullosa of Siemens
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CTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGCACTCCTATCCCCACCCCCAGCCAAGACATTCTCTCGCTCACCTTTTTAAGCGTCACAAAATCATTCTCAGCAGCTGTGCGCTTATTGATTTCATCCTCATACCTATTGGGACACAGATGTTACAGCAGTTAGATTAGTTCCCCTTCATTTTTTTTCTTTTCCTTTTATACTGGATTCACCCCAAATGCCCCATTCTCTGGGAATATTACACACTTTTTAAATATCTAAATTGAAACTAAGATTTCCAAACTAAAGATATATTTTTATAAACTAACTCTCAAACATACAAAAGACAAAAATGATCTCTAAAGTCTCACTGTCTTCCTCACAAATAATCAACAAAGATACATATGCCTCTCCCCATTACCACCACAAATGCAACTGGGAGATGAATGGCTTTCCAGGGAGTGATCAAATGGCTCAGTGCAATGTTTATCTCCACTCAGCGTTTCACTCTGCCACCTACTTCTTCTTATAATCCTCCACAAGATCCTGCATGTTATTCAGCTCTGAATTCTGTGATGTTCTTTCTGCAGTGAGCCCATCCAGATATCTCTTGAGGCTGTCGATATACCCCTGGAAGATGGGCTCCAGGTTGATGGGGCGGGTGCCAACATTCATTTGTTGTAGCAGCTCCCATTTGGTCTGTAACACCTGGTTCTGCTGCTCCAAGAACCGCACCTGCCATGACCAGAAGGAGAGCACATGAGTTCTAGATCATCCTTCACACCAAGCAAGCCACGCTGGCCAGGGGCAGCTCAGGTGCTGCTTCAGGACCTCGAGAAGTGTCTGAGGCTGGATGCCGAGTCATGACTGGCAGAGCTTCTGAGCTCCCTGCTTTCGCCCCTGGAAAGTCCCACAGACTCCTAATGCTACATCCGGCTCTCTCCACGCAGAGGAGACTCTTTGCTGCTTCACTGCTCACTGGTTTGTTTGCAGCTGCTCCCAATACTCTAGACCATTTCCCTCCCCGCATCCTGGTTGAATTTCCAGCCAAGATCCCATAAATTCTGGGGAAAACCGAAAGCAGCCATCTGCTGGCACTGCTCGCAAGGGTGCTGAGTATGAGAGTCCCAGAGGGCAGGGCTCCTCAGCCTGATTTTTAAGAGCCTTGTAAATCCCTGCCTATTTCAAGGCAGATAAACCAAGACAGGTTCGTCTGCCTTGAAATAGGAGAAAAGCCAGTAACACTCCGAAGTGACACCAATAAAGACTTTATGGATCACAAAACTGAGAACGCTTCTCTTGAAGGCAGGAATTTCCTGCATTCCCAAGCAGATATTTCAGGTTCAGCTTCCCAGAGTTTAGTAATCACTGCTAAGGAAGGAAACACTATCTCAGAAGACGATGGCTTCCAAAACCTGCTGCTCCAGTGGCCTGTCCCAAGGATCAGTTCAATACTTGCCTATATCCATTTTTTATGGTTTTCAGAATTTTCCATAAATATTATTTATATGGACTGTAACAATAAGGTCAAAGGGACAAATGCTTCCTAAGTGCAGGCTGTTATGGGAAATGTAACCCACAAAGCTGGCGTCTTTTCCATCTGGAAACCGCAAATGACCCAGGCTACTGCGGTACACCACTGGCTCCTAAGAAATACAAATCTGTGCCATTTTCTTTTTGGTTGGCTCTGGAAGTGAAGTGGCCTGAGCATCAGTGGGAGCCGTCTTCTCCAGAGTCACCTTGTCAATGAAGGAGGCAAATTTGTTGTTGAGAGTTTTGATCTGCTCACGCTCTTGGGCCTTCACATTCTGGATCTCTGGGTCAACTTTCACGTTGAGAGGCTGCAGGAGGCTCTGGTTGACAGAGACTTCGTGGATGCCACCAGGGTATCCTCCAGGCCCAAAGCCACCAGGACCCCCTAAACCTCCAACACCACCAGGGCCCCCAAAACCTCCAAAGCGGCCTCCACCAAAGCCGCCTCCACCGAAACCACCACCACTGAAGCCGCTGCCACCTCCAAAGCTGCTGCCGCCTCCAAAACCACCTCCTCTGCCACCAAATCCACCAGCGGCGCCAAAGCCACCACCTCCTCCAGCCACACTAATGGAGATGCTCTTGGTCCCTCCAAGGCCAACAAGACTCCGACTGCCAAAGCCGCCTCCACCGAAGCCCCCGCCACCACCACCATGGCGGCTCAAGCAGGAGAAGCTGGAAGTTGATCTCCGGCTTCCACCAGACACCACAGCTGAGCCGCTGCTGAAGCCCCGGAATCCTCCTCCACCTCCTCCTCTTCCTCGAGATTTGCAAGAGATCTGACAACTCATGATGCCTTTGTCCAGGGAGGAAAGTCACAGGCTCTTGAGAAGAGTCAAGGCTGGAGACTCAACTGTGCTGCTGGGAGGCTTTCAGGGTCCCCTTATATACCTGCCAACTAGGTGTTGTGTACATGGGTGTGGATCCACTTATACGTGGGTTTGGTCTGCCTGGGAGCTATTCCTGGTGCGTGATTATCAAGCTAATAGCCATTAAAAATCTACTAATCAGCTCCATCCCAGAACTTGCTTTGATTGCAAACTTCTGTTTATCTGGGCATCTGTCATGCAATTTGATTTTTGTAAAATCATCAAAAGAGGAGATCAGGGTTTGGGTTTCTCAATCTGGAAAAGGACCTTCTGCAGAATGCTGCTCCCTGTTCTGGACCTGCCCAAGGGAAGTCAGCTACCACCCATGCTTGTGCAGGCTCACCACCCCAGTTCAACAATGAAAGGGATGGTGGGTTTAGAGACTGCAAGAGCCCCTCAATGCCAGCCTTGTAGTTCTCTTGTAGTTTCCCTCTTTCCCAGAAAGAGCCCCAACTAGTGCAGGGGAGACTGCAAAGGTCTTAAATGACCTTAAATGCTAATTGGAAATCGACCTCCTCTTACAGAAAGTAATTGGCCTCGGATACTGCAAAAGAGGTGTCGATTTTCAAAATATCTTGGCTCTTTTCTTCCCATGCCACACCAAAAATACACAATAACTAGGCACCGAATAGAGATTTTTTATAACCATGATGGTTTGTATAACCATCAACTGTCCCTTGTCTACATGAACACCCAGAGGTTGAGAGGTATGAGAAAAGTTTCGCTGTTTCTGGACCTGTGTGATGCGGGACACCAAGTGAAAGTTTGCAAACCAAGATCCAAGTGTATATTGATTCAGTCAGTCAGTAATCACGTATTGCCTGGTGATCCTGGGAAGTGATTAGGAAGTCAGGCTCTTCAATGACATCCACAGATGCTTGAGGATAAGAAGACCATCCAGCCTGCACAGAGCACTCACACTTAAACTCAACCACTTCCTCTGTCCATGTGGCCAACTATGTGGGAGAGGTTCTTGGAGTAATAAAACTGAATTTAGTCAGAAATTCTGGGTTTGAGTCCCAGTTTTGCTATTTATTGGCTGTGAGGCCTTGAATGAAACCCTGAGGCTCTGTGGTCCCAGCTATAAAATGGGAAATTCGTATGAAGTGTTTTGAAAACCACCGTGCACAATAAAATGTCAGTATCATTATTGTTTGGGGTGAGACAAAGATAATTCCTTTTCCTTTCCCCCTTGCCATGTTACTGTCTTCTGGCTACTATGAACATGCACTCTCCACAGGCATCATAAATTACAGAACCAGGTGGTTCAGATCCTAGTACCAAGTTATCACAAAATAATGTAAAAAACATAAGTTTGAGGTCAAATCCCAATTTTCTTGTATCTTAGTTAAATGACCTCAGATAATCCATAATCCTCTTCAAGCCTCAGTTTCCTCATCTATAAAAAGTGAAC
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CTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGCACTCCTATCCCCACCCCCAGCCAAGACATTCTCTCGCTCACCTTTTTAAGCGTCACAAAATCATTCTCAGCAGCTGTGCGCTTATTGATTTCATCCTCATACCTATTGGGACACAGATGTTACAGCAGTTAGATTAGTTCCCCTTCATTTTTTTTCTTTTCCTTTTATACTGGATTCACCCCAAATGCCCCATTCTCTGGGAATATTACACACTTTTTAAATATCTAAATTGAAACTAAGATTTCCAAACTAAAGATATATTTTTATAAACTAACTCTCAAACATACAAAAGACAAAAATGATCTCTAAAGTCTCACTGTCTTCCTCACAAATAATCAACAAAGATACATATGCCTCTCCCCATTACCACCACAAATGCAACTGGGAGATGAATGGCTTTCCAGGGAGTGATCAAATGGCTCAGTGCAATGTTTATCTCCACTCAGCGTTTCACTCTGCCACCTACTTCTTCTTATAATCCTCCACAAGATCCTGCATGTTATTCAGCTCTGAATTCTGTGATGTTCTTTCTGCAGTGAGCCCATCCAGATATCTCTTGAGGCTGTCGATATACCCCTGGAAGATGGGCTCCAGGTTGATGGGGCGGGTGCCAACATTCATTTGTTGTAGCAGCTCCCATTTGGTCTGTAACACCTGGTTCTGCTGCTCCAAGAACCGCACCTGCCATGACCAGAAGGAGAGCACATGAGTTCTAGATCATCCTTCACACCAAGCAAGCCACGCTGGCCAGGGGCAGCTCAGGTGCTGCTTCAGGACCTCGAGAAGTGTCTGAGGCTGGATGCCGAGTCATGACTGGCAGAGCTTCTGAGCTCCCTGCTTTCGCCCCTGGAAAGTCCCACAGACTCCTAATGCTACATCCGGCTCTCTCCACGCAGAGGAGACTCTTTGCTGCTTCACTGCTCACTGGTTTGTTTGCAGCTGCTCCCAATACTCTAGACCATTTCCCTCCCCGCATCCTGGTTGAATTTCCAGCCAAGATCCCATAAATTCTGGGGAAAACCGAAAGCAGCCATCTGCTGGCACTGCTCGCAAGGGTGCTGAGTATGAGAGTCCCAGAGGGCAGGGCTCCTCAGCCTGATTTTTAAGAGCCTTGTAAATCCCTGCCTATTTCAAGGCAGATAAACCAAGACAGGTTCGTCTGCCTTGAAATAGGAGAAAAGCCAGTAACACTCCGAAGTGACACCAATAAAGACTTTATGGATCACAAAACTGAGAACGCTTCTCTTGAAGGCAGGAATTTCCTGCATTCCCAAGCAGATATTTCAGGTTCAGCTTCCCAGAGTTTAGTAATCACTGCTAAGGAAGGAAACACTATCTCAGAAGACGATGGCTTCCAAAACCTGCTGCTCCAGTGGCCTGTCCCAAGGATCAGTTCAATACTTGCCTATATCCATTTTTTATGGTTTTCAGAATTTTCCATAAATATTATTTATATGGACTGTAACAATAAGGTCAAAGGGACAAATGCTTCCTAAGTGCAGGCTGTTATGGGAAATGTAACCCACAAAGCTGGCGTCTTTTCCATCTGGAAACCGCAAATGACCCAGGCTACTGCGGTACACCACTGGCTCCTAAGAAATACAAATCTGTGCCATTTTCTTTTTGGTTGGCTCTGGAAGTGAAGTGGCCTGAGCATCAGTGGGAGCCGTCTTCTCCAGAGTCACCTTGTCAATGAAGGAGGCAAATTTGTTGTAGAGAGTTTTGATCTGCTCACGCTCTTGGGCCTTCACATTCTGGATCTCTGGGTCAACTTTCACGTTGAGAGGCTGCAGGAGGCTCTGGTTGACAGAGACTTCGTGGATGCCACCAGGGTATCCTCCAGGCCCAAAGCCACCAGGACCCCCTAAACCTCCAACACCACCAGGGCCCCCAAAACCTCCAAAGCGGCCTCCACCAAAGCCGCCTCCACCGAAACCACCACCACTGAAGCCGCTGCCACCTCCAAAGCTGCTGCCGCCTCCAAAACCACCTCCTCTGCCACCAAATCCACCAGCGGCGCCAAAGCCACCACCTCCTCCAGCCACACTAATGGAGATGCTCTTGGTCCCTCCAAGGCCAACAAGACTCCGACTGCCAAAGCCGCCTCCACCGAAGCCCCCGCCACCACCACCATGGCGGCTCAAGCAGGAGAAGCTGGAAGTTGATCTCCGGCTTCCACCAGACACCACAGCTGAGCCGCTGCTGAAGCCCCGGAATCCTCCTCCACCTCCTCCTCTTCCTCGAGATTTGCAAGAGATCTGACAACTCATGATGCCTTTGTCCAGGGAGGAAAGTCACAGGCTCTTGAGAAGAGTCAAGGCTGGAGACTCAACTGTGCTGCTGGGAGGCTTTCAGGGTCCCCTTATATACCTGCCAACTAGGTGTTGTGTACATGGGTGTGGATCCACTTATACGTGGGTTTGGTCTGCCTGGGAGCTATTCCTGGTGCGTGATTATCAAGCTAATAGCCATTAAAAATCTACTAATCAGCTCCATCCCAGAACTTGCTTTGATTGCAAACTTCTGTTTATCTGGGCATCTGTCATGCAATTTGATTTTTGTAAAATCATCAAAAGAGGAGATCAGGGTTTGGGTTTCTCAATCTGGAAAAGGACCTTCTGCAGAATGCTGCTCCCTGTTCTGGACCTGCCCAAGGGAAGTCAGCTACCACCCATGCTTGTGCAGGCTCACCACCCCAGTTCAACAATGAAAGGGATGGTGGGTTTAGAGACTGCAAGAGCCCCTCAATGCCAGCCTTGTAGTTCTCTTGTAGTTTCCCTCTTTCCCAGAAAGAGCCCCAACTAGTGCAGGGGAGACTGCAAAGGTCTTAAATGACCTTAAATGCTAATTGGAAATCGACCTCCTCTTACAGAAAGTAATTGGCCTCGGATACTGCAAAAGAGGTGTCGATTTTCAAAATATCTTGGCTCTTTTCTTCCCATGCCACACCAAAAATACACAATAACTAGGCACCGAATAGAGATTTTTTATAACCATGATGGTTTGTATAACCATCAACTGTCCCTTGTCTACATGAACACCCAGAGGTTGAGAGGTATGAGAAAAGTTTCGCTGTTTCTGGACCTGTGTGATGCGGGACACCAAGTGAAAGTTTGCAAACCAAGATCCAAGTGTATATTGATTCAGTCAGTCAGTAATCACGTATTGCCTGGTGATCCTGGGAAGTGATTAGGAAGTCAGGCTCTTCAATGACATCCACAGATGCTTGAGGATAAGAAGACCATCCAGCCTGCACAGAGCACTCACACTTAAACTCAACCACTTCCTCTGTCCATGTGGCCAACTATGTGGGAGAGGTTCTTGGAGTAATAAAACTGAATTTAGTCAGAAATTCTGGGTTTGAGTCCCAGTTTTGCTATTTATTGGCTGTGAGGCCTTGAATGAAACCCTGAGGCTCTGTGGTCCCAGCTATAAAATGGGAAATTCGTATGAAGTGTTTTGAAAACCACCGTGCACAATAAAATGTCAGTATCATTATTGTTTGGGGTGAGACAAAGATAATTCCTTTTCCTTTCCCCCTTGCCATGTTACTGTCTTCTGGCTACTATGAACATGCACTCTCCACAGGCATCATAAATTACAGAACCAGGTGGTTCAGATCCTAGTACCAAGTTATCACAAAATAATGTAAAAAACATAAGTTTGAGGTCAAATCCCAATTTTCTTGTATCTTAGTTAAATGACCTCAGATAATCCATAATCCTCTTCAAGCCTCAGTTTCCTCATCTATAAAAAGTGAAC
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Task1_train_17928
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Here’s a variant in KRT2 (keratin 2) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Ichthyosis bullosa of Siemens
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CTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGCACTCCTATCCCCACCCCCAGCCAAGACATTCTCTCGCTCACCTTTTTAAGCGTCACAAAATCATTCTCAGCAGCTGTGCGCTTATTGATTTCATCCTCATACCTATTGGGACACAGATGTTACAGCAGTTAGATTAGTTCCCCTTCATTTTTTTTCTTTTCCTTTTATACTGGATTCACCCCAAATGCCCCATTCTCTGGGAATATTACACACTTTTTAAATATCTAAATTGAAACTAAGATTTCCAAACTAAAGATATATTTTTATAAACTAACTCTCAAACATACAAAAGACAAAAATGATCTCTAAAGTCTCACTGTCTTCCTCACAAATAATCAACAAAGATACATATGCCTCTCCCCATTACCACCACAAATGCAACTGGGAGATGAATGGCTTTCCAGGGAGTGATCAAATGGCTCAGTGCAATGTTTATCTCCACTCAGCGTTTCACTCTGCCACCTACTTCTTCTTATAATCCTCCACAAGATCCTGCATGTTATTCAGCTCTGAATTCTGTGATGTTCTTTCTGCAGTGAGCCCATCCAGATATCTCTTGAGGCTGTCGATATACCCCTGGAAGATGGGCTCCAGGTTGATGGGGCGGGTGCCAACATTCATTTGTTGTAGCAGCTCCCATTTGGTCTGTAACACCTGGTTCTGCTGCTCCAAGAACCGCACCTGCCATGACCAGAAGGAGAGCACATGAGTTCTAGATCATCCTTCACACCAAGCAAGCCACGCTGGCCAGGGGCAGCTCAGGTGCTGCTTCAGGACCTCGAGAAGTGTCTGAGGCTGGATGCCGAGTCATGACTGGCAGAGCTTCTGAGCTCCCTGCTTTCGCCCCTGGAAAGTCCCACAGACTCCTAATGCTACATCCGGCTCTCTCCACGCAGAGGAGACTCTTTGCTGCTTCACTGCTCACTGGTTTGTTTGCAGCTGCTCCCAATACTCTAGACCATTTCCCTCCCCGCATCCTGGTTGAATTTCCAGCCAAGATCCCATAAATTCTGGGGAAAACCGAAAGCAGCCATCTGCTGGCACTGCTCGCAAGGGTGCTGAGTATGAGAGTCCCAGAGGGCAGGGCTCCTCAGCCTGATTTTTAAGAGCCTTGTAAATCCCTGCCTATTTCAAGGCAGATAAACCAAGACAGGTTCGTCTGCCTTGAAATAGGAGAAAAGCCAGTAACACTCCGAAGTGACACCAATAAAGACTTTATGGATCACAAAACTGAGAACGCTTCTCTTGAAGGCAGGAATTTCCTGCATTCCCAAGCAGATATTTCAGGTTCAGCTTCCCAGAGTTTAGTAATCACTGCTAAGGAAGGAAACACTATCTCAGAAGACGATGGCTTCCAAAACCTGCTGCTCCAGTGGCCTGTCCCAAGGATCAGTTCAATACTTGCCTATATCCATTTTTTATGGTTTTCAGAATTTTCCATAAATATTATTTATATGGACTGTAACAATAAGGTCAAAGGGACAAATGCTTCCTAAGTGCAGGCTGTTATGGGAAATGTAACCCACAAAGCTGGCGTCTTTTCCATCTGGAAACCGCAAATGACCCAGGCTACTGCGGTACACCACTGGCTCCTAAGAAATACAAATCTGTGCCATTTTCTTTTTGGTTGGCTCTGGAAGTGAAGTGGCCTGAGCATCAGTGGGAGCCGTCTTCTCCAGAGTCACCTTGTCAATGAAGGAGGCAAATTTGTTGTTGAGAGTTTTGATCTGCTCACGCTCTTGGGCCTTCACATTCTGGATCTCTGGGTCAACTTTCACGTTGAGAGGCTGCAGGAGGCTCTGGTTGACAGAGACTTCGTGGATGCCACCAGGGTATCCTCCAGGCCCAAAGCCACCAGGACCCCCTAAACCTCCAACACCACCAGGGCCCCCAAAACCTCCAAAGCGGCCTCCACCAAAGCCGCCTCCACCGAAACCACCACCACTGAAGCCGCTGCCACCTCCAAAGCTGCTGCCGCCTCCAAAACCACCTCCTCTGCCACCAAATCCACCAGCGGCGCCAAAGCCACCACCTCCTCCAGCCACACTAATGGAGATGCTCTTGGTCCCTCCAAGGCCAACAAGACTCCGACTGCCAAAGCCGCCTCCACCGAAGCCCCCGCCACCACCACCATGGCGGCTCAAGCAGGAGAAGCTGGAAGTTGATCTCCGGCTTCCACCAGACACCACAGCTGAGCCGCTGCTGAAGCCCCGGAATCCTCCTCCACCTCCTCCTCTTCCTCGAGATTTGCAAGAGATCTGACAACTCATGATGCCTTTGTCCAGGGAGGAAAGTCACAGGCTCTTGAGAAGAGTCAAGGCTGGAGACTCAACTGTGCTGCTGGGAGGCTTTCAGGGTCCCCTTATATACCTGCCAACTAGGTGTTGTGTACATGGGTGTGGATCCACTTATACGTGGGTTTGGTCTGCCTGGGAGCTATTCCTGGTGCGTGATTATCAAGCTAATAGCCATTAAAAATCTACTAATCAGCTCCATCCCAGAACTTGCTTTGATTGCAAACTTCTGTTTATCTGGGCATCTGTCATGCAATTTGATTTTTGTAAAATCATCAAAAGAGGAGATCAGGGTTTGGGTTTCTCAATCTGGAAAAGGACCTTCTGCAGAATGCTGCTCCCTGTTCTGGACCTGCCCAAGGGAAGTCAGCTACCACCCATGCTTGTGCAGGCTCACCACCCCAGTTCAACAATGAAAGGGATGGTGGGTTTAGAGACTGCAAGAGCCCCTCAATGCCAGCCTTGTAGTTCTCTTGTAGTTTCCCTCTTTCCCAGAAAGAGCCCCAACTAGTGCAGGGGAGACTGCAAAGGTCTTAAATGACCTTAAATGCTAATTGGAAATCGACCTCCTCTTACAGAAAGTAATTGGCCTCGGATACTGCAAAAGAGGTGTCGATTTTCAAAATATCTTGGCTCTTTTCTTCCCATGCCACACCAAAAATACACAATAACTAGGCACCGAATAGAGATTTTTTATAACCATGATGGTTTGTATAACCATCAACTGTCCCTTGTCTACATGAACACCCAGAGGTTGAGAGGTATGAGAAAAGTTTCGCTGTTTCTGGACCTGTGTGATGCGGGACACCAAGTGAAAGTTTGCAAACCAAGATCCAAGTGTATATTGATTCAGTCAGTCAGTAATCACGTATTGCCTGGTGATCCTGGGAAGTGATTAGGAAGTCAGGCTCTTCAATGACATCCACAGATGCTTGAGGATAAGAAGACCATCCAGCCTGCACAGAGCACTCACACTTAAACTCAACCACTTCCTCTGTCCATGTGGCCAACTATGTGGGAGAGGTTCTTGGAGTAATAAAACTGAATTTAGTCAGAAATTCTGGGTTTGAGTCCCAGTTTTGCTATTTATTGGCTGTGAGGCCTTGAATGAAACCCTGAGGCTCTGTGGTCCCAGCTATAAAATGGGAAATTCGTATGAAGTGTTTTGAAAACCACCGTGCACAATAAAATGTCAGTATCATTATTGTTTGGGGTGAGACAAAGATAATTCCTTTTCCTTTCCCCCTTGCCATGTTACTGTCTTCTGGCTACTATGAACATGCACTCTCCACAGGCATCATAAATTACAGAACCAGGTGGTTCAGATCCTAGTACCAAGTTATCACAAAATAATGTAAAAAACATAAGTTTGAGGTCAAATCCCAATTTTCTTGTATCTTAGTTAAATGACCTCAGATAATCCATAATCCTCTTCAAGCCTCAGTTTCCTCATCTATAAAAAGTGAAC
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CTCAAACCTTTGTCAGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGCACTCCTATCCCCACCCCCAGCCAAGACATTCTCTCGCTCACCTTTTTAAGCGTCACAAAATCATTCTCAGCAGCTGTGCGCTTATTGATTTCATCCTCATACCTATTGGGACACAGATGTTACAGCAGTTAGATTAGTTCCCCTTCATTTTTTTTCTTTTCCTTTTATACTGGATTCACCCCAAATGCCCCATTCTCTGGGAATATTACACACTTTTTAAATATCTAAATTGAAACTAAGATTTCCAAACTAAAGATATATTTTTATAAACTAACTCTCAAACATACAAAAGACAAAAATGATCTCTAAAGTCTCACTGTCTTCCTCACAAATAATCAACAAAGATACATATGCCTCTCCCCATTACCACCACAAATGCAACTGGGAGATGAATGGCTTTCCAGGGAGTGATCAAATGGCTCAGTGCAATGTTTATCTCCACTCAGCGTTTCACTCTGCCACCTACTTCTTCTTATAATCCTCCACAAGATCCTGCATGTTATTCAGCTCTGAATTCTGTGATGTTCTTTCTGCAGTGAGCCCATCCAGATATCTCTTGAGGCTGTCGATATACCCCTGGAAGATGGGCTCCAGGTTGATGGGGCGGGTGCCAACATTCATTTGTTGTAGCAGCTCCCATTTGGTCTGTAACACCTGGTTCTGCTGCTCCAAGAACCGCACCTGCCATGACCAGAAGGAGAGCACATGAGTTCTAGATCATCCTTCACACCAAGCAAGCCACGCTGGCCAGGGGCAGCTCAGGTGCTGCTTCAGGACCTCGAGAAGTGTCTGAGGCTGGATGCCGAGTCATGACTGGCAGAGCTTCTGAGCTCCCTGCTTTCGCCCCTGGAAAGTCCCACAGACTCCTAATGCTACATCCGGCTCTCTCCACGCAGAGGAGACTCTTTGCTGCTTCACTGCTCACTGGTTTGTTTGCAGCTGCTCCCAATACTCTAGACCATTTCCCTCCCCGCATCCTGGTTGAATTTCCAGCCAAGATCCCATAAATTCTGGGGAAAACCGAAAGCAGCCATCTGCTGGCACTGCTCGCAAGGGTGCTGAGTATGAGAGTCCCAGAGGGCAGGGCTCCTCAGCCTGATTTTTAAGAGCCTTGTAAATCCCTGCCTATTTCAAGGCAGATAAACCAAGACAGGTTCGTCTGCCTTGAAATAGGAGAAAAGCCAGTAACACTCCGAAGTGACACCAATAAAGACTTTATGGATCACAAAACTGAGAACGCTTCTCTTGAAGGCAGGAATTTCCTGCATTCCCAAGCAGATATTTCAGGTTCAGCTTCCCAGAGTTTAGTAATCACTGCTAAGGAAGGAAACACTATCTCAGAAGACGATGGCTTCCAAAACCTGCTGCTCCAGTGGCCTGTCCCAAGGATCAGTTCAATACTTGCCTATATCCATTTTTTATGGTTTTCAGAATTTTCCATAAATATTATTTATATGGACTGTAACAATAAGGTCAAAGGGACAAATGCTTCCTAAGTGCAGGCTGTTATGGGAAATGTAACCCACAAAGCTGGCGTCTTTTCCATCTGGAAACCGCAAATGACCCAGGCTACTGCGGTACACCACTGGCTCCTAAGAAATACAAATCTGTGCCATTTTCTTTTTGGTTGGCTCTGGAAGTGAAGTGGCCTGAGCATCAGTGGGAGCCGTCTTCTCCAGAGTCACCTTGTCAATGAAGGAGGCAAATTTGTTGTCGAGAGTTTTGATCTGCTCACGCTCTTGGGCCTTCACATTCTGGATCTCTGGGTCAACTTTCACGTTGAGAGGCTGCAGGAGGCTCTGGTTGACAGAGACTTCGTGGATGCCACCAGGGTATCCTCCAGGCCCAAAGCCACCAGGACCCCCTAAACCTCCAACACCACCAGGGCCCCCAAAACCTCCAAAGCGGCCTCCACCAAAGCCGCCTCCACCGAAACCACCACCACTGAAGCCGCTGCCACCTCCAAAGCTGCTGCCGCCTCCAAAACCACCTCCTCTGCCACCAAATCCACCAGCGGCGCCAAAGCCACCACCTCCTCCAGCCACACTAATGGAGATGCTCTTGGTCCCTCCAAGGCCAACAAGACTCCGACTGCCAAAGCCGCCTCCACCGAAGCCCCCGCCACCACCACCATGGCGGCTCAAGCAGGAGAAGCTGGAAGTTGATCTCCGGCTTCCACCAGACACCACAGCTGAGCCGCTGCTGAAGCCCCGGAATCCTCCTCCACCTCCTCCTCTTCCTCGAGATTTGCAAGAGATCTGACAACTCATGATGCCTTTGTCCAGGGAGGAAAGTCACAGGCTCTTGAGAAGAGTCAAGGCTGGAGACTCAACTGTGCTGCTGGGAGGCTTTCAGGGTCCCCTTATATACCTGCCAACTAGGTGTTGTGTACATGGGTGTGGATCCACTTATACGTGGGTTTGGTCTGCCTGGGAGCTATTCCTGGTGCGTGATTATCAAGCTAATAGCCATTAAAAATCTACTAATCAGCTCCATCCCAGAACTTGCTTTGATTGCAAACTTCTGTTTATCTGGGCATCTGTCATGCAATTTGATTTTTGTAAAATCATCAAAAGAGGAGATCAGGGTTTGGGTTTCTCAATCTGGAAAAGGACCTTCTGCAGAATGCTGCTCCCTGTTCTGGACCTGCCCAAGGGAAGTCAGCTACCACCCATGCTTGTGCAGGCTCACCACCCCAGTTCAACAATGAAAGGGATGGTGGGTTTAGAGACTGCAAGAGCCCCTCAATGCCAGCCTTGTAGTTCTCTTGTAGTTTCCCTCTTTCCCAGAAAGAGCCCCAACTAGTGCAGGGGAGACTGCAAAGGTCTTAAATGACCTTAAATGCTAATTGGAAATCGACCTCCTCTTACAGAAAGTAATTGGCCTCGGATACTGCAAAAGAGGTGTCGATTTTCAAAATATCTTGGCTCTTTTCTTCCCATGCCACACCAAAAATACACAATAACTAGGCACCGAATAGAGATTTTTTATAACCATGATGGTTTGTATAACCATCAACTGTCCCTTGTCTACATGAACACCCAGAGGTTGAGAGGTATGAGAAAAGTTTCGCTGTTTCTGGACCTGTGTGATGCGGGACACCAAGTGAAAGTTTGCAAACCAAGATCCAAGTGTATATTGATTCAGTCAGTCAGTAATCACGTATTGCCTGGTGATCCTGGGAAGTGATTAGGAAGTCAGGCTCTTCAATGACATCCACAGATGCTTGAGGATAAGAAGACCATCCAGCCTGCACAGAGCACTCACACTTAAACTCAACCACTTCCTCTGTCCATGTGGCCAACTATGTGGGAGAGGTTCTTGGAGTAATAAAACTGAATTTAGTCAGAAATTCTGGGTTTGAGTCCCAGTTTTGCTATTTATTGGCTGTGAGGCCTTGAATGAAACCCTGAGGCTCTGTGGTCCCAGCTATAAAATGGGAAATTCGTATGAAGTGTTTTGAAAACCACCGTGCACAATAAAATGTCAGTATCATTATTGTTTGGGGTGAGACAAAGATAATTCCTTTTCCTTTCCCCCTTGCCATGTTACTGTCTTCTGGCTACTATGAACATGCACTCTCCACAGGCATCATAAATTACAGAACCAGGTGGTTCAGATCCTAGTACCAAGTTATCACAAAATAATGTAAAAAACATAAGTTTGAGGTCAAATCCCAATTTTCTTGTATCTTAGTTAAATGACCTCAGATAATCCATAATCCTCTTCAAGCCTCAGTTTCCTCATCTATAAAAAGTGAAC
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Task1_train_17929
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A change on Chromosome 12 affects gene KRT2 (keratin 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Ichthyosis bullosa of Siemens
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AGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGCACTCCTATCCCCACCCCCAGCCAAGACATTCTCTCGCTCACCTTTTTAAGCGTCACAAAATCATTCTCAGCAGCTGTGCGCTTATTGATTTCATCCTCATACCTATTGGGACACAGATGTTACAGCAGTTAGATTAGTTCCCCTTCATTTTTTTTCTTTTCCTTTTATACTGGATTCACCCCAAATGCCCCATTCTCTGGGAATATTACACACTTTTTAAATATCTAAATTGAAACTAAGATTTCCAAACTAAAGATATATTTTTATAAACTAACTCTCAAACATACAAAAGACAAAAATGATCTCTAAAGTCTCACTGTCTTCCTCACAAATAATCAACAAAGATACATATGCCTCTCCCCATTACCACCACAAATGCAACTGGGAGATGAATGGCTTTCCAGGGAGTGATCAAATGGCTCAGTGCAATGTTTATCTCCACTCAGCGTTTCACTCTGCCACCTACTTCTTCTTATAATCCTCCACAAGATCCTGCATGTTATTCAGCTCTGAATTCTGTGATGTTCTTTCTGCAGTGAGCCCATCCAGATATCTCTTGAGGCTGTCGATATACCCCTGGAAGATGGGCTCCAGGTTGATGGGGCGGGTGCCAACATTCATTTGTTGTAGCAGCTCCCATTTGGTCTGTAACACCTGGTTCTGCTGCTCCAAGAACCGCACCTGCCATGACCAGAAGGAGAGCACATGAGTTCTAGATCATCCTTCACACCAAGCAAGCCACGCTGGCCAGGGGCAGCTCAGGTGCTGCTTCAGGACCTCGAGAAGTGTCTGAGGCTGGATGCCGAGTCATGACTGGCAGAGCTTCTGAGCTCCCTGCTTTCGCCCCTGGAAAGTCCCACAGACTCCTAATGCTACATCCGGCTCTCTCCACGCAGAGGAGACTCTTTGCTGCTTCACTGCTCACTGGTTTGTTTGCAGCTGCTCCCAATACTCTAGACCATTTCCCTCCCCGCATCCTGGTTGAATTTCCAGCCAAGATCCCATAAATTCTGGGGAAAACCGAAAGCAGCCATCTGCTGGCACTGCTCGCAAGGGTGCTGAGTATGAGAGTCCCAGAGGGCAGGGCTCCTCAGCCTGATTTTTAAGAGCCTTGTAAATCCCTGCCTATTTCAAGGCAGATAAACCAAGACAGGTTCGTCTGCCTTGAAATAGGAGAAAAGCCAGTAACACTCCGAAGTGACACCAATAAAGACTTTATGGATCACAAAACTGAGAACGCTTCTCTTGAAGGCAGGAATTTCCTGCATTCCCAAGCAGATATTTCAGGTTCAGCTTCCCAGAGTTTAGTAATCACTGCTAAGGAAGGAAACACTATCTCAGAAGACGATGGCTTCCAAAACCTGCTGCTCCAGTGGCCTGTCCCAAGGATCAGTTCAATACTTGCCTATATCCATTTTTTATGGTTTTCAGAATTTTCCATAAATATTATTTATATGGACTGTAACAATAAGGTCAAAGGGACAAATGCTTCCTAAGTGCAGGCTGTTATGGGAAATGTAACCCACAAAGCTGGCGTCTTTTCCATCTGGAAACCGCAAATGACCCAGGCTACTGCGGTACACCACTGGCTCCTAAGAAATACAAATCTGTGCCATTTTCTTTTTGGTTGGCTCTGGAAGTGAAGTGGCCTGAGCATCAGTGGGAGCCGTCTTCTCCAGAGTCACCTTGTCAATGAAGGAGGCAAATTTGTTGTTGAGAGTTTTGATCTGCTCACGCTCTTGGGCCTTCACATTCTGGATCTCTGGGTCAACTTTCACGTTGAGAGGCTGCAGGAGGCTCTGGTTGACAGAGACTTCGTGGATGCCACCAGGGTATCCTCCAGGCCCAAAGCCACCAGGACCCCCTAAACCTCCAACACCACCAGGGCCCCCAAAACCTCCAAAGCGGCCTCCACCAAAGCCGCCTCCACCGAAACCACCACCACTGAAGCCGCTGCCACCTCCAAAGCTGCTGCCGCCTCCAAAACCACCTCCTCTGCCACCAAATCCACCAGCGGCGCCAAAGCCACCACCTCCTCCAGCCACACTAATGGAGATGCTCTTGGTCCCTCCAAGGCCAACAAGACTCCGACTGCCAAAGCCGCCTCCACCGAAGCCCCCGCCACCACCACCATGGCGGCTCAAGCAGGAGAAGCTGGAAGTTGATCTCCGGCTTCCACCAGACACCACAGCTGAGCCGCTGCTGAAGCCCCGGAATCCTCCTCCACCTCCTCCTCTTCCTCGAGATTTGCAAGAGATCTGACAACTCATGATGCCTTTGTCCAGGGAGGAAAGTCACAGGCTCTTGAGAAGAGTCAAGGCTGGAGACTCAACTGTGCTGCTGGGAGGCTTTCAGGGTCCCCTTATATACCTGCCAACTAGGTGTTGTGTACATGGGTGTGGATCCACTTATACGTGGGTTTGGTCTGCCTGGGAGCTATTCCTGGTGCGTGATTATCAAGCTAATAGCCATTAAAAATCTACTAATCAGCTCCATCCCAGAACTTGCTTTGATTGCAAACTTCTGTTTATCTGGGCATCTGTCATGCAATTTGATTTTTGTAAAATCATCAAAAGAGGAGATCAGGGTTTGGGTTTCTCAATCTGGAAAAGGACCTTCTGCAGAATGCTGCTCCCTGTTCTGGACCTGCCCAAGGGAAGTCAGCTACCACCCATGCTTGTGCAGGCTCACCACCCCAGTTCAACAATGAAAGGGATGGTGGGTTTAGAGACTGCAAGAGCCCCTCAATGCCAGCCTTGTAGTTCTCTTGTAGTTTCCCTCTTTCCCAGAAAGAGCCCCAACTAGTGCAGGGGAGACTGCAAAGGTCTTAAATGACCTTAAATGCTAATTGGAAATCGACCTCCTCTTACAGAAAGTAATTGGCCTCGGATACTGCAAAAGAGGTGTCGATTTTCAAAATATCTTGGCTCTTTTCTTCCCATGCCACACCAAAAATACACAATAACTAGGCACCGAATAGAGATTTTTTATAACCATGATGGTTTGTATAACCATCAACTGTCCCTTGTCTACATGAACACCCAGAGGTTGAGAGGTATGAGAAAAGTTTCGCTGTTTCTGGACCTGTGTGATGCGGGACACCAAGTGAAAGTTTGCAAACCAAGATCCAAGTGTATATTGATTCAGTCAGTCAGTAATCACGTATTGCCTGGTGATCCTGGGAAGTGATTAGGAAGTCAGGCTCTTCAATGACATCCACAGATGCTTGAGGATAAGAAGACCATCCAGCCTGCACAGAGCACTCACACTTAAACTCAACCACTTCCTCTGTCCATGTGGCCAACTATGTGGGAGAGGTTCTTGGAGTAATAAAACTGAATTTAGTCAGAAATTCTGGGTTTGAGTCCCAGTTTTGCTATTTATTGGCTGTGAGGCCTTGAATGAAACCCTGAGGCTCTGTGGTCCCAGCTATAAAATGGGAAATTCGTATGAAGTGTTTTGAAAACCACCGTGCACAATAAAATGTCAGTATCATTATTGTTTGGGGTGAGACAAAGATAATTCCTTTTCCTTTCCCCCTTGCCATGTTACTGTCTTCTGGCTACTATGAACATGCACTCTCCACAGGCATCATAAATTACAGAACCAGGTGGTTCAGATCCTAGTACCAAGTTATCACAAAATAATGTAAAAAACATAAGTTTGAGGTCAAATCCCAATTTTCTTGTATCTTAGTTAAATGACCTCAGATAATCCATAATCCTCTTCAAGCCTCAGTTTCCTCATCTATAAAAAGTGAACAAGAATAATAAGAA
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AGCACAACCAACAGCAACTTTAAGCAGGCATTCTAAGGGAAGTCCCATTCCTTCCTCAGCTCTTTAGAAGGAGAATACAAAGAGATTTTTGTGTTTGCATTTATCATGATTCAGTAGAGGCTTTAAGTGGGTTACTACTGGGAAGCACTCTACCAAAAATGCAGAACAGCTTTGAAAACTGTATCCAGAAGCTTGACCTACAGAGACAATTTTGTTTGCAAGAGAATGTGCCATGGGTCTCACTCCTTTCTCTGGCTGCTGCTTTTGCACTCACAGTTGATTTCCAAACTGGCTGCTTAGACACAATGGGGCTGTGAAGCACTCCTATCCCCACCCCCAGCCAAGACATTCTCTCGCTCACCTTTTTAAGCGTCACAAAATCATTCTCAGCAGCTGTGCGCTTATTGATTTCATCCTCATACCTATTGGGACACAGATGTTACAGCAGTTAGATTAGTTCCCCTTCATTTTTTTTCTTTTCCTTTTATACTGGATTCACCCCAAATGCCCCATTCTCTGGGAATATTACACACTTTTTAAATATCTAAATTGAAACTAAGATTTCCAAACTAAAGATATATTTTTATAAACTAACTCTCAAACATACAAAAGACAAAAATGATCTCTAAAGTCTCACTGTCTTCCTCACAAATAATCAACAAAGATACATATGCCTCTCCCCATTACCACCACAAATGCAACTGGGAGATGAATGGCTTTCCAGGGAGTGATCAAATGGCTCAGTGCAATGTTTATCTCCACTCAGCGTTTCACTCTGCCACCTACTTCTTCTTATAATCCTCCACAAGATCCTGCATGTTATTCAGCTCTGAATTCTGTGATGTTCTTTCTGCAGTGAGCCCATCCAGATATCTCTTGAGGCTGTCGATATACCCCTGGAAGATGGGCTCCAGGTTGATGGGGCGGGTGCCAACATTCATTTGTTGTAGCAGCTCCCATTTGGTCTGTAACACCTGGTTCTGCTGCTCCAAGAACCGCACCTGCCATGACCAGAAGGAGAGCACATGAGTTCTAGATCATCCTTCACACCAAGCAAGCCACGCTGGCCAGGGGCAGCTCAGGTGCTGCTTCAGGACCTCGAGAAGTGTCTGAGGCTGGATGCCGAGTCATGACTGGCAGAGCTTCTGAGCTCCCTGCTTTCGCCCCTGGAAAGTCCCACAGACTCCTAATGCTACATCCGGCTCTCTCCACGCAGAGGAGACTCTTTGCTGCTTCACTGCTCACTGGTTTGTTTGCAGCTGCTCCCAATACTCTAGACCATTTCCCTCCCCGCATCCTGGTTGAATTTCCAGCCAAGATCCCATAAATTCTGGGGAAAACCGAAAGCAGCCATCTGCTGGCACTGCTCGCAAGGGTGCTGAGTATGAGAGTCCCAGAGGGCAGGGCTCCTCAGCCTGATTTTTAAGAGCCTTGTAAATCCCTGCCTATTTCAAGGCAGATAAACCAAGACAGGTTCGTCTGCCTTGAAATAGGAGAAAAGCCAGTAACACTCCGAAGTGACACCAATAAAGACTTTATGGATCACAAAACTGAGAACGCTTCTCTTGAAGGCAGGAATTTCCTGCATTCCCAAGCAGATATTTCAGGTTCAGCTTCCCAGAGTTTAGTAATCACTGCTAAGGAAGGAAACACTATCTCAGAAGACGATGGCTTCCAAAACCTGCTGCTCCAGTGGCCTGTCCCAAGGATCAGTTCAATACTTGCCTATATCCATTTTTTATGGTTTTCAGAATTTTCCATAAATATTATTTATATGGACTGTAACAATAAGGTCAAAGGGACAAATGCTTCCTAAGTGCAGGCTGTTATGGGAAATGTAACCCACAAAGCTGGCGTCTTTTCCATCTGGAAACCGCAAATGACCCAGGCTACTGCGGTACACCACTGGCTCCTAAGAAATACAAATCTGTGCCATTTTCTTTTTGGTTGGCTCTGGAAGTGAAGTGGCCTGAGCATCAGTGGGAGCCGTCTTCTCCAGAGTCACCTTGTCAATGAAGGAGGCAAATTTGTTGTTGAGAGTTTTGATCGGCTCACGCTCTTGGGCCTTCACATTCTGGATCTCTGGGTCAACTTTCACGTTGAGAGGCTGCAGGAGGCTCTGGTTGACAGAGACTTCGTGGATGCCACCAGGGTATCCTCCAGGCCCAAAGCCACCAGGACCCCCTAAACCTCCAACACCACCAGGGCCCCCAAAACCTCCAAAGCGGCCTCCACCAAAGCCGCCTCCACCGAAACCACCACCACTGAAGCCGCTGCCACCTCCAAAGCTGCTGCCGCCTCCAAAACCACCTCCTCTGCCACCAAATCCACCAGCGGCGCCAAAGCCACCACCTCCTCCAGCCACACTAATGGAGATGCTCTTGGTCCCTCCAAGGCCAACAAGACTCCGACTGCCAAAGCCGCCTCCACCGAAGCCCCCGCCACCACCACCATGGCGGCTCAAGCAGGAGAAGCTGGAAGTTGATCTCCGGCTTCCACCAGACACCACAGCTGAGCCGCTGCTGAAGCCCCGGAATCCTCCTCCACCTCCTCCTCTTCCTCGAGATTTGCAAGAGATCTGACAACTCATGATGCCTTTGTCCAGGGAGGAAAGTCACAGGCTCTTGAGAAGAGTCAAGGCTGGAGACTCAACTGTGCTGCTGGGAGGCTTTCAGGGTCCCCTTATATACCTGCCAACTAGGTGTTGTGTACATGGGTGTGGATCCACTTATACGTGGGTTTGGTCTGCCTGGGAGCTATTCCTGGTGCGTGATTATCAAGCTAATAGCCATTAAAAATCTACTAATCAGCTCCATCCCAGAACTTGCTTTGATTGCAAACTTCTGTTTATCTGGGCATCTGTCATGCAATTTGATTTTTGTAAAATCATCAAAAGAGGAGATCAGGGTTTGGGTTTCTCAATCTGGAAAAGGACCTTCTGCAGAATGCTGCTCCCTGTTCTGGACCTGCCCAAGGGAAGTCAGCTACCACCCATGCTTGTGCAGGCTCACCACCCCAGTTCAACAATGAAAGGGATGGTGGGTTTAGAGACTGCAAGAGCCCCTCAATGCCAGCCTTGTAGTTCTCTTGTAGTTTCCCTCTTTCCCAGAAAGAGCCCCAACTAGTGCAGGGGAGACTGCAAAGGTCTTAAATGACCTTAAATGCTAATTGGAAATCGACCTCCTCTTACAGAAAGTAATTGGCCTCGGATACTGCAAAAGAGGTGTCGATTTTCAAAATATCTTGGCTCTTTTCTTCCCATGCCACACCAAAAATACACAATAACTAGGCACCGAATAGAGATTTTTTATAACCATGATGGTTTGTATAACCATCAACTGTCCCTTGTCTACATGAACACCCAGAGGTTGAGAGGTATGAGAAAAGTTTCGCTGTTTCTGGACCTGTGTGATGCGGGACACCAAGTGAAAGTTTGCAAACCAAGATCCAAGTGTATATTGATTCAGTCAGTCAGTAATCACGTATTGCCTGGTGATCCTGGGAAGTGATTAGGAAGTCAGGCTCTTCAATGACATCCACAGATGCTTGAGGATAAGAAGACCATCCAGCCTGCACAGAGCACTCACACTTAAACTCAACCACTTCCTCTGTCCATGTGGCCAACTATGTGGGAGAGGTTCTTGGAGTAATAAAACTGAATTTAGTCAGAAATTCTGGGTTTGAGTCCCAGTTTTGCTATTTATTGGCTGTGAGGCCTTGAATGAAACCCTGAGGCTCTGTGGTCCCAGCTATAAAATGGGAAATTCGTATGAAGTGTTTTGAAAACCACCGTGCACAATAAAATGTCAGTATCATTATTGTTTGGGGTGAGACAAAGATAATTCCTTTTCCTTTCCCCCTTGCCATGTTACTGTCTTCTGGCTACTATGAACATGCACTCTCCACAGGCATCATAAATTACAGAACCAGGTGGTTCAGATCCTAGTACCAAGTTATCACAAAATAATGTAAAAAACATAAGTTTGAGGTCAAATCCCAATTTTCTTGTATCTTAGTTAAATGACCTCAGATAATCCATAATCCTCTTCAAGCCTCAGTTTCCTCATCTATAAAAAGTGAACAAGAATAATAAGAA
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Task1_train_17930
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This sequence variant lies in KRT1 (keratin 1) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; not provided
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AAAGAGAAGGGAAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGCCTGGTTGGCCTCTGCATTTTTCTCATGTTTGTGTGCATGACTTTCCCATATGCCATGTGGCTCTAGTGTCTTCTTTTACCTCACAAAACACCCATCCAGGTTAGACAGTGCCGTAAACAAGGGCGATCGAGACATGGAGAATTTCAAATGCAGTTTATTGCAGCAAAACAAGGAAATGGGGAGTTTAAGACCTCTCCACAAAAGAAAAACAACTTGCTTACACCTTATGTACAAAACCAAAACAGCACAGAGATAAGATGCTAAGGAGCTGTCCACACCCTGGGTCTAACTGGTCCTACTCTGGCTGGCTTAAGGAGGTGCTTTGAAATGTCATGTGGGTGGTGGTCACTGCTGAACTGTTTCTCAGGGAAAGAACAAAGCAGGGTCATAGCCAGGGGACTGAGATTGCCACTGATCTGAAAACTTCATTGGGAAACAGCAGAAAAGAAAGAGCTGGGGGAATAGGATGAGCTAGTGTAACTAACCATAGCTCTTTTCTCCGGTAAGGCTGGGACAAATCGACCTCGGTCTTGCCAAGCATATTTGTTAGTGATGCTGGGGGAGAACTAGAGCTAATGAAACAGAGGGCATCTCTTTATCTGGTTACTCCGGAATAAGTGGTAGAAACAAACTTCACGCTGGAACTGCCACCAGAGGACTTGACACCCCCAGAGCTGGATCCCCGGCCTCCTATGGAGCCTCCAGAGCTCCCGCCGCCAGAGCCCCGGCCGCCAGAGCTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCATAGCTGCTACCTCCAGAGCCGTAGCCACCGCCGCCACCTCCTCGGCTGCCACCTCCACTGATGGTGGTGTGGCTTGTGCTCACAGCTGCAAGAGGAAGCTCAGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGTAGGTGGCAATCTCCAGATCCAGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTT
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AAAGAGAAGGGAAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGCCTGGTTGGCCTCTGCATTTTTCTCATGTTTGTGTGCATGACTTTCCCATATGCCATGTGGCTCTAGTGTCTTCTTTTACCTCACAAAACACCCATCCAGGTTAGACAGTGCCGTAAACAAGGGCGATCGAGACATGGAGAATTTCAAATGCAGTTTATTGCAGCAAAACAAGGAAATGGGGAGTTTAAGACCTCTCCACAAAAGAAAAACAACTTGCTTACACCTTATGTACAAAACCAAAACAGCACAGAGATAAGATGCTAAGGAGCTGTCCACACCCTGGGTCTAACTGGTCCTACTCTGGCTGGCTTAAGGAGGTGCTTTGAAATGTCATGTGGGTGGTGGTCACTGCTGAACTGTTTCTCAGGGAAAGAACAAAGCAGGGTCATAGCCAGGGGACTGAGATTGCCACTGATCTGAAAACTTCATTGGGAAACAGCAGAAAAGAAAGAGCTGGGGGAATAGGATGAGCTAGTGTAACTAACCATAGCTCTTTTCTCCGGTAAGGCTGGGACAAATCGACCTCGGTCTTGCCAAGCATATTTGTTAGTGATGCTGGGGGAGAACTAGAGCTAATGAAACAGAGGGCATCTCTTTATCTGGTTACTCCGGAATAAGTGGTAGAAACAAACTTCACGCTGGAACTGCCACCAGAGGACTTGACACCCCCAGAGCTGGATCCCCGGCCTCCTATGGAGCCTCCAGAGCTCCCGCCGCCAGAGCCCCGGCCGCCAGAGCTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCATAGCTGCTACCTCCAGAGCCGTAGCCACCGCCGCCACCTCCTCGGCTGCCACCTCCACTGATGGTGGTGTGGCTTGTGCTCACAGCTGCAAGAGGAAGCTCAGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGCAGGTGGCAATCTCCAGATCCAGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTT
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Task1_train_17931
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The gene KRT1 (keratin 1) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Ichthyosis, annular epidermolytic, 2
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GAAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGCCTGGTTGGCCTCTGCATTTTTCTCATGTTTGTGTGCATGACTTTCCCATATGCCATGTGGCTCTAGTGTCTTCTTTTACCTCACAAAACACCCATCCAGGTTAGACAGTGCCGTAAACAAGGGCGATCGAGACATGGAGAATTTCAAATGCAGTTTATTGCAGCAAAACAAGGAAATGGGGAGTTTAAGACCTCTCCACAAAAGAAAAACAACTTGCTTACACCTTATGTACAAAACCAAAACAGCACAGAGATAAGATGCTAAGGAGCTGTCCACACCCTGGGTCTAACTGGTCCTACTCTGGCTGGCTTAAGGAGGTGCTTTGAAATGTCATGTGGGTGGTGGTCACTGCTGAACTGTTTCTCAGGGAAAGAACAAAGCAGGGTCATAGCCAGGGGACTGAGATTGCCACTGATCTGAAAACTTCATTGGGAAACAGCAGAAAAGAAAGAGCTGGGGGAATAGGATGAGCTAGTGTAACTAACCATAGCTCTTTTCTCCGGTAAGGCTGGGACAAATCGACCTCGGTCTTGCCAAGCATATTTGTTAGTGATGCTGGGGGAGAACTAGAGCTAATGAAACAGAGGGCATCTCTTTATCTGGTTACTCCGGAATAAGTGGTAGAAACAAACTTCACGCTGGAACTGCCACCAGAGGACTTGACACCCCCAGAGCTGGATCCCCGGCCTCCTATGGAGCCTCCAGAGCTCCCGCCGCCAGAGCCCCGGCCGCCAGAGCTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCATAGCTGCTACCTCCAGAGCCGTAGCCACCGCCGCCACCTCCTCGGCTGCCACCTCCACTGATGGTGGTGTGGCTTGTGCTCACAGCTGCAAGAGGAAGCTCAGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGTAGGTGGCAATCTCCAGATCCAGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGC
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GAAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGCCTGGTTGGCCTCTGCATTTTTCTCATGTTTGTGTGCATGACTTTCCCATATGCCATGTGGCTCTAGTGTCTTCTTTTACCTCACAAAACACCCATCCAGGTTAGACAGTGCCGTAAACAAGGGCGATCGAGACATGGAGAATTTCAAATGCAGTTTATTGCAGCAAAACAAGGAAATGGGGAGTTTAAGACCTCTCCACAAAAGAAAAACAACTTGCTTACACCTTATGTACAAAACCAAAACAGCACAGAGATAAGATGCTAAGGAGCTGTCCACACCCTGGGTCTAACTGGTCCTACTCTGGCTGGCTTAAGGAGGTGCTTTGAAATGTCATGTGGGTGGTGGTCACTGCTGAACTGTTTCTCAGGGAAAGAACAAAGCAGGGTCATAGCCAGGGGACTGAGATTGCCACTGATCTGAAAACTTCATTGGGAAACAGCAGAAAAGAAAGAGCTGGGGGAATAGGATGAGCTAGTGTAACTAACCATAGCTCTTTTCTCCGGTAAGGCTGGGACAAATCGACCTCGGTCTTGCCAAGCATATTTGTTAGTGATGCTGGGGGAGAACTAGAGCTAATGAAACAGAGGGCATCTCTTTATCTGGTTACTCCGGAATAAGTGGTAGAAACAAACTTCACGCTGGAACTGCCACCAGAGGACTTGACACCCCCAGAGCTGGATCCCCGGCCTCCTATGGAGCCTCCAGAGCTCCCGCCGCCAGAGCCCCGGCCGCCAGAGCTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCATAGCTGCTACCTCCAGAGCCGTAGCCACCGCCGCCACCTCCTCGGCTGCCACCTCCACTGATGGTGGTGTGGCTTGTGCTCACAGCTGCAAGAGGAAGCTCAGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGTAGGTGGCAAACTCCAGATCCAGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGC
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Task1_train_17932
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A mutation on Chromosome 12 affecting KRT1 (keratin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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AAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGCCTGGTTGGCCTCTGCATTTTTCTCATGTTTGTGTGCATGACTTTCCCATATGCCATGTGGCTCTAGTGTCTTCTTTTACCTCACAAAACACCCATCCAGGTTAGACAGTGCCGTAAACAAGGGCGATCGAGACATGGAGAATTTCAAATGCAGTTTATTGCAGCAAAACAAGGAAATGGGGAGTTTAAGACCTCTCCACAAAAGAAAAACAACTTGCTTACACCTTATGTACAAAACCAAAACAGCACAGAGATAAGATGCTAAGGAGCTGTCCACACCCTGGGTCTAACTGGTCCTACTCTGGCTGGCTTAAGGAGGTGCTTTGAAATGTCATGTGGGTGGTGGTCACTGCTGAACTGTTTCTCAGGGAAAGAACAAAGCAGGGTCATAGCCAGGGGACTGAGATTGCCACTGATCTGAAAACTTCATTGGGAAACAGCAGAAAAGAAAGAGCTGGGGGAATAGGATGAGCTAGTGTAACTAACCATAGCTCTTTTCTCCGGTAAGGCTGGGACAAATCGACCTCGGTCTTGCCAAGCATATTTGTTAGTGATGCTGGGGGAGAACTAGAGCTAATGAAACAGAGGGCATCTCTTTATCTGGTTACTCCGGAATAAGTGGTAGAAACAAACTTCACGCTGGAACTGCCACCAGAGGACTTGACACCCCCAGAGCTGGATCCCCGGCCTCCTATGGAGCCTCCAGAGCTCCCGCCGCCAGAGCCCCGGCCGCCAGAGCTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCATAGCTGCTACCTCCAGAGCCGTAGCCACCGCCGCCACCTCCTCGGCTGCCACCTCCACTGATGGTGGTGTGGCTTGTGCTCACAGCTGCAAGAGGAAGCTCAGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGTAGGTGGCAATCTCCAGATCCAGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCA
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AAATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGCCTGGTTGGCCTCTGCATTTTTCTCATGTTTGTGTGCATGACTTTCCCATATGCCATGTGGCTCTAGTGTCTTCTTTTACCTCACAAAACACCCATCCAGGTTAGACAGTGCCGTAAACAAGGGCGATCGAGACATGGAGAATTTCAAATGCAGTTTATTGCAGCAAAACAAGGAAATGGGGAGTTTAAGACCTCTCCACAAAAGAAAAACAACTTGCTTACACCTTATGTACAAAACCAAAACAGCACAGAGATAAGATGCTAAGGAGCTGTCCACACCCTGGGTCTAACTGGTCCTACTCTGGCTGGCTTAAGGAGGTGCTTTGAAATGTCATGTGGGTGGTGGTCACTGCTGAACTGTTTCTCAGGGAAAGAACAAAGCAGGGTCATAGCCAGGGGACTGAGATTGCCACTGATCTGAAAACTTCATTGGGAAACAGCAGAAAAGAAAGAGCTGGGGGAATAGGATGAGCTAGTGTAACTAACCATAGCTCTTTTCTCCGGTAAGGCTGGGACAAATCGACCTCGGTCTTGCCAAGCATATTTGTTAGTGATGCTGGGGGAGAACTAGAGCTAATGAAACAGAGGGCATCTCTTTATCTGGTTACTCCGGAATAAGTGGTAGAAACAAACTTCACGCTGGAACTGCCACCAGAGGACTTGACACCCCCAGAGCTGGATCCCCGGCCTCCTATGGAGCCTCCAGAGCTCCCGCCGCCAGAGCCCCGGCCGCCAGAGCTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCATAGCTGCTACCTCCAGAGCCGTAGCCACCGCCGCCACCTCCTCGGCTGCCACCTCCACTGATGGTGGTGTGGCTTGTGCTCACAGCTGCAAGAGGAAGCTCAGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGTAGGTGGCAATGTCCAGATCCAGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCA
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Task1_train_17933
|
Mutation context: Chromosome 12, Gene KRT1 (keratin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Epidermolytic hyperkeratosis 1
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AATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGCCTGGTTGGCCTCTGCATTTTTCTCATGTTTGTGTGCATGACTTTCCCATATGCCATGTGGCTCTAGTGTCTTCTTTTACCTCACAAAACACCCATCCAGGTTAGACAGTGCCGTAAACAAGGGCGATCGAGACATGGAGAATTTCAAATGCAGTTTATTGCAGCAAAACAAGGAAATGGGGAGTTTAAGACCTCTCCACAAAAGAAAAACAACTTGCTTACACCTTATGTACAAAACCAAAACAGCACAGAGATAAGATGCTAAGGAGCTGTCCACACCCTGGGTCTAACTGGTCCTACTCTGGCTGGCTTAAGGAGGTGCTTTGAAATGTCATGTGGGTGGTGGTCACTGCTGAACTGTTTCTCAGGGAAAGAACAAAGCAGGGTCATAGCCAGGGGACTGAGATTGCCACTGATCTGAAAACTTCATTGGGAAACAGCAGAAAAGAAAGAGCTGGGGGAATAGGATGAGCTAGTGTAACTAACCATAGCTCTTTTCTCCGGTAAGGCTGGGACAAATCGACCTCGGTCTTGCCAAGCATATTTGTTAGTGATGCTGGGGGAGAACTAGAGCTAATGAAACAGAGGGCATCTCTTTATCTGGTTACTCCGGAATAAGTGGTAGAAACAAACTTCACGCTGGAACTGCCACCAGAGGACTTGACACCCCCAGAGCTGGATCCCCGGCCTCCTATGGAGCCTCCAGAGCTCCCGCCGCCAGAGCCCCGGCCGCCAGAGCTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCATAGCTGCTACCTCCAGAGCCGTAGCCACCGCCGCCACCTCCTCGGCTGCCACCTCCACTGATGGTGGTGTGGCTTGTGCTCACAGCTGCAAGAGGAAGCTCAGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGTAGGTGGCAATCTCCAGATCCAGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAA
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AATGGAATATCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGCCTGGTTGGCCTCTGCATTTTTCTCATGTTTGTGTGCATGACTTTCCCATATGCCATGTGGCTCTAGTGTCTTCTTTTACCTCACAAAACACCCATCCAGGTTAGACAGTGCCGTAAACAAGGGCGATCGAGACATGGAGAATTTCAAATGCAGTTTATTGCAGCAAAACAAGGAAATGGGGAGTTTAAGACCTCTCCACAAAAGAAAAACAACTTGCTTACACCTTATGTACAAAACCAAAACAGCACAGAGATAAGATGCTAAGGAGCTGTCCACACCCTGGGTCTAACTGGTCCTACTCTGGCTGGCTTAAGGAGGTGCTTTGAAATGTCATGTGGGTGGTGGTCACTGCTGAACTGTTTCTCAGGGAAAGAACAAAGCAGGGTCATAGCCAGGGGACTGAGATTGCCACTGATCTGAAAACTTCATTGGGAAACAGCAGAAAAGAAAGAGCTGGGGGAATAGGATGAGCTAGTGTAACTAACCATAGCTCTTTTCTCCGGTAAGGCTGGGACAAATCGACCTCGGTCTTGCCAAGCATATTTGTTAGTGATGCTGGGGGAGAACTAGAGCTAATGAAACAGAGGGCATCTCTTTATCTGGTTACTCCGGAATAAGTGGTAGAAACAAACTTCACGCTGGAACTGCCACCAGAGGACTTGACACCCCCAGAGCTGGATCCCCGGCCTCCTATGGAGCCTCCAGAGCTCCCGCCGCCAGAGCCCCGGCCGCCAGAGCTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCATAGCTGCTACCTCCAGAGCCGTAGCCACCGCCGCCACCTCCTCGGCTGCCACCTCCACTGATGGTGGTGTGGCTTGTGCTCACAGCTGCAAGAGGAAGCTCAGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGTAGGTGGCAATCCCCAGATCCAGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAA
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Task1_train_17934
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This sequence variant lies in KRT1 (keratin 1) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; KRT1-related disorder
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TCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGCCTGGTTGGCCTCTGCATTTTTCTCATGTTTGTGTGCATGACTTTCCCATATGCCATGTGGCTCTAGTGTCTTCTTTTACCTCACAAAACACCCATCCAGGTTAGACAGTGCCGTAAACAAGGGCGATCGAGACATGGAGAATTTCAAATGCAGTTTATTGCAGCAAAACAAGGAAATGGGGAGTTTAAGACCTCTCCACAAAAGAAAAACAACTTGCTTACACCTTATGTACAAAACCAAAACAGCACAGAGATAAGATGCTAAGGAGCTGTCCACACCCTGGGTCTAACTGGTCCTACTCTGGCTGGCTTAAGGAGGTGCTTTGAAATGTCATGTGGGTGGTGGTCACTGCTGAACTGTTTCTCAGGGAAAGAACAAAGCAGGGTCATAGCCAGGGGACTGAGATTGCCACTGATCTGAAAACTTCATTGGGAAACAGCAGAAAAGAAAGAGCTGGGGGAATAGGATGAGCTAGTGTAACTAACCATAGCTCTTTTCTCCGGTAAGGCTGGGACAAATCGACCTCGGTCTTGCCAAGCATATTTGTTAGTGATGCTGGGGGAGAACTAGAGCTAATGAAACAGAGGGCATCTCTTTATCTGGTTACTCCGGAATAAGTGGTAGAAACAAACTTCACGCTGGAACTGCCACCAGAGGACTTGACACCCCCAGAGCTGGATCCCCGGCCTCCTATGGAGCCTCCAGAGCTCCCGCCGCCAGAGCCCCGGCCGCCAGAGCTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCATAGCTGCTACCTCCAGAGCCGTAGCCACCGCCGCCACCTCCTCGGCTGCCACCTCCACTGATGGTGGTGTGGCTTGTGCTCACAGCTGCAAGAGGAAGCTCAGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGTAGGTGGCAATCTCCAGATCCAGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCAC
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TCCAACTCTCTATTACCACTCTTAGTTCTTGAACTCCCCAGGCCAAAGTCTGTATTCTGGCTCCAGTAACTGCTGACCCTATATTACTCATGCCCCTCCTTACTGGCTGTTCCACGTGAAGAATTACTTTTTCATGCAATACTTTCCCTTCTTCTCAATGCCACACCTCTTCCTCCCAACCTGCTTGCTCACTGCCCTTTTCAAGAAAGCCTTCTCAAATGAACAAAACCTGTCACCCGGTCTCTCCATTTCTCCATGACATCCCCACCATCTGGGAAAGTGCTTGCTCTCTCTGTGATTCCAGTCTGGTGAAATGTTGCCTGGTTGGCCTCTGCATTTTTCTCATGTTTGTGTGCATGACTTTCCCATATGCCATGTGGCTCTAGTGTCTTCTTTTACCTCACAAAACACCCATCCAGGTTAGACAGTGCCGTAAACAAGGGCGATCGAGACATGGAGAATTTCAAATGCAGTTTATTGCAGCAAAACAAGGAAATGGGGAGTTTAAGACCTCTCCACAAAAGAAAAACAACTTGCTTACACCTTATGTACAAAACCAAAACAGCACAGAGATAAGATGCTAAGGAGCTGTCCACACCCTGGGTCTAACTGGTCCTACTCTGGCTGGCTTAAGGAGGTGCTTTGAAATGTCATGTGGGTGGTGGTCACTGCTGAACTGTTTCTCAGGGAAAGAACAAAGCAGGGTCATAGCCAGGGGACTGAGATTGCCACTGATCTGAAAACTTCATTGGGAAACAGCAGAAAAGAAAGAGCTGGGGGAATAGGATGAGCTAGTGTAACTAACCATAGCTCTTTTCTCCGGTAAGGCTGGGACAAATCGACCTCGGTCTTGCCAAGCATATTTGTTAGTGATGCTGGGGGAGAACTAGAGCTAATGAAACAGAGGGCATCTCTTTATCTGGTTACTCCGGAATAAGTGGTAGAAACAAACTTCACGCTGGAACTGCCACCAGAGGACTTGACACCCCCAGAGCTGGATCCCCGGCCTCCTATGGAGCCTCCAGAGCTCCCGCCGCCAGAGCCCCGGCCGCCAGAGCTGCCGCCGCCGCCGCCTCCAGAGCCACCTCTGTAGCCCCCACTGCTGCTTCCGGAGCCGTAGCTGCCATGGCCGCCGCCGCCACCTCCAGAGCCATAGCTGCCACCTCCGGAGCCGTAGCTGCTACCTCCGGAGCCATAGCTGCCACGGCCGCCGCCGCCGCCACCTCCAGAACCATAGCTACCACCTCCGGAGCCATAGCTGCTACCTCCAGAGCCGTAGCCACCGCCGCCACCTCCTCGGCTGCCACCTCCACTGATGGTGGTGTGGCTTGTGCTCACAGCTGCAAGAGGAAGCTCAGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGTAGGTGGCAATCTCCAGATCCGGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCAC
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Task1_train_17935
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The gene KRT1 (keratin 1) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Epidermolytic ichthyosis
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AGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGTAGGTGGCAATCTCCAGATCCAGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCC
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AGTTATTTTCAACCTCAACTCCGTTTCCAGCCCAACAAAGCCTGCACATGCCCCTGAGAAATCGACTTGTACTTACACACACTCACGTTCGGGGCACATTCTCCAGACATCCTGTAGGAGAAAATAAGAAAATTCCTCAGGACACTCCAGCTTCCCAAACCGCTTCCCCATTCCCCGCTCCACCACCTTGAAGACTTTCCCCATCTGGGTCTTCTCCAATGCACTTAATCTGAAACTTAATCCAATCCCCTCTGGCCTCCCAGACCTGTCATTTTTTCTCAGCAAGAGTACAAACACGGAGAAATTCCCATATAAACGAGACAAGAGCCTTGCAGCCAATGAAGGCCCCCTCTAAAGATGCCGACTTTAGGCCAGCTGCCATCTGAGGCAGCCCAGATAAAGAATAATTTGCTCCACCTCAAAGCTCTTTCTAGATATGTTACAGCCCTAGAAGAAAAAAATAAACAGCTTGGGACTCCAGCTCCCAAAGTAAAACTAGGTCCTTCCTCCTGCTCCGTGTACTTTTCATTTCCCCATACCCAGCACAAGCTGCAATCAGATGGCTGCATCTTCAACAACAATCAGCTTGCAAGGAAGGAAGACCATGAGAAGAGGTTCGACTCCCAGCGTCCCTTCCTCACCTGCTTTCTTCTCCCTCCAGGAGGGTCCTGTAGGTGGCAATCTCCAGATCCAGGGCCAGCTTTGTGTTCATCAGCTCCTGGTAGTCGCGCAGCAGGCGGGCCAGGTCTTCCTTGGCCTGCTGCAGGGCATCCTCCAGGTCATTCAGCTTGTTCTTGGCATCCTTGAGGGCATTCTCGCCACGCTGCTCTGCATCACTGATGGACTGCTGCAAGTTGGAGATCTGAAAAAGAATATGACACCCTCTCATAATATGCATTCCCCACTAGGCCTCCTCATCCCAATTGGTCTCCCCACTCCAGTGAGGCCAATAATGAGTCCAACAGAACCACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTGCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCC
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Task1_train_17936
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Mutation context: Chromosome 12, Gene KRT1 (keratin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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CACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTT
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CACTTGGCCTTAAGTCATCTCACACCCACCTCCAGATAACACATCACCATGTTGACTTCCTTAAAAGACCTTAGGGATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATAACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTT
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Task1_train_17937
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This mutation is located in gene KRT1 (keratin 1) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Epidermolytic ichthyosis
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GATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCA
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GATAACTCAACAGCCTCTCTTGGCCCTGAGTCAAGGCTCCTACAACCCTTACAGACTTGACATTCTTCTAAACACCTACTCTAAAACCTCCTGGCTGCCCTTCCTCTCACTCCCCAACTCTTAAGTCCACTTTGGGTCATAGGCTAGATCACTCACATTGACCATCCCATCTTTCTCTACTAGGCCATTCTCACAGATTTCCCTAAAGAGAACCCAGCATGATGGCTGCATTCTGGAAACTAGCATAGTCACAAAAGGAACCAGGGATAATAATGTAGCCTTGGGATGAATTGCAAGATTCAAAACTAGGAAAGCACTCGCCCTTTACCTGAGGGTTACCCCCATTCCATACAGCTGAGTGGTAGAAGGAGAAAGCACATACCTGCTTCTTGACATTGTCGATTTCAGATCTAAGTCTCTGGATCACACGATTCAGCTCAGAAATTTCTATCTTTGAATTTCTCACACTATCCCCATGTCTGCCAGCAGTGATCTGCAGCTCTTCATACTAAAGATGGTAGATAGCGTTTGTTAAATGTAGGCAGAACTCAGCATGGCACAGGCACACATACATGAGATAACACAGGATAGCAAGACAAGCCATTTCAGGGAAACTGGCTAGGCTTTCAGCCCACTCACCTTGCTCTGGTACAAGGACTCGGCCTCAGCTTTGCTCTTCTGGGCTATATCCTCGTACTGGGCCTTGACCTCAGCAATGATGCTGTCCAGGTCGAGACTGCGGTTGTTGTCCATAGAGAGGATGACATTAGTTTCACTGATTTGAGTCTGCATCTGAGACAACTCCTGCAAGACATAATAGGTTAGTGACTCTTACAGCACTAAAACAAAAAACAACTTAGACAGAGAAAGCAGTCAGAAAATAAAAGATAAATATCTATTCTTCTGAATCGTTGTGGGTTCAGGCTTAAAAACTCTCCATTTAGATAAACTTGGTTGAAACTGGAAGACTTACTGCTTGGTAGAGTGCTGTAAGGAAATCAATTTCCTGCTGCAAGTTGTCAAGTTTGGCCTGAAGGTCCACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCGGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCA
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Task1_train_17938
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Gene KRT1 (keratin 1), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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ACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGA
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ACCTTGGTCATATAAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCATTGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGA
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Task1_train_17939
|
A variant on Chromosome 12 in gene KRT1 (keratin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; not provided
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AAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACA
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AAGCACCATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAATTTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACA
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Task1_train_17940
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A variant was discovered in gene KRT1 (keratin 1), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Epidermolytic ichthyosis
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ATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTA
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ATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTTTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTA
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Task1_train_17941
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Located on Chromosome 12, this mutation impacts KRT1 (keratin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; KRT1-related disorder
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ATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTA
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ATCCACATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTTTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTA
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Task1_train_17942
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This variant impacts the gene KRT1 (keratin 1) on Chromosome 12. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Epidermolytic hyperkeratosis 1
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CATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTAGTGAG
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CATCCTAGAGGAACAAGGGACATCATGAAGGCACATTCTCTCCAGGGCAGGTCCCTCTCATTACCTGTGAGGGGATTCTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAATGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTAGTGAG
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Task1_train_17943
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Located on Chromosome 12, this mutation impacts KRT1 (keratin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; not provided
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CTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTAGTGAGGAGATTTTACTTCCATCCAAGTGCAAGAGTACCCAGCATGCATTGCAATGGACCAGGAAACCTCAGGGGTCTTCCTG
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CTCCAAGCAAAAAAAGGAGCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAGGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTAGTGAGGAGATTTTACTTCCATCCAAGTGCAAGAGTACCCAGCATGCATTGCAATGGACCAGGAAACCTCAGGGGTCTTCCTG
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Task1_train_17944
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This genomic variant is located on Chromosome 12, within the KRT1 (keratin 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Epidermolytic ichthyosis
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GCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTAGTGAGGAGATTTTACTTCCATCCAAGTGCAAGAGTACCCAGCATGCATTGCAATGGACCAGGAAACCTCAGGGGTCTTCCTGGAGAGCAGCACTTGATCA
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GCTTTGGGTCTACTCCACTCCTTTTTGCCCCAGGTAAATCACAGTTCCCTAACTGTCCCACCCCCGGATAGCACCATCAAGGGAGTGTGCCTGGCTTGCTGAGAATCTGCCACTCCACTTACTATGTAAGGTGCTGGGAAATATGGAGAAGCCAAGTGCCTGGATCAGTCCAGGTCCATGATGATGTGAAAATATAGCCCCACTCCATATACTCCCCAGGTCTACTACCTGGCTCTCCATATCATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGTCTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTAGTGAGGAGATTTTACTTCCATCCAAGTGCAAGAGTACCCAGCATGCATTGCAATGGACCAGGAAACCTCAGGGGTCTTCCTGGAGAGCAGCACTTGATCA
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Task1_train_17945
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Assess the clinical impact of this variant on gene KRT1 (keratin 1), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Diffuse nonepidermolytic palmoplantar keratoderma
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ATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTTTACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTAGTGAGGAGATTTTACTTCCATCCAAGTGCAAGAGTACCCAGCATGCATTGCAATGGACCAGGAAACCTCAGGGGTCTTCCTGGAGAGCAGCACTTGATCAATATCAGTGGATAATAGTGGCACTGAGATCTGGACACACTAGAAGCCCAAGCAGACTTTCATTCGAAGACTTCTTAGAAGCCTGGCATGGTCCCCGGGCCTGCACATAAACACAGAATTGAAGACTCAAAGGGGAGAAGCCAGCTCTAACTTCAGCTGGCTCCAAGTAACTCTGTAAGTGGCAAACCATAGATGTACATGGGAAGTCTCCACTATGGTGTGCAAGATCTATGGGAGAAAGGGA
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ATGGCTGCTTTCTGCTTAGTAATTGGAGACCCTCTTCCCTTATTTATTTCAAATGTGAGTTCCGTCCTACAGAATTTGCTTACCTTCTTGATGGTCACAAATTCATTCTCTGCATTTGTCCGCTTGTTGATTTCATCCTCATACCTGCAGGAAAGCAGAAACAATTAGGAGATTCAGAGGTGGTAAGACCTGAAGTCCAGCATTCTAAACTAAAGGTGGCATTGCCTATCACTGCCTTTCTATTATGAACCTAGGACATATTGGCCACTACTTTCTACTGAGCAATAAAACCACTAGACTATTTCCATCTCCTGAGAAAATGAAGATTTCTGAAAATGTCAAACTGATGTGCCTCTAACCTAAGAAAAGACATAGCTACATGCTGCTTCATGATCTTAGCTTATTACTTTCTGGAACTCTTTTACAGCAAAAGTTAAGAACTGCCCAGACAGGGTCCCTTACTTGTTCCGGTAATCCTCCACCATGTCCTGCATGTTCTTCAGTTCCGAATCCAACCGAGATTGATCACTCTTCAGTTGGTCCACTCTCCTTCGGAGATTGTTGATGAATGACTCAAAGTAGGGCTCTAAATTATGGGTTCTAGTGGAGGTATCTACCTGCTGCAGCAGCTCCCATTTTGTTTGCAGTACCTGGTTCTGCTGCTCCAGGAACCTCACCTAAAAACACAAGACCCCTTTACTCCTGATGCATAAATGGAGTCTCATAGCCATGGAGAACTGTGCCTCATTTGGAAAAGAACCTCAATTCCTATCTTCTGACCATGACAGAGAAATAGGAAGAAGATGATCAAGTTAATATCATCTGCATAATAAAACCCAACTTGTTAATTCAGAGAGGGCTTGGAAGGGAGTAACTAAACAAATACCAATAGCAAAGCGCATACAGAATTATTGCAATTATGTTTTGAAATAGGTGCATGGTATTTAAGAGATTTGCCTTCCAAAATTTTGTTAGGTATATTACCATAAAAACTGGTTTGCATCCCCAGGACACACACACATTTCAAAAGTATATCAGGAAAATTCAAAATTGGATTTGAAATTTGTTGTGGATAACCTTGGATTGGCACTATTAATGATTAAGCAAAAAATTAAAAAAATGGTTTATCTGAGTTTTTTAGAGCTGATTTTTGGAGATATTAGTATAAAAAAACTCTAGCCTCATCCAGTACCAATGTAAAATTATTAGAAGGCAGAGCTCCCCTCTGACAGCAAAAGATGTTTGGCACTGACTGACCACATGTTTTCTGCTACAATAACACTCTATACTATGTTCACACTCAACTCCCTTTCTATGGTTAGGAAGACCTTTCCAGGGTTCTCACTTGCACCCTGGAAAGTTCAGTTAGCCCCATTTCTATTATCTTCATTCAACAGATATGAGTCCCAATTCCGCTCAAGAGCTGAATAAAAAGCACTTAAATGTTAATGTCACACTGACCCACCTTTAGGTCGACCACGAACCCTTTGTCAAAGAGAGAGTCATTAACACCATTCACAAGCATACATCTAACATATCTCCTAGGAGACCATTCCACAAAACATCCTTTTAATCATGTAAACATGGAAACTTGAGGTTCAAACCTACTGTGTTTTGACTGCACCAATCCCAAGTGGACCAGCGGCAGCCCTACCAGTGCAATGAGAGAGAAACTCACCTTGTCAATGAAGGAGGCAAATTGGTTGTTGAGTGACTTGATTTGCTCCCTTTCTCGAGACTTCACCTTTTGGATCTCAGGGTCAATCTCCACATTGAGGGGCTGAAGAAGGCTCTGGTTGATAGTGACTTCTTGTATGCCACCAGGAGGGCAGACAGGACCATAACCACCCCCATATCCACCACCCCCAAAGCCACCTCCACCAAAACCACCACCACCACTGCCAAAACCACCAAAGCCACCACCCCCAATGCCACCTCCACCAAAGCCACCACCACCAAAGCCACCACCACCAAAGCCACCACCACCATAACCACCACCAAAGCCACTACCACGTCCACCTCCTCTAGCCACACTTATGGAGATGCTTATACTGCCACCAAGGTTAACAAGACTCCGACTTCCAAATCCACCACCAGCACCAAAGCTACCACCACCACCACCACAGCTTGAAAATCTCCCACCACCTCCTCCACTGCGGCGTGTGGAGCTGCTGGTGGTCCTGCGCTGGTAGTTGATGATCCCAGCAGAGCCAGAGCTGAAGCCCCCTCCACTTCGGTACCCAGACCTGGAACTAAACTGTCGACTCATGTTGACTTAGAGAAAAGTAGGAGCAAGGTAGAGTAAGGGAAGGAGCTAAACACTCCTCTACCCCAAGCATAGAGACTTCCCCTTATATACAGGGAAGAAATTGGGCTTGGTCTTCTAGAGTCAGCGGAGATGCAGTGCCTGTCAAGGGTTTGGCTTGCCTGCAGCCATACAAGATTTTTACGAGCCTCAACAATACGATAAACACTACACACCTAGCTCCCAGGATGGGCTCTCAAAATTGCTGTGCATGCAAGATTGGTTCATGTGGTAATTATTTTATCACACAAGATCTTCCTTCAAGCATTTGTGGCTTTGGGAAAACAGGACCCCACATCTGATACCTGGTGTTTCTTGGTAGGATTTCATAACCCCCATCAAAAAGGCATGAAAGTTTCTATTCTCACCTTGCCTTTGTGAGCTACCAAGCACACTCTCTTACCATGCACAGCAGGTGCAATTCCCCGTGCTTGGATCTCAGAAGGAGCTCTCTGGCCCATTTCTAAGATCTTCTTTCCAAACTCCAGAGCTCACTCAGTTACAACCTGACAAAGAGAAAGGGCTTTAATAACTAAAAAATTAAAAGGTCTTTCATAAATATAAGCTTTATAAATATACCACAGTGATTAATTAAAGGAAGAGAAGCTGTCATTGAACAAGATGGATGAGTGGGTGGTCTGGAAGAACCAGAAGGGAGAGACATTTTTTTTCTCTGTTTCTCAGTTATTCCTTTTCTTGTTTCTTTTCTTCAAAGATAGAGCAGGAGACAGACACCAGCAATAGAAAACAGGTAGCAATGGATAGCATGCAAACGCCCTTGAGTGAAAAAGCCCACAGAGCAGTGAGACGAGTAAATAGAAGCTCTAGGACATTTTGTAAAGCACAGGGGTGGAGGTGAGGCTTGATAGGTGATTCAAGCCTCACACTGGACTGCAAAGAGAGAGAGATAAATGCAGATTTGGAAGGGAAGACAATGAGAGGTGTCTGGAGAGCCTTATATGAGAAGTTTAAATTGTTTCTGGAGGTGATAATAATGATAATACCTAACATGTATCAAAAACTGACCATGTACCAGGCACTGTTCTACGTAGCACATATGTATTAACTTGCTTAATTTTCACAACTTTGAGATAGATGCTATTTTTCTCCCCATTTGTAAAATGAGGAAGCAGAGACACAGGGGTTGAATAACGTGATCAAGTCTACACAGTTGGTAAGTGGGGTGCCTGCGATTTGAAGCAAGAATACCTAGCTATCATGTGCAAGATCCTAAACAGCATGTTGTACGACAGCACAGCAGCCGAATTCAAGTCATTCTGCCTGCTGTGTGTAAAGCCAGACAGCACAGGAAGCGCCCCACCACAGAGAGCTCTGAGGGCAGAAGGCCTGTTTTATCACTCTGAGTCCTTGGCTCCTGGCACATGCAAGTCTTGGAAAATGTTTCTTCAATTCACACTGAGAAGGAGATTTTGGTGGCACAGAGTTTAGTGAGGAGATTTTACTTCCATCCAAGTGCAAGAGTACCCAGCATGCATTGCAATGGACCAGGAAACCTCAGGGGTCTTCCTGGAGAGCAGCACTTGATCAATATCAGTGGATAATAGTGGCACTGAGATCTGGACACACTAGAAGCCCAAGCAGACTTTCATTCGAAGACTTCTTAGAAGCCTGGCATGGTCCCCGGGCCTGCACATAAACACAGAATTGAAGACTCAAAGGGGAGAAGCCAGCTCTAACTTCAGCTGGCTCCAAGTAACTCTGTAAGTGGCAAACCATAGATGTACATGGGAAGTCTCCACTATGGTGTGCAAGATCTATGGGAGAAAGGGA
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Task1_train_17946
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A mutation on Chromosome 12 affecting KRT3, LOC126861527 (keratin 3| BRD4-independent group 4 enhancer GRCh37_chr12:53184490-53185689) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Corneal dystrophy, Meesmann, 2
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GTGTCTCAATGGAATGGTGTTCCTGGGTCAGACTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTCACAGAATAATGAACAACCGGATCCGCACCATGGACTGAGAAGACGAACTGCCTTTGTTTCAGAGGAAGAGTTCTCCAGCTGCTCTGTGGATCACAGAGCCCACATGGGAGAGGCAGAGGCAGGGAGGCCAGGGAGGTGACCAGGGAGCTCAGTGCCCTAAGGAGAAGGACATGGAGCGAATACTCAGAGGCCCGGAGTGAAACACAGTGCACTTTATTGGCGACAGACCGGAGGGGCGGAGGGGGCTGTGTGCTATATACATCAGAGCTGTAGTGAGCATCCCACCCAGGGAGGGGACTCCGGGGCAGCAGAAGGTGGCGGCCTAGGCCACACCTGGACAATCACAGGCACAGGCTGGAGCCGGAGAGAAGAGCCTGAAATTCTCGTGACTGGGCTTGGCCGGGGATCTGGAAGGAGGAGCAAGAGGCCACAAGCCTTCCAGCGCAGAGCCGCGTTCTTGGGGAGCATGGGGTGGCGCTGGGGGTGTTGCCAATATGGGGGCGTGGGGAGCGGAGGGGAGGCGCTGGAGTGGCTGCGATGCTGATGCGTGCTCTTTATCTGGAGTAGCGCTGGGAGGACTGGGAGGACTGGGAGAACTTGATGCTGCCGCCCCGGTTGCTGGCCGAGCTGAAGCCCCCGCCACTGACTCCATAGCGGGCGCCAGAGATGGAGCCAAAGCCGCTGCCACCGCTGAAACCGCTGCTGCCGCCGCCAAATCCACCGCCGATTCCACCGCCGCCTCCCCGGCCAAAGCCACTGCCTGAGCCGCCGCCCGCACTGAAGCCACCTCCTAAACCACCGCCCATGCCTCCGCCGTAACCTCCTCCATAGCCACCTGCGGAGGCGGAAGTCGTGCTGCTGCTGACCACGGCTGTGGGGGAGAGGACAGGACAGCGATCAGCGACGGCGCCCAGGCCAGCTGCTATGTTATTGTCAATGATCCACCGGGCCCACGACTATCCAGAGCTGATCAAGGCAGCTTTGCACAGGATGTTCACCACGAGCCGTTCCAAGGCCACTAGCTACTCACTCCCCTGCCGTTAAGCCATTATGAATTAGCCAGTGGTTCCTCCCACAGTACAGTCTTGATGACCCCCTTGGAGGGGATCTAGCGTCTGAATTTATCCTCCTATCAAGAGGCCCCCTGTTGGATATTCCACATTGGCCGTCGAAGCCTATTAAAAGTGCCCTGAACCCAGAACAATTACAAAAGCCAATCACTTCCCTCTCCTCTCCCAGAAAACCCCTCCAACTTCCGTAAAAATATGTTTAAATTAGTTGCTACTACCCTGGATTAGTGCAGATATTTCAGAATTAACTCTCATTTTCTTAGCTACTTTCGGTACTTACAGATGCTGACAGCACTCGGACACTCTCCAGACATCCTGTTTGAGAAAGCAAGAGAAAGTGGGCCCCGTCACAAAGCACATCACCAACAAGTCCACGGACCAAGGGCATGAATAGCAACCAGAGCTGAACAGAGAAGCCTGGCAAATCAGGTAAGCTTTCTCCACCCCTCTTTGGGCTGTAGCAAGGAGAGCCTGTGGGCACTGGTTGCATACGTGCCCTGGGAGGGAGTGGGCTGGTAGAGGCAAATGCTTCACCACAAGGCCTCTCTTTATACAGCAGGGCTCCATCCCCAGTTACTTGGTCACTTATCTGGCCCTTGGCCTATGACTTGAGCCAGGGGGTGTGGGAAGACGGGACTGGAGGCTCACCTGTACTCCTCGCCCTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTAGTCACGTAGCAGCCGCGCCAGGTCATCCTTCGCCTGCTGTAGAGCAGCCTGCAGCTCTTGGAGCTTGGCATTGGCATCCTTGAGGGCCATCTCTCCATGCTGCTCGGCCTCGGCAATGGCCGTCTGCAGGTTGGCATTCTGGGGCAAGGGAGGTAGGAGGAATGAGCTCAGTAAGAGGGCCCCAGGCCCTTCCTGACATGCAATGGATTATCCCATCTTAAAGTCAGGGAACATTCCTCCTCCCCTAGTGCCTCCATCTTGTCTCCATTTGTGGAGATACTGCCCTGTGGGTCAGCCAGCCTGAGATGACCTCCAGACGTCTATTCCAGGGGAGGAGTCCTGAGATCCTAGCCCCTGCCCCTCAGCAATCATCCCAGGTGCCAGCATCCATGACCATCCCACCTGCTTCTTGACACCCTCGATCTCTGCCCGCAGCCTCTGGATCATTCTGTTGAGCTCTATGATCTCGCTCTTGGTATTTCTTAGGTCATCCCCATGCCTGCCAGCCGTGGTCTGCAGCTCCCCCAACTGCAGAACAGAAGGGAAGATGGGGTATTCCTGCAGCTTTGCTTGACTTGTTTCTACACCTCCAACATCACCCACCAAACCTTCAGAAGCTCAGTAAGGCATTTGCTAAAATGATACTGCATTGTGTTTCAGCAGGGAAACCCCCAAGGCAGCAGGAAAGAGAACATCTGGGTTGTTGTGGTAGAAGATTTTCCTACCCTGTAGTTCCTGAGCAAGTTGGAGTCAGTCCCACATAGCAGGCAACCATCTCCCCCAGGGGCAAGACTTTCTGCAACTGAACCACCATTAGAAGGATGACTTCAGAGGGTAAAACCAAAAGGCATTCACCCAGTGACCACTGGGAACTCACTACCCAGCTGTCCAATAGGCCATGGCCTCTCTGAAACCTCCAGTGGATCCCGTAAGAGGTGACTAGCACCCACCTTGGTCTGGTACAGGGCCTCAGCTTCGGCCTTGCTTCTCTGAGCGATATCCTCATACTGTGCACGAACTTCAGCAATGATGCTGTCCAGGTCCAGGGAGCGATTATTGTCCATGGACAGCACCACAGATGTGTCACTGATGTGGCTCTGCATCTGAGATAGCTCCTGTCAACACAGAGGGAGCTTGTTCACTTTTGGGGTCCCTGTAACAAGCACACAGGGCCCTGAAAGACTCTTGATCAACAGTCTCATTCACTGATTCCTTGCTCCACATGTGTATCAGCCACACCCTGTCCGCAGCCACTCAGAGAACCCCATGTCTGCAGCTTATCCTGTGGAATCCCTTCCAAGGGTCCTCATCTCCAGGCTCATTCCAGATGTCTTCTGGGGCCTATATACCAAAATGCACCAGCCTCAAATCTGGAAACACCTCACTCTCCCTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAACAAACAGCAAACCACAACTGCAGCAAGAAAGAGCAGAGGGGACTGGTGCAGTGATGGTCCTTGTCTAAGACCAGTCTCCACTTGAACGGGCAATTTGTATCTCATTAGGATGGTCTAAGTTTAATCCTACTAAAAAACTAAAGACTGATGAACTAACTCTTTTAGGGATCTTCCAGACTAAGGTGCACCTGACTTCTGTTTATTGCTCCAAAGGCCTGAACTTGGCAGCTCTGTGGCAGTGGAGTGAGGAGATTCCCCCAACCCAGCCAGAAACCTGCAGCTGCAAGCCTCAGAAACCTCACACACAGCCCTTACCTTCTTCAGAGTCACAAATTCATTCTCAGCAGCTGTACGTTTATTGATTTCATCCTCATATCTGTGTGAATAAAAAAGAAACAGCTGAGTTTGGTTTTGAG
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GTGTCTCAATGGAATGGTGTTCCTGGGTCAGACTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTCACAGAATAATGAACAACCGGATCCGCACCATGGACTGAGAAGACGAACTGCCTTTGTTTCAGAGGAAGAGTTCTCCAGCTGCTCTGTGGATCACAGAGCCCACATGGGAGAGGCAGAGGCAGGGAGGCCAGGGAGGTGACCAGGGAGCTCAGTGCCCTAAGGAGAAGGACATGGAGCGAATACTCAGAGGCCCGGAGTGAAACACAGTGCACTTTATTGGCGACAGACCGGAGGGGCGGAGGGGGCTGTGTGCTATATACATCAGAGCTGTAGTGAGCATCCCACCCAGGGAGGGGACTCCGGGGCAGCAGAAGGTGGCGGCCTAGGCCACACCTGGACAATCACAGGCACAGGCTGGAGCCGGAGAGAAGAGCCTGAAATTCTCGTGACTGGGCTTGGCCGGGGATCTGGAAGGAGGAGCAAGAGGCCACAAGCCTTCCAGCGCAGAGCCGCGTTCTTGGGGAGCATGGGGTGGCGCTGGGGGTGTTGCCAATATGGGGGCGTGGGGAGCGGAGGGGAGGCGCTGGAGTGGCTGCGATGCTGATGCGTGCTCTTTATCTGGAGTAGCGCTGGGAGGACTGGGAGGACTGGGAGAACTTGATGCTGCCGCCCCGGTTGCTGGCCGAGCTGAAGCCCCCGCCACTGACTCCATAGCGGGCGCCAGAGATGGAGCCAAAGCCGCTGCCACCGCTGAAACCGCTGCTGCCGCCGCCAAATCCACCGCCGATTCCACCGCCGCCTCCCCGGCCAAAGCCACTGCCTGAGCCGCCGCCCGCACTGAAGCCACCTCCTAAACCACCGCCCATGCCTCCGCCGTAACCTCCTCCATAGCCACCTGCGGAGGCGGAAGTCGTGCTGCTGCTGACCACGGCTGTGGGGGAGAGGACAGGACAGCGATCAGCGACGGCGCCCAGGCCAGCTGCTATGTTATTGTCAATGATCCACCGGGCCCACGACTATCCAGAGCTGATCAAGGCAGCTTTGCACAGGATGTTCACCACGAGCCGTTCCAAGGCCACTAGCTACTCACTCCCCTGCCGTTAAGCCATTATGAATTAGCCAGTGGTTCCTCCCACAGTACAGTCTTGATGACCCCCTTGGAGGGGATCTAGCGTCTGAATTTATCCTCCTATCAAGAGGCCCCCTGTTGGATATTCCACATTGGCCGTCGAAGCCTATTAAAAGTGCCCTGAACCCAGAACAATTACAAAAGCCAATCACTTCCCTCTCCTCTCCCAGAAAACCCCTCCAACTTCCGTAAAAATATGTTTAAATTAGTTGCTACTACCCTGGATTAGTGCAGATATTTCAGAATTAACTCTCATTTTCTTAGCTACTTTCGGTACTTACAGATGCTGACAGCACTCGGACACTCTCCAGACATCCTGTTTGAGAAAGCAAGAGAAAGTGGGCCCCGTCACAAAGCACATCACCAACAAGTCCACGGACCAAGGGCATGAATAGCAACCAGAGCTGAACAGAGAAGCCTGGCAAATCAGGTAAGCTTTCTCCACCCCTCTTTGGGCTGTAGCAAGGAGAGCCTGTGGGCACTGGTTGCATACGTGCCCTGGGAGGGAGTGGGCTGGTAGAGGCAAATGCTTCACCACAAGGCCTCTCTTTATACAGCAGGGCTCCATCCCCAGTTACTTGGTCACTTATCTGGCCCTTGGCCTATGACTTGAGCCAGGGGGTGTGGGAAGACGGGACTGGAGGCTCACCTGTACTCCTTGCCCTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTAGTCACGTAGCAGCCGCGCCAGGTCATCCTTCGCCTGCTGTAGAGCAGCCTGCAGCTCTTGGAGCTTGGCATTGGCATCCTTGAGGGCCATCTCTCCATGCTGCTCGGCCTCGGCAATGGCCGTCTGCAGGTTGGCATTCTGGGGCAAGGGAGGTAGGAGGAATGAGCTCAGTAAGAGGGCCCCAGGCCCTTCCTGACATGCAATGGATTATCCCATCTTAAAGTCAGGGAACATTCCTCCTCCCCTAGTGCCTCCATCTTGTCTCCATTTGTGGAGATACTGCCCTGTGGGTCAGCCAGCCTGAGATGACCTCCAGACGTCTATTCCAGGGGAGGAGTCCTGAGATCCTAGCCCCTGCCCCTCAGCAATCATCCCAGGTGCCAGCATCCATGACCATCCCACCTGCTTCTTGACACCCTCGATCTCTGCCCGCAGCCTCTGGATCATTCTGTTGAGCTCTATGATCTCGCTCTTGGTATTTCTTAGGTCATCCCCATGCCTGCCAGCCGTGGTCTGCAGCTCCCCCAACTGCAGAACAGAAGGGAAGATGGGGTATTCCTGCAGCTTTGCTTGACTTGTTTCTACACCTCCAACATCACCCACCAAACCTTCAGAAGCTCAGTAAGGCATTTGCTAAAATGATACTGCATTGTGTTTCAGCAGGGAAACCCCCAAGGCAGCAGGAAAGAGAACATCTGGGTTGTTGTGGTAGAAGATTTTCCTACCCTGTAGTTCCTGAGCAAGTTGGAGTCAGTCCCACATAGCAGGCAACCATCTCCCCCAGGGGCAAGACTTTCTGCAACTGAACCACCATTAGAAGGATGACTTCAGAGGGTAAAACCAAAAGGCATTCACCCAGTGACCACTGGGAACTCACTACCCAGCTGTCCAATAGGCCATGGCCTCTCTGAAACCTCCAGTGGATCCCGTAAGAGGTGACTAGCACCCACCTTGGTCTGGTACAGGGCCTCAGCTTCGGCCTTGCTTCTCTGAGCGATATCCTCATACTGTGCACGAACTTCAGCAATGATGCTGTCCAGGTCCAGGGAGCGATTATTGTCCATGGACAGCACCACAGATGTGTCACTGATGTGGCTCTGCATCTGAGATAGCTCCTGTCAACACAGAGGGAGCTTGTTCACTTTTGGGGTCCCTGTAACAAGCACACAGGGCCCTGAAAGACTCTTGATCAACAGTCTCATTCACTGATTCCTTGCTCCACATGTGTATCAGCCACACCCTGTCCGCAGCCACTCAGAGAACCCCATGTCTGCAGCTTATCCTGTGGAATCCCTTCCAAGGGTCCTCATCTCCAGGCTCATTCCAGATGTCTTCTGGGGCCTATATACCAAAATGCACCAGCCTCAAATCTGGAAACACCTCACTCTCCCTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAACAAACAGCAAACCACAACTGCAGCAAGAAAGAGCAGAGGGGACTGGTGCAGTGATGGTCCTTGTCTAAGACCAGTCTCCACTTGAACGGGCAATTTGTATCTCATTAGGATGGTCTAAGTTTAATCCTACTAAAAAACTAAAGACTGATGAACTAACTCTTTTAGGGATCTTCCAGACTAAGGTGCACCTGACTTCTGTTTATTGCTCCAAAGGCCTGAACTTGGCAGCTCTGTGGCAGTGGAGTGAGGAGATTCCCCCAACCCAGCCAGAAACCTGCAGCTGCAAGCCTCAGAAACCTCACACACAGCCCTTACCTTCTTCAGAGTCACAAATTCATTCTCAGCAGCTGTACGTTTATTGATTTCATCCTCATATCTGTGTGAATAAAAAAGAAACAGCTGAGTTTGGTTTTGAG
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Task1_train_17947
|
A variant on Chromosome 12 in gene KRT3, LOC126861527 (keratin 3| BRD4-independent group 4 enhancer GRCh37_chr12:53184490-53185689) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Corneal dystrophy, Meesmann, 2
|
TGTTCCTGGGTCAGACTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTCACAGAATAATGAACAACCGGATCCGCACCATGGACTGAGAAGACGAACTGCCTTTGTTTCAGAGGAAGAGTTCTCCAGCTGCTCTGTGGATCACAGAGCCCACATGGGAGAGGCAGAGGCAGGGAGGCCAGGGAGGTGACCAGGGAGCTCAGTGCCCTAAGGAGAAGGACATGGAGCGAATACTCAGAGGCCCGGAGTGAAACACAGTGCACTTTATTGGCGACAGACCGGAGGGGCGGAGGGGGCTGTGTGCTATATACATCAGAGCTGTAGTGAGCATCCCACCCAGGGAGGGGACTCCGGGGCAGCAGAAGGTGGCGGCCTAGGCCACACCTGGACAATCACAGGCACAGGCTGGAGCCGGAGAGAAGAGCCTGAAATTCTCGTGACTGGGCTTGGCCGGGGATCTGGAAGGAGGAGCAAGAGGCCACAAGCCTTCCAGCGCAGAGCCGCGTTCTTGGGGAGCATGGGGTGGCGCTGGGGGTGTTGCCAATATGGGGGCGTGGGGAGCGGAGGGGAGGCGCTGGAGTGGCTGCGATGCTGATGCGTGCTCTTTATCTGGAGTAGCGCTGGGAGGACTGGGAGGACTGGGAGAACTTGATGCTGCCGCCCCGGTTGCTGGCCGAGCTGAAGCCCCCGCCACTGACTCCATAGCGGGCGCCAGAGATGGAGCCAAAGCCGCTGCCACCGCTGAAACCGCTGCTGCCGCCGCCAAATCCACCGCCGATTCCACCGCCGCCTCCCCGGCCAAAGCCACTGCCTGAGCCGCCGCCCGCACTGAAGCCACCTCCTAAACCACCGCCCATGCCTCCGCCGTAACCTCCTCCATAGCCACCTGCGGAGGCGGAAGTCGTGCTGCTGCTGACCACGGCTGTGGGGGAGAGGACAGGACAGCGATCAGCGACGGCGCCCAGGCCAGCTGCTATGTTATTGTCAATGATCCACCGGGCCCACGACTATCCAGAGCTGATCAAGGCAGCTTTGCACAGGATGTTCACCACGAGCCGTTCCAAGGCCACTAGCTACTCACTCCCCTGCCGTTAAGCCATTATGAATTAGCCAGTGGTTCCTCCCACAGTACAGTCTTGATGACCCCCTTGGAGGGGATCTAGCGTCTGAATTTATCCTCCTATCAAGAGGCCCCCTGTTGGATATTCCACATTGGCCGTCGAAGCCTATTAAAAGTGCCCTGAACCCAGAACAATTACAAAAGCCAATCACTTCCCTCTCCTCTCCCAGAAAACCCCTCCAACTTCCGTAAAAATATGTTTAAATTAGTTGCTACTACCCTGGATTAGTGCAGATATTTCAGAATTAACTCTCATTTTCTTAGCTACTTTCGGTACTTACAGATGCTGACAGCACTCGGACACTCTCCAGACATCCTGTTTGAGAAAGCAAGAGAAAGTGGGCCCCGTCACAAAGCACATCACCAACAAGTCCACGGACCAAGGGCATGAATAGCAACCAGAGCTGAACAGAGAAGCCTGGCAAATCAGGTAAGCTTTCTCCACCCCTCTTTGGGCTGTAGCAAGGAGAGCCTGTGGGCACTGGTTGCATACGTGCCCTGGGAGGGAGTGGGCTGGTAGAGGCAAATGCTTCACCACAAGGCCTCTCTTTATACAGCAGGGCTCCATCCCCAGTTACTTGGTCACTTATCTGGCCCTTGGCCTATGACTTGAGCCAGGGGGTGTGGGAAGACGGGACTGGAGGCTCACCTGTACTCCTCGCCCTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTAGTCACGTAGCAGCCGCGCCAGGTCATCCTTCGCCTGCTGTAGAGCAGCCTGCAGCTCTTGGAGCTTGGCATTGGCATCCTTGAGGGCCATCTCTCCATGCTGCTCGGCCTCGGCAATGGCCGTCTGCAGGTTGGCATTCTGGGGCAAGGGAGGTAGGAGGAATGAGCTCAGTAAGAGGGCCCCAGGCCCTTCCTGACATGCAATGGATTATCCCATCTTAAAGTCAGGGAACATTCCTCCTCCCCTAGTGCCTCCATCTTGTCTCCATTTGTGGAGATACTGCCCTGTGGGTCAGCCAGCCTGAGATGACCTCCAGACGTCTATTCCAGGGGAGGAGTCCTGAGATCCTAGCCCCTGCCCCTCAGCAATCATCCCAGGTGCCAGCATCCATGACCATCCCACCTGCTTCTTGACACCCTCGATCTCTGCCCGCAGCCTCTGGATCATTCTGTTGAGCTCTATGATCTCGCTCTTGGTATTTCTTAGGTCATCCCCATGCCTGCCAGCCGTGGTCTGCAGCTCCCCCAACTGCAGAACAGAAGGGAAGATGGGGTATTCCTGCAGCTTTGCTTGACTTGTTTCTACACCTCCAACATCACCCACCAAACCTTCAGAAGCTCAGTAAGGCATTTGCTAAAATGATACTGCATTGTGTTTCAGCAGGGAAACCCCCAAGGCAGCAGGAAAGAGAACATCTGGGTTGTTGTGGTAGAAGATTTTCCTACCCTGTAGTTCCTGAGCAAGTTGGAGTCAGTCCCACATAGCAGGCAACCATCTCCCCCAGGGGCAAGACTTTCTGCAACTGAACCACCATTAGAAGGATGACTTCAGAGGGTAAAACCAAAAGGCATTCACCCAGTGACCACTGGGAACTCACTACCCAGCTGTCCAATAGGCCATGGCCTCTCTGAAACCTCCAGTGGATCCCGTAAGAGGTGACTAGCACCCACCTTGGTCTGGTACAGGGCCTCAGCTTCGGCCTTGCTTCTCTGAGCGATATCCTCATACTGTGCACGAACTTCAGCAATGATGCTGTCCAGGTCCAGGGAGCGATTATTGTCCATGGACAGCACCACAGATGTGTCACTGATGTGGCTCTGCATCTGAGATAGCTCCTGTCAACACAGAGGGAGCTTGTTCACTTTTGGGGTCCCTGTAACAAGCACACAGGGCCCTGAAAGACTCTTGATCAACAGTCTCATTCACTGATTCCTTGCTCCACATGTGTATCAGCCACACCCTGTCCGCAGCCACTCAGAGAACCCCATGTCTGCAGCTTATCCTGTGGAATCCCTTCCAAGGGTCCTCATCTCCAGGCTCATTCCAGATGTCTTCTGGGGCCTATATACCAAAATGCACCAGCCTCAAATCTGGAAACACCTCACTCTCCCTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAACAAACAGCAAACCACAACTGCAGCAAGAAAGAGCAGAGGGGACTGGTGCAGTGATGGTCCTTGTCTAAGACCAGTCTCCACTTGAACGGGCAATTTGTATCTCATTAGGATGGTCTAAGTTTAATCCTACTAAAAAACTAAAGACTGATGAACTAACTCTTTTAGGGATCTTCCAGACTAAGGTGCACCTGACTTCTGTTTATTGCTCCAAAGGCCTGAACTTGGCAGCTCTGTGGCAGTGGAGTGAGGAGATTCCCCCAACCCAGCCAGAAACCTGCAGCTGCAAGCCTCAGAAACCTCACACACAGCCCTTACCTTCTTCAGAGTCACAAATTCATTCTCAGCAGCTGTACGTTTATTGATTTCATCCTCATATCTGTGTGAATAAAAAAGAAACAGCTGAGTTTGGTTTTGAGGTCATCGTAAACACCAT
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TGTTCCTGGGTCAGACTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTCACAGAATAATGAACAACCGGATCCGCACCATGGACTGAGAAGACGAACTGCCTTTGTTTCAGAGGAAGAGTTCTCCAGCTGCTCTGTGGATCACAGAGCCCACATGGGAGAGGCAGAGGCAGGGAGGCCAGGGAGGTGACCAGGGAGCTCAGTGCCCTAAGGAGAAGGACATGGAGCGAATACTCAGAGGCCCGGAGTGAAACACAGTGCACTTTATTGGCGACAGACCGGAGGGGCGGAGGGGGCTGTGTGCTATATACATCAGAGCTGTAGTGAGCATCCCACCCAGGGAGGGGACTCCGGGGCAGCAGAAGGTGGCGGCCTAGGCCACACCTGGACAATCACAGGCACAGGCTGGAGCCGGAGAGAAGAGCCTGAAATTCTCGTGACTGGGCTTGGCCGGGGATCTGGAAGGAGGAGCAAGAGGCCACAAGCCTTCCAGCGCAGAGCCGCGTTCTTGGGGAGCATGGGGTGGCGCTGGGGGTGTTGCCAATATGGGGGCGTGGGGAGCGGAGGGGAGGCGCTGGAGTGGCTGCGATGCTGATGCGTGCTCTTTATCTGGAGTAGCGCTGGGAGGACTGGGAGGACTGGGAGAACTTGATGCTGCCGCCCCGGTTGCTGGCCGAGCTGAAGCCCCCGCCACTGACTCCATAGCGGGCGCCAGAGATGGAGCCAAAGCCGCTGCCACCGCTGAAACCGCTGCTGCCGCCGCCAAATCCACCGCCGATTCCACCGCCGCCTCCCCGGCCAAAGCCACTGCCTGAGCCGCCGCCCGCACTGAAGCCACCTCCTAAACCACCGCCCATGCCTCCGCCGTAACCTCCTCCATAGCCACCTGCGGAGGCGGAAGTCGTGCTGCTGCTGACCACGGCTGTGGGGGAGAGGACAGGACAGCGATCAGCGACGGCGCCCAGGCCAGCTGCTATGTTATTGTCAATGATCCACCGGGCCCACGACTATCCAGAGCTGATCAAGGCAGCTTTGCACAGGATGTTCACCACGAGCCGTTCCAAGGCCACTAGCTACTCACTCCCCTGCCGTTAAGCCATTATGAATTAGCCAGTGGTTCCTCCCACAGTACAGTCTTGATGACCCCCTTGGAGGGGATCTAGCGTCTGAATTTATCCTCCTATCAAGAGGCCCCCTGTTGGATATTCCACATTGGCCGTCGAAGCCTATTAAAAGTGCCCTGAACCCAGAACAATTACAAAAGCCAATCACTTCCCTCTCCTCTCCCAGAAAACCCCTCCAACTTCCGTAAAAATATGTTTAAATTAGTTGCTACTACCCTGGATTAGTGCAGATATTTCAGAATTAACTCTCATTTTCTTAGCTACTTTCGGTACTTACAGATGCTGACAGCACTCGGACACTCTCCAGACATCCTGTTTGAGAAAGCAAGAGAAAGTGGGCCCCGTCACAAAGCACATCACCAACAAGTCCACGGACCAAGGGCATGAATAGCAACCAGAGCTGAACAGAGAAGCCTGGCAAATCAGGTAAGCTTTCTCCACCCCTCTTTGGGCTGTAGCAAGGAGAGCCTGTGGGCACTGGTTGCATACGTGCCCTGGGAGGGAGTGGGCTGGTAGAGGCAAATGCTTCACCACAAGGCCTCTCTTTATACAGCAGGGCTCCATCCCCAGTTACTTGGTCACTTATCTGGCCCTTGGCCTATGACTTGAGCCAGGGGGTGTGGGAAGACGGGACTGGAGGCTCACCTGTACTCCTCGCCCTCCAGCAGCTTGGGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTAGTCACGTAGCAGCCGCGCCAGGTCATCCTTCGCCTGCTGTAGAGCAGCCTGCAGCTCTTGGAGCTTGGCATTGGCATCCTTGAGGGCCATCTCTCCATGCTGCTCGGCCTCGGCAATGGCCGTCTGCAGGTTGGCATTCTGGGGCAAGGGAGGTAGGAGGAATGAGCTCAGTAAGAGGGCCCCAGGCCCTTCCTGACATGCAATGGATTATCCCATCTTAAAGTCAGGGAACATTCCTCCTCCCCTAGTGCCTCCATCTTGTCTCCATTTGTGGAGATACTGCCCTGTGGGTCAGCCAGCCTGAGATGACCTCCAGACGTCTATTCCAGGGGAGGAGTCCTGAGATCCTAGCCCCTGCCCCTCAGCAATCATCCCAGGTGCCAGCATCCATGACCATCCCACCTGCTTCTTGACACCCTCGATCTCTGCCCGCAGCCTCTGGATCATTCTGTTGAGCTCTATGATCTCGCTCTTGGTATTTCTTAGGTCATCCCCATGCCTGCCAGCCGTGGTCTGCAGCTCCCCCAACTGCAGAACAGAAGGGAAGATGGGGTATTCCTGCAGCTTTGCTTGACTTGTTTCTACACCTCCAACATCACCCACCAAACCTTCAGAAGCTCAGTAAGGCATTTGCTAAAATGATACTGCATTGTGTTTCAGCAGGGAAACCCCCAAGGCAGCAGGAAAGAGAACATCTGGGTTGTTGTGGTAGAAGATTTTCCTACCCTGTAGTTCCTGAGCAAGTTGGAGTCAGTCCCACATAGCAGGCAACCATCTCCCCCAGGGGCAAGACTTTCTGCAACTGAACCACCATTAGAAGGATGACTTCAGAGGGTAAAACCAAAAGGCATTCACCCAGTGACCACTGGGAACTCACTACCCAGCTGTCCAATAGGCCATGGCCTCTCTGAAACCTCCAGTGGATCCCGTAAGAGGTGACTAGCACCCACCTTGGTCTGGTACAGGGCCTCAGCTTCGGCCTTGCTTCTCTGAGCGATATCCTCATACTGTGCACGAACTTCAGCAATGATGCTGTCCAGGTCCAGGGAGCGATTATTGTCCATGGACAGCACCACAGATGTGTCACTGATGTGGCTCTGCATCTGAGATAGCTCCTGTCAACACAGAGGGAGCTTGTTCACTTTTGGGGTCCCTGTAACAAGCACACAGGGCCCTGAAAGACTCTTGATCAACAGTCTCATTCACTGATTCCTTGCTCCACATGTGTATCAGCCACACCCTGTCCGCAGCCACTCAGAGAACCCCATGTCTGCAGCTTATCCTGTGGAATCCCTTCCAAGGGTCCTCATCTCCAGGCTCATTCCAGATGTCTTCTGGGGCCTATATACCAAAATGCACCAGCCTCAAATCTGGAAACACCTCACTCTCCCTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAACAAACAGCAAACCACAACTGCAGCAAGAAAGAGCAGAGGGGACTGGTGCAGTGATGGTCCTTGTCTAAGACCAGTCTCCACTTGAACGGGCAATTTGTATCTCATTAGGATGGTCTAAGTTTAATCCTACTAAAAAACTAAAGACTGATGAACTAACTCTTTTAGGGATCTTCCAGACTAAGGTGCACCTGACTTCTGTTTATTGCTCCAAAGGCCTGAACTTGGCAGCTCTGTGGCAGTGGAGTGAGGAGATTCCCCCAACCCAGCCAGAAACCTGCAGCTGCAAGCCTCAGAAACCTCACACACAGCCCTTACCTTCTTCAGAGTCACAAATTCATTCTCAGCAGCTGTACGTTTATTGATTTCATCCTCATATCTGTGTGAATAAAAAAGAAACAGCTGAGTTTGGTTTTGAGGTCATCGTAAACACCAT
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Task1_train_17948
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A sequence alteration has been identified in KRT3, LOC126861527 (keratin 3| BRD4-independent group 4 enhancer GRCh37_chr12:53184490-53185689) on Chromosome 12. Is it disease-inducing or harmless?
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Pathogenic; Corneal dystrophy, Meesmann, 2
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CTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTCACAGAATAATGAACAACCGGATCCGCACCATGGACTGAGAAGACGAACTGCCTTTGTTTCAGAGGAAGAGTTCTCCAGCTGCTCTGTGGATCACAGAGCCCACATGGGAGAGGCAGAGGCAGGGAGGCCAGGGAGGTGACCAGGGAGCTCAGTGCCCTAAGGAGAAGGACATGGAGCGAATACTCAGAGGCCCGGAGTGAAACACAGTGCACTTTATTGGCGACAGACCGGAGGGGCGGAGGGGGCTGTGTGCTATATACATCAGAGCTGTAGTGAGCATCCCACCCAGGGAGGGGACTCCGGGGCAGCAGAAGGTGGCGGCCTAGGCCACACCTGGACAATCACAGGCACAGGCTGGAGCCGGAGAGAAGAGCCTGAAATTCTCGTGACTGGGCTTGGCCGGGGATCTGGAAGGAGGAGCAAGAGGCCACAAGCCTTCCAGCGCAGAGCCGCGTTCTTGGGGAGCATGGGGTGGCGCTGGGGGTGTTGCCAATATGGGGGCGTGGGGAGCGGAGGGGAGGCGCTGGAGTGGCTGCGATGCTGATGCGTGCTCTTTATCTGGAGTAGCGCTGGGAGGACTGGGAGGACTGGGAGAACTTGATGCTGCCGCCCCGGTTGCTGGCCGAGCTGAAGCCCCCGCCACTGACTCCATAGCGGGCGCCAGAGATGGAGCCAAAGCCGCTGCCACCGCTGAAACCGCTGCTGCCGCCGCCAAATCCACCGCCGATTCCACCGCCGCCTCCCCGGCCAAAGCCACTGCCTGAGCCGCCGCCCGCACTGAAGCCACCTCCTAAACCACCGCCCATGCCTCCGCCGTAACCTCCTCCATAGCCACCTGCGGAGGCGGAAGTCGTGCTGCTGCTGACCACGGCTGTGGGGGAGAGGACAGGACAGCGATCAGCGACGGCGCCCAGGCCAGCTGCTATGTTATTGTCAATGATCCACCGGGCCCACGACTATCCAGAGCTGATCAAGGCAGCTTTGCACAGGATGTTCACCACGAGCCGTTCCAAGGCCACTAGCTACTCACTCCCCTGCCGTTAAGCCATTATGAATTAGCCAGTGGTTCCTCCCACAGTACAGTCTTGATGACCCCCTTGGAGGGGATCTAGCGTCTGAATTTATCCTCCTATCAAGAGGCCCCCTGTTGGATATTCCACATTGGCCGTCGAAGCCTATTAAAAGTGCCCTGAACCCAGAACAATTACAAAAGCCAATCACTTCCCTCTCCTCTCCCAGAAAACCCCTCCAACTTCCGTAAAAATATGTTTAAATTAGTTGCTACTACCCTGGATTAGTGCAGATATTTCAGAATTAACTCTCATTTTCTTAGCTACTTTCGGTACTTACAGATGCTGACAGCACTCGGACACTCTCCAGACATCCTGTTTGAGAAAGCAAGAGAAAGTGGGCCCCGTCACAAAGCACATCACCAACAAGTCCACGGACCAAGGGCATGAATAGCAACCAGAGCTGAACAGAGAAGCCTGGCAAATCAGGTAAGCTTTCTCCACCCCTCTTTGGGCTGTAGCAAGGAGAGCCTGTGGGCACTGGTTGCATACGTGCCCTGGGAGGGAGTGGGCTGGTAGAGGCAAATGCTTCACCACAAGGCCTCTCTTTATACAGCAGGGCTCCATCCCCAGTTACTTGGTCACTTATCTGGCCCTTGGCCTATGACTTGAGCCAGGGGGTGTGGGAAGACGGGACTGGAGGCTCACCTGTACTCCTCGCCCTCCAGCAGCTTGCGGTAGGTGGCGATCTCCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTAGTCACGTAGCAGCCGCGCCAGGTCATCCTTCGCCTGCTGTAGAGCAGCCTGCAGCTCTTGGAGCTTGGCATTGGCATCCTTGAGGGCCATCTCTCCATGCTGCTCGGCCTCGGCAATGGCCGTCTGCAGGTTGGCATTCTGGGGCAAGGGAGGTAGGAGGAATGAGCTCAGTAAGAGGGCCCCAGGCCCTTCCTGACATGCAATGGATTATCCCATCTTAAAGTCAGGGAACATTCCTCCTCCCCTAGTGCCTCCATCTTGTCTCCATTTGTGGAGATACTGCCCTGTGGGTCAGCCAGCCTGAGATGACCTCCAGACGTCTATTCCAGGGGAGGAGTCCTGAGATCCTAGCCCCTGCCCCTCAGCAATCATCCCAGGTGCCAGCATCCATGACCATCCCACCTGCTTCTTGACACCCTCGATCTCTGCCCGCAGCCTCTGGATCATTCTGTTGAGCTCTATGATCTCGCTCTTGGTATTTCTTAGGTCATCCCCATGCCTGCCAGCCGTGGTCTGCAGCTCCCCCAACTGCAGAACAGAAGGGAAGATGGGGTATTCCTGCAGCTTTGCTTGACTTGTTTCTACACCTCCAACATCACCCACCAAACCTTCAGAAGCTCAGTAAGGCATTTGCTAAAATGATACTGCATTGTGTTTCAGCAGGGAAACCCCCAAGGCAGCAGGAAAGAGAACATCTGGGTTGTTGTGGTAGAAGATTTTCCTACCCTGTAGTTCCTGAGCAAGTTGGAGTCAGTCCCACATAGCAGGCAACCATCTCCCCCAGGGGCAAGACTTTCTGCAACTGAACCACCATTAGAAGGATGACTTCAGAGGGTAAAACCAAAAGGCATTCACCCAGTGACCACTGGGAACTCACTACCCAGCTGTCCAATAGGCCATGGCCTCTCTGAAACCTCCAGTGGATCCCGTAAGAGGTGACTAGCACCCACCTTGGTCTGGTACAGGGCCTCAGCTTCGGCCTTGCTTCTCTGAGCGATATCCTCATACTGTGCACGAACTTCAGCAATGATGCTGTCCAGGTCCAGGGAGCGATTATTGTCCATGGACAGCACCACAGATGTGTCACTGATGTGGCTCTGCATCTGAGATAGCTCCTGTCAACACAGAGGGAGCTTGTTCACTTTTGGGGTCCCTGTAACAAGCACACAGGGCCCTGAAAGACTCTTGATCAACAGTCTCATTCACTGATTCCTTGCTCCACATGTGTATCAGCCACACCCTGTCCGCAGCCACTCAGAGAACCCCATGTCTGCAGCTTATCCTGTGGAATCCCTTCCAAGGGTCCTCATCTCCAGGCTCATTCCAGATGTCTTCTGGGGCCTATATACCAAAATGCACCAGCCTCAAATCTGGAAACACCTCACTCTCCCTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAACAAACAGCAAACCACAACTGCAGCAAGAAAGAGCAGAGGGGACTGGTGCAGTGATGGTCCTTGTCTAAGACCAGTCTCCACTTGAACGGGCAATTTGTATCTCATTAGGATGGTCTAAGTTTAATCCTACTAAAAAACTAAAGACTGATGAACTAACTCTTTTAGGGATCTTCCAGACTAAGGTGCACCTGACTTCTGTTTATTGCTCCAAAGGCCTGAACTTGGCAGCTCTGTGGCAGTGGAGTGAGGAGATTCCCCCAACCCAGCCAGAAACCTGCAGCTGCAAGCCTCAGAAACCTCACACACAGCCCTTACCTTCTTCAGAGTCACAAATTCATTCTCAGCAGCTGTACGTTTATTGATTTCATCCTCATATCTGTGTGAATAAAAAAGAAACAGCTGAGTTTGGTTTTGAGGTCATCGTAAACACCATTGTTCCCTGGAACTC
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CTTTGACATAGGCTGCTCTGGGGCCTATTTCCATCCCTGGGCTTCCAGCAGCCCGCACTTTCCCGGAGCACCTTGATGGGGGAAAAGCTTTCACGATGTCAGCTGGAGTGAGAATCAACACCAAGGGAAGAAACCCTCTGTCCCCAAGGCCCTCTTAGTTCCCCCACATGAGAGAAGACAGGGAGGAGACAGATGTCTGCATGGGCCAGCCTTCACCACTAAGGACGGTAAGGGTACACAGGGTACAACAGCGTCGGGGAGCAGGACCTCTCCCTCCCCACGGTGCTCACAGAATAATGAACAACCGGATCCGCACCATGGACTGAGAAGACGAACTGCCTTTGTTTCAGAGGAAGAGTTCTCCAGCTGCTCTGTGGATCACAGAGCCCACATGGGAGAGGCAGAGGCAGGGAGGCCAGGGAGGTGACCAGGGAGCTCAGTGCCCTAAGGAGAAGGACATGGAGCGAATACTCAGAGGCCCGGAGTGAAACACAGTGCACTTTATTGGCGACAGACCGGAGGGGCGGAGGGGGCTGTGTGCTATATACATCAGAGCTGTAGTGAGCATCCCACCCAGGGAGGGGACTCCGGGGCAGCAGAAGGTGGCGGCCTAGGCCACACCTGGACAATCACAGGCACAGGCTGGAGCCGGAGAGAAGAGCCTGAAATTCTCGTGACTGGGCTTGGCCGGGGATCTGGAAGGAGGAGCAAGAGGCCACAAGCCTTCCAGCGCAGAGCCGCGTTCTTGGGGAGCATGGGGTGGCGCTGGGGGTGTTGCCAATATGGGGGCGTGGGGAGCGGAGGGGAGGCGCTGGAGTGGCTGCGATGCTGATGCGTGCTCTTTATCTGGAGTAGCGCTGGGAGGACTGGGAGGACTGGGAGAACTTGATGCTGCCGCCCCGGTTGCTGGCCGAGCTGAAGCCCCCGCCACTGACTCCATAGCGGGCGCCAGAGATGGAGCCAAAGCCGCTGCCACCGCTGAAACCGCTGCTGCCGCCGCCAAATCCACCGCCGATTCCACCGCCGCCTCCCCGGCCAAAGCCACTGCCTGAGCCGCCGCCCGCACTGAAGCCACCTCCTAAACCACCGCCCATGCCTCCGCCGTAACCTCCTCCATAGCCACCTGCGGAGGCGGAAGTCGTGCTGCTGCTGACCACGGCTGTGGGGGAGAGGACAGGACAGCGATCAGCGACGGCGCCCAGGCCAGCTGCTATGTTATTGTCAATGATCCACCGGGCCCACGACTATCCAGAGCTGATCAAGGCAGCTTTGCACAGGATGTTCACCACGAGCCGTTCCAAGGCCACTAGCTACTCACTCCCCTGCCGTTAAGCCATTATGAATTAGCCAGTGGTTCCTCCCACAGTACAGTCTTGATGACCCCCTTGGAGGGGATCTAGCGTCTGAATTTATCCTCCTATCAAGAGGCCCCCTGTTGGATATTCCACATTGGCCGTCGAAGCCTATTAAAAGTGCCCTGAACCCAGAACAATTACAAAAGCCAATCACTTCCCTCTCCTCTCCCAGAAAACCCCTCCAACTTCCGTAAAAATATGTTTAAATTAGTTGCTACTACCCTGGATTAGTGCAGATATTTCAGAATTAACTCTCATTTTCTTAGCTACTTTCGGTACTTACAGATGCTGACAGCACTCGGACACTCTCCAGACATCCTGTTTGAGAAAGCAAGAGAAAGTGGGCCCCGTCACAAAGCACATCACCAACAAGTCCACGGACCAAGGGCATGAATAGCAACCAGAGCTGAACAGAGAAGCCTGGCAAATCAGGTAAGCTTTCTCCACCCCTCTTTGGGCTGTAGCAAGGAGAGCCTGTGGGCACTGGTTGCATACGTGCCCTGGGAGGGAGTGGGCTGGTAGAGGCAAATGCTTCACCACAAGGCCTCTCTTTATACAGCAGGGCTCCATCCCCAGTTACTTGGTCACTTATCTGGCCCTTGGCCTATGACTTGAGCCAGGGGGTGTGGGAAGACGGGACTGGAGGCTCACCTGTACTCCTCGCCCTCCAGCAGCTTGCGGTAGGTGGCGATCACCACGTCCAGGGCCAGCTTGACATTCATCAGCTCCTGGTAGTCACGTAGCAGCCGCGCCAGGTCATCCTTCGCCTGCTGTAGAGCAGCCTGCAGCTCTTGGAGCTTGGCATTGGCATCCTTGAGGGCCATCTCTCCATGCTGCTCGGCCTCGGCAATGGCCGTCTGCAGGTTGGCATTCTGGGGCAAGGGAGGTAGGAGGAATGAGCTCAGTAAGAGGGCCCCAGGCCCTTCCTGACATGCAATGGATTATCCCATCTTAAAGTCAGGGAACATTCCTCCTCCCCTAGTGCCTCCATCTTGTCTCCATTTGTGGAGATACTGCCCTGTGGGTCAGCCAGCCTGAGATGACCTCCAGACGTCTATTCCAGGGGAGGAGTCCTGAGATCCTAGCCCCTGCCCCTCAGCAATCATCCCAGGTGCCAGCATCCATGACCATCCCACCTGCTTCTTGACACCCTCGATCTCTGCCCGCAGCCTCTGGATCATTCTGTTGAGCTCTATGATCTCGCTCTTGGTATTTCTTAGGTCATCCCCATGCCTGCCAGCCGTGGTCTGCAGCTCCCCCAACTGCAGAACAGAAGGGAAGATGGGGTATTCCTGCAGCTTTGCTTGACTTGTTTCTACACCTCCAACATCACCCACCAAACCTTCAGAAGCTCAGTAAGGCATTTGCTAAAATGATACTGCATTGTGTTTCAGCAGGGAAACCCCCAAGGCAGCAGGAAAGAGAACATCTGGGTTGTTGTGGTAGAAGATTTTCCTACCCTGTAGTTCCTGAGCAAGTTGGAGTCAGTCCCACATAGCAGGCAACCATCTCCCCCAGGGGCAAGACTTTCTGCAACTGAACCACCATTAGAAGGATGACTTCAGAGGGTAAAACCAAAAGGCATTCACCCAGTGACCACTGGGAACTCACTACCCAGCTGTCCAATAGGCCATGGCCTCTCTGAAACCTCCAGTGGATCCCGTAAGAGGTGACTAGCACCCACCTTGGTCTGGTACAGGGCCTCAGCTTCGGCCTTGCTTCTCTGAGCGATATCCTCATACTGTGCACGAACTTCAGCAATGATGCTGTCCAGGTCCAGGGAGCGATTATTGTCCATGGACAGCACCACAGATGTGTCACTGATGTGGCTCTGCATCTGAGATAGCTCCTGTCAACACAGAGGGAGCTTGTTCACTTTTGGGGTCCCTGTAACAAGCACACAGGGCCCTGAAAGACTCTTGATCAACAGTCTCATTCACTGATTCCTTGCTCCACATGTGTATCAGCCACACCCTGTCCGCAGCCACTCAGAGAACCCCATGTCTGCAGCTTATCCTGTGGAATCCCTTCCAAGGGTCCTCATCTCCAGGCTCATTCCAGATGTCTTCTGGGGCCTATATACCAAAATGCACCAGCCTCAAATCTGGAAACACCTCACTCTCCCTCTGTCCCTTCTTAGTAGGTAACATCCTTACAGCGTCGTAGAGGGTCCTTAAGAAGTCGATCTCATCTATCAAGGCATCCACTTTGGCCTGAAGCTCCACCTTGTTCATATAGGCACTGTCCACATCCTGAGAAAAGAGGAAGATAAAGGCCTTATTCTCCCAATGAACAAACAGCAAACCACAACTGCAGCAAGAAAGAGCAGAGGGGACTGGTGCAGTGATGGTCCTTGTCTAAGACCAGTCTCCACTTGAACGGGCAATTTGTATCTCATTAGGATGGTCTAAGTTTAATCCTACTAAAAAACTAAAGACTGATGAACTAACTCTTTTAGGGATCTTCCAGACTAAGGTGCACCTGACTTCTGTTTATTGCTCCAAAGGCCTGAACTTGGCAGCTCTGTGGCAGTGGAGTGAGGAGATTCCCCCAACCCAGCCAGAAACCTGCAGCTGCAAGCCTCAGAAACCTCACACACAGCCCTTACCTTCTTCAGAGTCACAAATTCATTCTCAGCAGCTGTACGTTTATTGATTTCATCCTCATATCTGTGTGAATAAAAAAGAAACAGCTGAGTTTGGTTTTGAGGTCATCGTAAACACCATTGTTCCCTGGAACTC
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Task1_train_17949
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Here is a genetic alteration in KRT4 (keratin 4) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; White sponge nevus 1
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AGGGTGGCCAAGGCAGAGAGTGCATTCTGCATCTGCAGCAAACTGATTCGAGTCAGACTGCAGAGCAGGAGCTGGGAAATCTTTGGAAGAGGGGAGACTGTGCTGCTCCAGGTACTTGGAATTGGTCCAATATAGAAAAAGGGTGTCCCCAAATCTACCCAGACCCCCACCTCTGACTGTCCTCTCCCCGCTTCTGTAATTAGACAGCTCCCTCCACTCCTGCTCCAGAAGACCTGCTCCACCTCCAACATTCTTCGCCACTCAGGGACAGCACCACAGACATAACCCCAGGCACCCCTGAGGAGCTGGGGAAGTGAGCAGCTCATGAAAACTCTAGGAGAATGACACACATGCACACCTCCCTCCAACAACCGTGACCTTGTTGATTCTTGGAACAGGTTCCTGAAAGCCTTGTTGGGCCAGTGAGATTTAGCCCCATGCATGGAATTTCATGAAAATAGGGAGGCCTTGCTAGACACAGAGTATAAGCACTCTCATAAGCTCCATAACTTCTTGCTCTATATTCAGCAGAGACCCCTGGCCTGCTTCTCTCACACCTATCAAATGCCCCCCACCTGCAGACTTAAACCCCTTCCCTCCAGGTTTATTCCAGGATCAGCATTGAAATGGTGCTACCCCAGGGTGCCCTACAATGGACAATGTGTGTATAATTGTTGGATGCCCCTTCAATCTGTACAACTGCCCTGTAGGCAACCTTCAGCCTCTGTACACTGTACTTCTCCCCCAATAATTTGAGTAACTTAGAAGTAGAGACCTGAGAAACTAGTCGATGACCCAGATCTGTATAAACAGATCCTTCACACCCGCAAGCATACACCTTCACCAAAATTATCTAGTTATACAGGATTCTAGAGACCTCTCCCCAGGGAAAAAAGACCATTGCTCAGAATGAATGACAAAAGCATTTTATTGAAGATTCACCTGCAGATGGATAAGAGGGAATGAGAGGAGTAGAATGGGACACTAAGTGGTTCTCATCCTAAGCTTGCAGGGCCAAGTGCTGCCGGGTGTTGGAGAAGTAGTTTGGTTCTGATGTAGATGGATAATACAGGATCTAGTGGGAGATGGCATTGGACTGGGAAGGGACATATGTGACCCCAATAATTCTGGAGATGACACTCCTGGTCATTTTCTTCTCTGTCCATGGGAGGTGAGAGGTCAGCTGACATCCTTCCCATTCCAGGTGGGTCACCAGGCCCAAATCAAGAAGTAGCTACCAAACTCCAAGAGGCAGAGTCCCTGTCCCAGCACAGAAGATCATCCTGGGGCAGAGAGAGCCCATGGGATAGTGGAGGGGATACTAGTAAGATGAGCCCCAGAGACAGAGGATGGAGGTGAAGTGAAGGAAGCACAGAGACACCAGTGCTGGGCCCAGCTGGACACAGTGAGCTGCAGGGACCTCGTCTCCTCTATCGTCTCTTGTTCAGGGTGGTGGTAGAGATGATCTTGCTGCTGGAACTGCCAGAGACACTGCCACCAAACCCAAAGCCACTTCCAGAGCCGGAGCCAAAGCCACTACTCAGGCCAAACCCGGAGCCACTTCCTAATCCTCCGCTGATGCCTCCAGTGCTGGTGCTACCGCTGACCACAGCTGCAGAAAAGACACAAAAGACACAGTTATTCCAATGCTGCCAGCACCCCAGGGGTCTGGCAAGACCCGGGTGAATGAACAACTACAGCAGGCGTGGAAGGTACTTACAGATGCTCACGGCACTCTGGCATTCTCCAGACATTCTGTAGGGGAAAGAAAAGGCGGTGAGCCTCAGGGAGCACAGAATTTTGTTCAATAAGCATGCCTCACTCACCTCTCTTATCCTTGAGCAGCCTCTGAGTTTGAGGGCCCAGTGTGAACCTATTAGCTGAGCTGTCCTGGTTCGTAATGCACCGGCACAACACTGATGCTTGCAGCCCGGCAGAGGCATAAATAAGCTCATGGCCCTGGACCTCTCTGGCCCTCATGTTCACACCCTGCCTAACCCCTCACCTGTACTCCTCGCCCTCCAGCAGTTTGCGGTAGGTGGCGATCTCGATGTCCAAGGCCAGCTTCACACTCATGAGCTCCTGGTACTCACGCAGCATTCGTGCCAGCTCCTCCTTGGCCTGCTGCAGGGCAGCCTCCAGCTCTACGCGCTTGCTGTGGGCATCTTTAAGGGCATTCTCACCTCGCTGCTCTGCATCAGCCACGGATACCTGAAGAGTCTGGCACTATTGACAAAGGCATTAGATAGGTGGTCAGCAGTGCCCTGCCTTCAAGGCCTCTACACCTGTCCCCTCCCCTGGTCCAGCTTTCCTTGGGTTAGGATGTCAAGATTCTATCTGTTCTGCCCACTTTCCCTGAGACTTATGCATCTCATTCACTCCAGCCATAGCCCACCAATGCCTCCACCAGACTGATTAAATAAAAATGAGCAAAAACCCATGAAGAAGAGCCAAGAAACCTATGCACAGGAGCGTCATGGTGTGCCAACTAGGATATTGCTGAAAAAATCTGGGTATGCCTTGCACAAAGAGCTATGAATTCCCAGCAACAAGCTCAGGGTCTTCTGGCCTGATGCTTTATCTGCTTGTCCACTCTGGAGATGTCTGCCTGAGGCCCCTGGCCTTGTGCTCCATCTGGAAGGGAGTGACACCCACCTGCTTCTTGATGTTCTCGATCTCTGCCCGCAGCCTCTGGATCATCCTGTTGAGCTCTGCAATTTCACTCTTGGTGTTCTTCAGGTTGTCACCATGTTGGTCAACCGAGATCTGGAGCTGCTGGACCTAAGACTCAAGAAGACACAGAGAACCAGGTGTTAGGGGCATTTGGGTAGGGTCCATTCTCAAGTGAACTCAGTGAGAATTGCCACAGGTGGCAAGAATAGCACCAAATGTCAAGTAGTTTCAAATCAGACCAGGACCAACGATGCCTGGGAGAGTCTGTTCATATCTGACTTCTATTGGGCTTGAGCTAATGATCACCTGTTCACAGACATCAAAAGCAGAGCCCCAGAGCCAGCCCCATCTCCTGAGAGATCCATACCACCCACCTTGGTCTGGTACAGGGCTTCAGCCTCAGCCTTGCTCCTCTGGGCAATCTCCTCGTACTGGGCACGGACCTCGGCAATAATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAAAGGACCACGGACGTGTCGCTGACATGGGTCTGCATCTGGGACAGCTCCTGCAGGGCAAATGTCTCACATCAGCCCCCCCAGGAAAGCCTTCACTGACCTGATACAGGCTCAAGTAGGAGCAGAGCTGGCATTCACAATGTGTAGGAAGGGGAGAGACAGGTAAAGTTCTAAGGAGAAATCAAGTGGTTGTGACAGTTCAGGATGGAAGAGCAATGCTTCTAGTCTTTACTGGTCCCCAGGAACCATAAGCCACTCTAATGCAGTGAGTGCCGGTGTGTTGGAATGGAAGGGAAGGGAATGGATCCATTTCACCAGAAAAAAAATGCTAGACAGCAATGAATTCTATTCCAAGCACTCTTTAGATCTAATCACCCCGTCTAAGACCAAGACCACATCTGGTTCTAAGAATCTCCCAGTTGAATTTCCCACTTCAAACCTTTCTATGCATGACCTTGATGAGAACCCACTGCCCTAAAATAAGGGAGCTGGAGTCCTTTCAAAAAACTGTGAATCCCAACCAGCAGCGTCACAGATGGGGGATTCCCTTTCCCTGGATGGAGGGGAGGATGGAGCCCTCACCGCATCATAGAGGACCTTCAGGAAGTTGATCTCGTCATTAAGACTGTCCACCTTGGCCTCCAACTCCACCTTGTTCAGGTAGGCAGCATCCACGTCCTGCAGAGGAGTAAGGAGGATAAGAGATGAGGAGCAGGAATGCCAGTAGGAGGACGGGTTACTAAGTGACACCGACAGGTGTTCTCAGCAGCATTTAGGAAAGACTACTCAGCAGCAGGGGAGCTGGTGGGAGACCAATTATTTTATATATTCTTCCCTAGAGCCACCTGAAGACATGGAAGTTGATTATCCAAATAGGCTATTCTAACAGTATGGAGATCTCTCAAAGAACTAAAAATAGAACTACCATTGGATC
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AGGGTGGCCAAGGCAGAGAGTGCATTCTGCATCTGCAGCAAACTGATTCGAGTCAGACTGCAGAGCAGGAGCTGGGAAATCTTTGGAAGAGGGGAGACTGTGCTGCTCCAGGTACTTGGAATTGGTCCAATATAGAAAAAGGGTGTCCCCAAATCTACCCAGACCCCCACCTCTGACTGTCCTCTCCCCGCTTCTGTAATTAGACAGCTCCCTCCACTCCTGCTCCAGAAGACCTGCTCCACCTCCAACATTCTTCGCCACTCAGGGACAGCACCACAGACATAACCCCAGGCACCCCTGAGGAGCTGGGGAAGTGAGCAGCTCATGAAAACTCTAGGAGAATGACACACATGCACACCTCCCTCCAACAACCGTGACCTTGTTGATTCTTGGAACAGGTTCCTGAAAGCCTTGTTGGGCCAGTGAGATTTAGCCCCATGCATGGAATTTCATGAAAATAGGGAGGCCTTGCTAGACACAGAGTATAAGCACTCTCATAAGCTCCATAACTTCTTGCTCTATATTCAGCAGAGACCCCTGGCCTGCTTCTCTCACACCTATCAAATGCCCCCCACCTGCAGACTTAAACCCCTTCCCTCCAGGTTTATTCCAGGATCAGCATTGAAATGGTGCTACCCCAGGGTGCCCTACAATGGACAATGTGTGTATAATTGTTGGATGCCCCTTCAATCTGTACAACTGCCCTGTAGGCAACCTTCAGCCTCTGTACACTGTACTTCTCCCCCAATAATTTGAGTAACTTAGAAGTAGAGACCTGAGAAACTAGTCGATGACCCAGATCTGTATAAACAGATCCTTCACACCCGCAAGCATACACCTTCACCAAAATTATCTAGTTATACAGGATTCTAGAGACCTCTCCCCAGGGAAAAAAGACCATTGCTCAGAATGAATGACAAAAGCATTTTATTGAAGATTCACCTGCAGATGGATAAGAGGGAATGAGAGGAGTAGAATGGGACACTAAGTGGTTCTCATCCTAAGCTTGCAGGGCCAAGTGCTGCCGGGTGTTGGAGAAGTAGTTTGGTTCTGATGTAGATGGATAATACAGGATCTAGTGGGAGATGGCATTGGACTGGGAAGGGACATATGTGACCCCAATAATTCTGGAGATGACACTCCTGGTCATTTTCTTCTCTGTCCATGGGAGGTGAGAGGTCAGCTGACATCCTTCCCATTCCAGGTGGGTCACCAGGCCCAAATCAAGAAGTAGCTACCAAACTCCAAGAGGCAGAGTCCCTGTCCCAGCACAGAAGATCATCCTGGGGCAGAGAGAGCCCATGGGATAGTGGAGGGGATACTAGTAAGATGAGCCCCAGAGACAGAGGATGGAGGTGAAGTGAAGGAAGCACAGAGACACCAGTGCTGGGCCCAGCTGGACACAGTGAGCTGCAGGGACCTCGTCTCCTCTATCGTCTCTTGTTCAGGGTGGTGGTAGAGATGATCTTGCTGCTGGAACTGCCAGAGACACTGCCACCAAACCCAAAGCCACTTCCAGAGCCGGAGCCAAAGCCACTACTCAGGCCAAACCCGGAGCCACTTCCTAATCCTCCGCTGATGCCTCCAGTGCTGGTGCTACCGCTGACCACAGCTGCAGAAAAGACACAAAAGACACAGTTATTCCAATGCTGCCAGCACCCCAGGGGTCTGGCAAGACCCGGGTGAATGAACAACTACAGCAGGCGTGGAAGGTACTTACAGATGCTCACGGCACTCTGGCATTCTCCAGACATTCTGTAGGGGAAAGAAAAGGCGGTGAGCCTCAGGGAGCACAGAATTTTGTTCAATAAGCATGCCTCACTCACCTCTCTTATCCTTGAGCAGCCTCTGAGTTTGAGGGCCCAGTGTGAACCTATTAGCTGAGCTGTCCTGGTTCGTAATGCACCGGCACAACACTGATGCTTGCAGCCCGGCAGAGGCATAAATAAGCTCATGGCCCTGGACCTCTCTGGCCCTCATGTTCACACCCTGCCTAACCCCTCACCTGTACTCCTCGCCCTCCAGCAGTTTGCGGTAGGTGGCGATCTTGATGTCCAAGGCCAGCTTCACACTCATGAGCTCCTGGTACTCACGCAGCATTCGTGCCAGCTCCTCCTTGGCCTGCTGCAGGGCAGCCTCCAGCTCTACGCGCTTGCTGTGGGCATCTTTAAGGGCATTCTCACCTCGCTGCTCTGCATCAGCCACGGATACCTGAAGAGTCTGGCACTATTGACAAAGGCATTAGATAGGTGGTCAGCAGTGCCCTGCCTTCAAGGCCTCTACACCTGTCCCCTCCCCTGGTCCAGCTTTCCTTGGGTTAGGATGTCAAGATTCTATCTGTTCTGCCCACTTTCCCTGAGACTTATGCATCTCATTCACTCCAGCCATAGCCCACCAATGCCTCCACCAGACTGATTAAATAAAAATGAGCAAAAACCCATGAAGAAGAGCCAAGAAACCTATGCACAGGAGCGTCATGGTGTGCCAACTAGGATATTGCTGAAAAAATCTGGGTATGCCTTGCACAAAGAGCTATGAATTCCCAGCAACAAGCTCAGGGTCTTCTGGCCTGATGCTTTATCTGCTTGTCCACTCTGGAGATGTCTGCCTGAGGCCCCTGGCCTTGTGCTCCATCTGGAAGGGAGTGACACCCACCTGCTTCTTGATGTTCTCGATCTCTGCCCGCAGCCTCTGGATCATCCTGTTGAGCTCTGCAATTTCACTCTTGGTGTTCTTCAGGTTGTCACCATGTTGGTCAACCGAGATCTGGAGCTGCTGGACCTAAGACTCAAGAAGACACAGAGAACCAGGTGTTAGGGGCATTTGGGTAGGGTCCATTCTCAAGTGAACTCAGTGAGAATTGCCACAGGTGGCAAGAATAGCACCAAATGTCAAGTAGTTTCAAATCAGACCAGGACCAACGATGCCTGGGAGAGTCTGTTCATATCTGACTTCTATTGGGCTTGAGCTAATGATCACCTGTTCACAGACATCAAAAGCAGAGCCCCAGAGCCAGCCCCATCTCCTGAGAGATCCATACCACCCACCTTGGTCTGGTACAGGGCTTCAGCCTCAGCCTTGCTCCTCTGGGCAATCTCCTCGTACTGGGCACGGACCTCGGCAATAATGCTGTCCAGGTCCAGGTTGCGGTTGTTGTCCATGGAAAGGACCACGGACGTGTCGCTGACATGGGTCTGCATCTGGGACAGCTCCTGCAGGGCAAATGTCTCACATCAGCCCCCCCAGGAAAGCCTTCACTGACCTGATACAGGCTCAAGTAGGAGCAGAGCTGGCATTCACAATGTGTAGGAAGGGGAGAGACAGGTAAAGTTCTAAGGAGAAATCAAGTGGTTGTGACAGTTCAGGATGGAAGAGCAATGCTTCTAGTCTTTACTGGTCCCCAGGAACCATAAGCCACTCTAATGCAGTGAGTGCCGGTGTGTTGGAATGGAAGGGAAGGGAATGGATCCATTTCACCAGAAAAAAAATGCTAGACAGCAATGAATTCTATTCCAAGCACTCTTTAGATCTAATCACCCCGTCTAAGACCAAGACCACATCTGGTTCTAAGAATCTCCCAGTTGAATTTCCCACTTCAAACCTTTCTATGCATGACCTTGATGAGAACCCACTGCCCTAAAATAAGGGAGCTGGAGTCCTTTCAAAAAACTGTGAATCCCAACCAGCAGCGTCACAGATGGGGGATTCCCTTTCCCTGGATGGAGGGGAGGATGGAGCCCTCACCGCATCATAGAGGACCTTCAGGAAGTTGATCTCGTCATTAAGACTGTCCACCTTGGCCTCCAACTCCACCTTGTTCAGGTAGGCAGCATCCACGTCCTGCAGAGGAGTAAGGAGGATAAGAGATGAGGAGCAGGAATGCCAGTAGGAGGACGGGTTACTAAGTGACACCGACAGGTGTTCTCAGCAGCATTTAGGAAAGACTACTCAGCAGCAGGGGAGCTGGTGGGAGACCAATTATTTTATATATTCTTCCCTAGAGCCACCTGAAGACATGGAAGTTGATTATCCAAATAGGCTATTCTAACAGTATGGAGATCTCTCAAAGAACTAAAAATAGAACTACCATTGGATC
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Task1_train_17950
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A variant was discovered in gene AAAS (aladin WD repeat nucleoporin), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Achalasia-alacrima syndrome
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ACCAAGACACTGAGGTAAGGTGGCCTGGGAGGAGACCCGGAGACCTGTAAGAACCTTGGGTGGGGGGAAAATGGGAGCATTTGCTCCTCCTAAGCCCTAGCAAATTCCAAGTTTGGGCCAGCATCATGGTTCTAATTCTCATCATTCCCAGGCAGGGTTCAAGCGTGCAATGGATCTGGTTCAAGAGGAGTTTCTGCAGAGATTAGATTTCTACCAACACAGCTGGCTGCCAGCCCGGGCCTTGGTGGAAGAGGCCCTTGCCCAGCGATTCCAGGTATAGGCCTTGGAGGAGGCATTATGGCTTGAGGATTACTGACTGCCAATCAACAGGAACTCCTGCTTCTTCTACCCTAAACCCTGGAGTGCAGTGGCAGACAACCTCAACCTCTTAGGCTCAAGCAGTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCTCACCCAGCTAATTTTTGTATTTTTTGTAGAGACAGGGTCTTACTTTGTTGCCTAGGCTAGTCTCAAATTCCTGGGCTCAACTGATCCTCCCACCTCAGCCTCCCAAAATGTTGTGACTACAAACATGATCACCATGCCCAGCCTACCTTAAACCTTCTAGCTATGCTCTCCCTCTTTCAGGTGGACCCAAGTGGAGAGATTGTGGAACTGGCGAAAGGTGCATGTCCCTGGAAGGAGCATCTCTACCACCTGGAATCTGGGCTGTCCCCTCCAGTGGCCATCTTCTTTGTTATCTACACTGACCAGGCTGGACAGTGGCGAATACAGTGTGTGCCCAAGGAGCCCCACTCATTCCAAAGCCGGTGAGGCCCTAGGGAACCACTCTGCAGACCTTCAGGCTTGTCTCAGCCTTGTTAAGAGAAGGCTGCCAACTCTGACCCCTGCTGTACTCCCTCTTTCTGCCCAGGCTGCCCCTGCCAGAGCCATGGCGGGGTCTTCGGGACGAGGCCCTGGACCAGGTCAGTGGGATCCCTGGCTGCATCTTCGTCCATGCAAGCGGCTTCACTGGCGGTCACCACACCCGAGAGGGTGCCTTGAGCATGGCCCGTGCCACCTTGGCCCAGCGCTCATACCTCCCACAAATCTCCTAGTCTAATAAAACCTTCCATCTCATACTGACCCAGTCCTTGACTTATTCTTGCCCTACACCATTCCAGAAACTTGTGAAAAGTGAAACAACTATTTATGTGTAAGACCCTGTGCTAGATATATTTTCTTCACAGTAACTTCTCAGCCTTGCTTCCCAAATCATTTGAAACCATAGTTTCTAGGATTAAATAACGTGACCAAATTCACAAGTGGCTAAAAAGTGACAGAACAGGGCCTTAACCCAAAGTCCATGCTTTTTTCCCCTACTGTACCCCACTGCAACTCCCTGGAAAAGACAGACTGGTAACTGAGTGGAAAACAAAAGGAAAACTTATTTATTCTTAGAGGTGGGAATGTGGGGAGTGGGGCAGAACAGGTGGTGGCCCTGGGAGAGGGTCCCAAGGGGCAGAGGTTGGGGATGTCTCAGTAAAGAGGGGCAGGTCATGAATAGAGCCTCCACCCCCAGCAGGGGGTTCCTGGGCCCGCCCAAGCACTGGGCTAAAACGTGGAAACTGGGCATTGACAAAGTACAGCGGGATGTGGGCAATTCGGCCTGTGGACCAGCCCTGCAGAGAAGGGAAAGAAAAGGATCAGAGTCTGGGCCCAAAGAAGGGCCACCTGGCAGAGCCATACAGCAGCCAAGGCCCTCAGCTTCTCCATCCAACTCCTGGAAGCCCCAGCAGCCTGGCGCACTCACCACACTGAGCAGGGCCCCTTTGTTGAAGGAAGGATGGAAAGTGATGAGCTGGGGCTGGGCTCCTGGCTCCCCCTGGATAATGCCACTAGAAGAAAAGGTGAGCAGGCAACCGGAGGCAAGAAGGGAGCTGAATGTAGTGGGATGTGGGTTTGTTTGTGCAGGAAGGCTGGTGAGAAGTCCAGACCTAAGGGCCCACATGGCACTTACCAGGGAAGGAGCTCAAACACAGGGCTGTTTCGAGTGCGAAAAAGGAGGATGACTGGTTTACCATCCTGTACCCTTGGCTTTCCTGTAAGAAATGGATCCAGGGATAGGGGAGGAACTCTGAAGGCAGAGTCCCAGGACATGGGCAGAGGAGAACTCCAGGCCAGGGCACGGCCTCATTAGATTAACTGGGAAGATGGCTGTGGGCTGAGCCCTTCATCCTTGCCTCTCACCTTTCATAAGCACAGCCAGACGTTCCCCACTGGGGTCCCAGACCATGGAGTGAGCCTCTCCCCCAAGCCTGTGGGTAAGGACAGGTTAGGAGAGTTTCAGTGTGGTCCCTCCCACCTGCTTTTCACTGCCACTCCCTCAACCACTCAGCTCACCTCTCCTCACCATCTGGTGTCTGTATTGTTGTCTCAGACAGATCTGCCACAATCGTTGCTGACTTTGCACCTCCAACGCACCCCTTTCCCTCACCTGTGGACAAATAAGAGCAGAGAGGTTCTTGCAAGAAACAGGCCTCTCACTGGTCCCCTGCCAGCTCACCAAAGGCATCAACACCTCGAAATCTCCTAAGCTTCTATATTTCCCTTTATCCCTCAGAGCTGCATCTTACCAAAGGTTGCTGCCTCCCTCTGACCACCCCAAATACTGAAGTGTTGCCCTAACTCACCACAACGTTCTGGAAAAGACAGGGAGTAAATCAGTGGCTCTCCCAATACAGTGAACAGCAGTCGGCTGCCATCTGGGCTCCAGCAGCCAGTCTGGGGTCAGGGAGCAAAAGGCAGGAGAAGGTATGTCTATAGTAGAATGCAGGAGGGAAAGTAGAGGTGGCCAGGTTTGGGAGCATCAGGGGCCCATTGGAATCATCTCCTCCCCAGTGTCTGTGAATCAGAGTCCCCTCTTACCTGACAGCGCCCTGATAGAGTAGGCCACCTCTCACAAGTCCACATCTGGGCCTCCCAGACTCTGAGCCAGAGAAAAGCAAATTACAGCTCAGGACCTCTAAGTTCTAAAAGTTGGACCTACCTCCCTTGACAGAGCTTCCAGGAGCTAAGTGCCTTTCTCTAGGTCCTTGCCCTCCCTCCATCCTTGTCCCACTCACCGAAAGACAGCTGAAGGAGTGGTAGCCAGGATTTTGCTGCCGTCTGGGGACCAGAGCAGGTTGGTCACCCCACCTCCTCGGAACCAGGGAAGGGGGACACAGGTCTCTGTTGAGACATCCCATACCTAGGAGAGTGGGGCAGGAGATAAGGGAAAACTCAAGCACCCCATCATCTCACAGTGGGCTGGCCTCTCTAATGTACAAAGAGCCAGAAACGAGAGGAAGCGGGAGAGGGACTGTGAAACATGAGGCACGGGTTCATGCTGACAATTACAGACAGCGGAATTTTAAACCTCACGAGTCTGATGGCAAAGCTCCTCTCTGGGTAAGTTTAAGACTGAATGGACCAAGGTCCCTCCTCCTTCCCCCAAGATGTTTCCACAACCGAGTGAGGAACACTTTTGCCAGGACTGAAATGTGCATGAGGGGCAGGGACCCACTCACCCGGATAGCAGCATCCACGGGTGAAGCTGAGAGCAGCCGCCCCCCACTGGGGGCCCAGGCCAAGCTGGTAACAGGTGTATGCCCAGGGTGAGACAGCACTTGGGCACAGCCAGAAGAGGGTCTGGAGGGGAACACAGAGGATGTGGAGTCAGAAGATGACAAGAAGCCATCCCCAAAATTCTATTTCTTTGCCTCCTGCTAAAACCTCCTATCCTGATGGCCCACTCTGGGCTCAAATCCAGGTTGTGAAAAAGGAATAAGGATTGTGAAAGTTAAAAGAAAAAAACAGCGAAGGGGAAAAACGACCAAGTCACCACGAGCAGGTCAACAGAGAAGAGGTAATCTGCAAGGTCTCAGGCCAGGGTGAAAGAGTGCTTTCACGAGATAGGCCATGAGGCAAAACCTAACCAGTAACCTAGAAGGTACTGCCCCTGGGGCGATATCAGGCCCTACCCCAGAACACAGCTCTCTGCCCACAGGCCATCCAGCCTGGCCATCCATCTATCCAGGATTAATAATCTATGACATTACTTCAAGGTTCC
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ACCAAGACACTGAGGTAAGGTGGCCTGGGAGGAGACCCGGAGACCTGTAAGAACCTTGGGTGGGGGGAAAATGGGAGCATTTGCTCCTCCTAAGCCCTAGCAAATTCCAAGTTTGGGCCAGCATCATGGTTCTAATTCTCATCATTCCCAGGCAGGGTTCAAGCGTGCAATGGATCTGGTTCAAGAGGAGTTTCTGCAGAGATTAGATTTCTACCAACACAGCTGGCTGCCAGCCCGGGCCTTGGTGGAAGAGGCCCTTGCCCAGCGATTCCAGGTATAGGCCTTGGAGGAGGCATTATGGCTTGAGGATTACTGACTGCCAATCAACAGGAACTCCTGCTTCTTCTACCCTAAACCCTGGAGTGCAGTGGCAGACAACCTCAACCTCTTAGGCTCAAGCAGTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCTCACCCAGCTAATTTTTGTATTTTTTGTAGAGACAGGGTCTTACTTTGTTGCCTAGGCTAGTCTCAAATTCCTGGGCTCAACTGATCCTCCCACCTCAGCCTCCCAAAATGTTGTGACTACAAACATGATCACCATGCCCAGCCTACCTTAAACCTTCTAGCTATGCTCTCCCTCTTTCAGGTGGACCCAAGTGGAGAGATTGTGGAACTGGCGAAAGGTGCATGTCCCTGGAAGGAGCATCTCTACCACCTGGAATCTGGGCTGTCCCCTCCAGTGGCCATCTTCTTTGTTATCTACACTGACCAGGCTGGACAGTGGCGAATACAGTGTGTGCCCAAGGAGCCCCACTCATTCCAAAGCCGGTGAGGCCCTAGGGAACCACTCTGCAGACCTTCAGGCTTGTCTCAGCCTTGTTAAGAGAAGGCTGCCAACTCTGACCCCTGCTGTACTCCCTCTTTCTGCCCAGGCTGCCCCTGCCAGAGCCATGGCGGGGTCTTCGGGACGAGGCCCTGGACCAGGTCAGTGGGATCCCTGGCTGCATCTTCGTCCATGCAAGCGGCTTCACTGGCGGTCACCACACCCGAGAGGGTGCCTTGAGCATGGCCCGTGCCACCTTGGCCCAGCGCTCATACCTCCCACAAATCTCCTAGTCTAATAAAACCTTCCATCTCATACTGACCCAGTCCTTGACTTATTCTTGCCCTACACCATTCCAGAAACTTGTGAAAAGTGAAACAACTATTTATGTGTAAGACCCTGTGCTAGATATATTTTCTTCACAGTAACTTCTCAGCCTTGCTTCCCAAATCATTTGAAACCATAGTTTCTAGGATTAAATAACGTGACCAAATTCACAAGTGGCTAAAAAGTGACAGAACAGGGCCTTAACCCAAAGTCCATGCTTTTTTCCCCTACTGTACCCCACTGCAACTCCCTGGAAAAGACAGACTGGTAACTGAGTGGAAAACAAAAGGAAAACTTATTTATTCTTAGAGGTGGGAATGTGGGGAGTGGGGCAGAACAGGTGGTGGCCCTGGGAGAGGGTCCCAAGGGGCAGAGGTTGGGGATGTCTCAGTAAAGAGGGGCAGGTCATGAATAGAGCCTCCACCCCCAGCAGGGGGTTCCTGGGCCCGCCCAAGCACTGGGCTAAAACGTGGAAACTGGGCATTGACAAAGTACAGCGGGATGTGGGCAATTCGGCCTGTGGACCAGCCCTGCAGAGAAGGGAAAGAAAAGGATCAGAGTCTGGGCCCAAAGAAGGGCCACCTGGCAGAGCCATACAGCAGCCAAGGCCCTCAGCTTCTCCATCCAACTCCTGGAAGCCCCAGCAGCCTGGCGCACTCACCACACTGAGCAGGGCCCCTTTGTTGAAGGAAGGATGGAAAGTGATGAGCTGGGGCTGGGCTCCTGGCTCCCCCTGGATAATGCCACTAGAAGAAAAGGTGAGCAGGCAACCGGAGGCAAGAAGGGAGCTGAATGTAGTGGGATGTGGGTTTGTTTGTGCAGGAAGGCTGGTGAGAAGTCCAGACCTAAGGGCCCACATGGCACTTACCAGGGAAGGAGCTCAAACACAGGGCTGTTTCGAGTGCGAAAAAAGAGGATGACTGGTTTACCATCCTGTACCCTTGGCTTTCCTGTAAGAAATGGATCCAGGGATAGGGGAGGAACTCTGAAGGCAGAGTCCCAGGACATGGGCAGAGGAGAACTCCAGGCCAGGGCACGGCCTCATTAGATTAACTGGGAAGATGGCTGTGGGCTGAGCCCTTCATCCTTGCCTCTCACCTTTCATAAGCACAGCCAGACGTTCCCCACTGGGGTCCCAGACCATGGAGTGAGCCTCTCCCCCAAGCCTGTGGGTAAGGACAGGTTAGGAGAGTTTCAGTGTGGTCCCTCCCACCTGCTTTTCACTGCCACTCCCTCAACCACTCAGCTCACCTCTCCTCACCATCTGGTGTCTGTATTGTTGTCTCAGACAGATCTGCCACAATCGTTGCTGACTTTGCACCTCCAACGCACCCCTTTCCCTCACCTGTGGACAAATAAGAGCAGAGAGGTTCTTGCAAGAAACAGGCCTCTCACTGGTCCCCTGCCAGCTCACCAAAGGCATCAACACCTCGAAATCTCCTAAGCTTCTATATTTCCCTTTATCCCTCAGAGCTGCATCTTACCAAAGGTTGCTGCCTCCCTCTGACCACCCCAAATACTGAAGTGTTGCCCTAACTCACCACAACGTTCTGGAAAAGACAGGGAGTAAATCAGTGGCTCTCCCAATACAGTGAACAGCAGTCGGCTGCCATCTGGGCTCCAGCAGCCAGTCTGGGGTCAGGGAGCAAAAGGCAGGAGAAGGTATGTCTATAGTAGAATGCAGGAGGGAAAGTAGAGGTGGCCAGGTTTGGGAGCATCAGGGGCCCATTGGAATCATCTCCTCCCCAGTGTCTGTGAATCAGAGTCCCCTCTTACCTGACAGCGCCCTGATAGAGTAGGCCACCTCTCACAAGTCCACATCTGGGCCTCCCAGACTCTGAGCCAGAGAAAAGCAAATTACAGCTCAGGACCTCTAAGTTCTAAAAGTTGGACCTACCTCCCTTGACAGAGCTTCCAGGAGCTAAGTGCCTTTCTCTAGGTCCTTGCCCTCCCTCCATCCTTGTCCCACTCACCGAAAGACAGCTGAAGGAGTGGTAGCCAGGATTTTGCTGCCGTCTGGGGACCAGAGCAGGTTGGTCACCCCACCTCCTCGGAACCAGGGAAGGGGGACACAGGTCTCTGTTGAGACATCCCATACCTAGGAGAGTGGGGCAGGAGATAAGGGAAAACTCAAGCACCCCATCATCTCACAGTGGGCTGGCCTCTCTAATGTACAAAGAGCCAGAAACGAGAGGAAGCGGGAGAGGGACTGTGAAACATGAGGCACGGGTTCATGCTGACAATTACAGACAGCGGAATTTTAAACCTCACGAGTCTGATGGCAAAGCTCCTCTCTGGGTAAGTTTAAGACTGAATGGACCAAGGTCCCTCCTCCTTCCCCCAAGATGTTTCCACAACCGAGTGAGGAACACTTTTGCCAGGACTGAAATGTGCATGAGGGGCAGGGACCCACTCACCCGGATAGCAGCATCCACGGGTGAAGCTGAGAGCAGCCGCCCCCCACTGGGGGCCCAGGCCAAGCTGGTAACAGGTGTATGCCCAGGGTGAGACAGCACTTGGGCACAGCCAGAAGAGGGTCTGGAGGGGAACACAGAGGATGTGGAGTCAGAAGATGACAAGAAGCCATCCCCAAAATTCTATTTCTTTGCCTCCTGCTAAAACCTCCTATCCTGATGGCCCACTCTGGGCTCAAATCCAGGTTGTGAAAAAGGAATAAGGATTGTGAAAGTTAAAAGAAAAAAACAGCGAAGGGGAAAAACGACCAAGTCACCACGAGCAGGTCAACAGAGAAGAGGTAATCTGCAAGGTCTCAGGCCAGGGTGAAAGAGTGCTTTCACGAGATAGGCCATGAGGCAAAACCTAACCAGTAACCTAGAAGGTACTGCCCCTGGGGCGATATCAGGCCCTACCCCAGAACACAGCTCTCTGCCCACAGGCCATCCAGCCTGGCCATCCATCTATCCAGGATTAATAATCTATGACATTACTTCAAGGTTCC
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Task1_train_17951
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Given this context: Chromosome 12, gene AAAS (aladin WD repeat nucleoporin) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Glucocorticoid deficiency with achalasia
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AAACCTTCCATCTCATACTGACCCAGTCCTTGACTTATTCTTGCCCTACACCATTCCAGAAACTTGTGAAAAGTGAAACAACTATTTATGTGTAAGACCCTGTGCTAGATATATTTTCTTCACAGTAACTTCTCAGCCTTGCTTCCCAAATCATTTGAAACCATAGTTTCTAGGATTAAATAACGTGACCAAATTCACAAGTGGCTAAAAAGTGACAGAACAGGGCCTTAACCCAAAGTCCATGCTTTTTTCCCCTACTGTACCCCACTGCAACTCCCTGGAAAAGACAGACTGGTAACTGAGTGGAAAACAAAAGGAAAACTTATTTATTCTTAGAGGTGGGAATGTGGGGAGTGGGGCAGAACAGGTGGTGGCCCTGGGAGAGGGTCCCAAGGGGCAGAGGTTGGGGATGTCTCAGTAAAGAGGGGCAGGTCATGAATAGAGCCTCCACCCCCAGCAGGGGGTTCCTGGGCCCGCCCAAGCACTGGGCTAAAACGTGGAAACTGGGCATTGACAAAGTACAGCGGGATGTGGGCAATTCGGCCTGTGGACCAGCCCTGCAGAGAAGGGAAAGAAAAGGATCAGAGTCTGGGCCCAAAGAAGGGCCACCTGGCAGAGCCATACAGCAGCCAAGGCCCTCAGCTTCTCCATCCAACTCCTGGAAGCCCCAGCAGCCTGGCGCACTCACCACACTGAGCAGGGCCCCTTTGTTGAAGGAAGGATGGAAAGTGATGAGCTGGGGCTGGGCTCCTGGCTCCCCCTGGATAATGCCACTAGAAGAAAAGGTGAGCAGGCAACCGGAGGCAAGAAGGGAGCTGAATGTAGTGGGATGTGGGTTTGTTTGTGCAGGAAGGCTGGTGAGAAGTCCAGACCTAAGGGCCCACATGGCACTTACCAGGGAAGGAGCTCAAACACAGGGCTGTTTCGAGTGCGAAAAAGGAGGATGACTGGTTTACCATCCTGTACCCTTGGCTTTCCTGTAAGAAATGGATCCAGGGATAGGGGAGGAACTCTGAAGGCAGAGTCCCAGGACATGGGCAGAGGAGAACTCCAGGCCAGGGCACGGCCTCATTAGATTAACTGGGAAGATGGCTGTGGGCTGAGCCCTTCATCCTTGCCTCTCACCTTTCATAAGCACAGCCAGACGTTCCCCACTGGGGTCCCAGACCATGGAGTGAGCCTCTCCCCCAAGCCTGTGGGTAAGGACAGGTTAGGAGAGTTTCAGTGTGGTCCCTCCCACCTGCTTTTCACTGCCACTCCCTCAACCACTCAGCTCACCTCTCCTCACCATCTGGTGTCTGTATTGTTGTCTCAGACAGATCTGCCACAATCGTTGCTGACTTTGCACCTCCAACGCACCCCTTTCCCTCACCTGTGGACAAATAAGAGCAGAGAGGTTCTTGCAAGAAACAGGCCTCTCACTGGTCCCCTGCCAGCTCACCAAAGGCATCAACACCTCGAAATCTCCTAAGCTTCTATATTTCCCTTTATCCCTCAGAGCTGCATCTTACCAAAGGTTGCTGCCTCCCTCTGACCACCCCAAATACTGAAGTGTTGCCCTAACTCACCACAACGTTCTGGAAAAGACAGGGAGTAAATCAGTGGCTCTCCCAATACAGTGAACAGCAGTCGGCTGCCATCTGGGCTCCAGCAGCCAGTCTGGGGTCAGGGAGCAAAAGGCAGGAGAAGGTATGTCTATAGTAGAATGCAGGAGGGAAAGTAGAGGTGGCCAGGTTTGGGAGCATCAGGGGCCCATTGGAATCATCTCCTCCCCAGTGTCTGTGAATCAGAGTCCCCTCTTACCTGACAGCGCCCTGATAGAGTAGGCCACCTCTCACAAGTCCACATCTGGGCCTCCCAGACTCTGAGCCAGAGAAAAGCAAATTACAGCTCAGGACCTCTAAGTTCTAAAAGTTGGACCTACCTCCCTTGACAGAGCTTCCAGGAGCTAAGTGCCTTTCTCTAGGTCCTTGCCCTCCCTCCATCCTTGTCCCACTCACCGAAAGACAGCTGAAGGAGTGGTAGCCAGGATTTTGCTGCCGTCTGGGGACCAGAGCAGGTTGGTCACCCCACCTCCTCGGAACCAGGGAAGGGGGACACAGGTCTCTGTTGAGACATCCCATACCTAGGAGAGTGGGGCAGGAGATAAGGGAAAACTCAAGCACCCCATCATCTCACAGTGGGCTGGCCTCTCTAATGTACAAAGAGCCAGAAACGAGAGGAAGCGGGAGAGGGACTGTGAAACATGAGGCACGGGTTCATGCTGACAATTACAGACAGCGGAATTTTAAACCTCACGAGTCTGATGGCAAAGCTCCTCTCTGGGTAAGTTTAAGACTGAATGGACCAAGGTCCCTCCTCCTTCCCCCAAGATGTTTCCACAACCGAGTGAGGAACACTTTTGCCAGGACTGAAATGTGCATGAGGGGCAGGGACCCACTCACCCGGATAGCAGCATCCACGGGTGAAGCTGAGAGCAGCCGCCCCCCACTGGGGGCCCAGGCCAAGCTGGTAACAGGTGTATGCCCAGGGTGAGACAGCACTTGGGCACAGCCAGAAGAGGGTCTGGAGGGGAACACAGAGGATGTGGAGTCAGAAGATGACAAGAAGCCATCCCCAAAATTCTATTTCTTTGCCTCCTGCTAAAACCTCCTATCCTGATGGCCCACTCTGGGCTCAAATCCAGGTTGTGAAAAAGGAATAAGGATTGTGAAAGTTAAAAGAAAAAAACAGCGAAGGGGAAAAACGACCAAGTCACCACGAGCAGGTCAACAGAGAAGAGGTAATCTGCAAGGTCTCAGGCCAGGGTGAAAGAGTGCTTTCACGAGATAGGCCATGAGGCAAAACCTAACCAGTAACCTAGAAGGTACTGCCCCTGGGGCGATATCAGGCCCTACCCCAGAACACAGCTCTCTGCCCACAGGCCATCCAGCCTGGCCATCCATCTATCCAGGATTAATAATCTATGACATTACTTCAAGGTTCCAACCTTTTCTCTCCAGTTATCTAACACTCCTCAGAACACATCCTGTGCTCCCAAACAGCCCTCCTGCCTTGCCTTATCAAAGTACCTCCCAACTCTGCAGCTCCCGCGTTTGCTCCTTATCATAAAGATGCTGCAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAAGAGATCGAGACCATTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAAAATTAGCTGGGCGTGGTGGTGTTCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGATGCAGCATGTGGCTCGGCCTCCATCACCAGCAGGGAACTACCTGAGGGCACCTGCCATGTGTCTGCAGCTGTGTATTTCCAGAGCCATGTGCCTGGCCTGACAGACGAAGGCTACTACCTGAATTAATGCCACCTCTCTTTCCACCTAACTATAACCACCTTCAGCTCCAGTGAAGTCTTAGTCATGGATGTACAATTTAATTCTCTTGAACTTTATGATAAATCACAGCTGCCTTTGCAGGTGGGTTCAGATTCATCTCATTCTTTTCAGTGGCTCCATTGTATACCACTCAATAGATGAACTATAATTTATTGAGTCATGCCTCTACAAATGGACATTTGACTTGTTTGTAATTTTTTATTATACATAATGCTGTAAAAAATATTTCCTGGGCCAGGCATGGTGGTTCACACTCCAGGATGGAGTGCAGTGACACAGTCATAGCACACTGCAGCCTCAAAGTCCTGAGGCTCCTGCCTCAGCCTCTAAAGTAGCTAGGACTACAGGCGTACACCCCACGCCCAGCTAGTTTTTTTATTTTTATTTTTTGTATAGACAGCATCTATGTTGACCAAGCTAGTCTCAAACTCCTAGGCTCAAGCGATCCATCTGCCTCAGCCTCCGAAAGTGCTGGAATTACACGCATGAGCCATCACGCCTGGCCTTGTTTTTT
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AAACCTTCCATCTCATACTGACCCAGTCCTTGACTTATTCTTGCCCTACACCATTCCAGAAACTTGTGAAAAGTGAAACAACTATTTATGTGTAAGACCCTGTGCTAGATATATTTTCTTCACAGTAACTTCTCAGCCTTGCTTCCCAAATCATTTGAAACCATAGTTTCTAGGATTAAATAACGTGACCAAATTCACAAGTGGCTAAAAAGTGACAGAACAGGGCCTTAACCCAAAGTCCATGCTTTTTTCCCCTACTGTACCCCACTGCAACTCCCTGGAAAAGACAGACTGGTAACTGAGTGGAAAACAAAAGGAAAACTTATTTATTCTTAGAGGTGGGAATGTGGGGAGTGGGGCAGAACAGGTGGTGGCCCTGGGAGAGGGTCCCAAGGGGCAGAGGTTGGGGATGTCTCAGTAAAGAGGGGCAGGTCATGAATAGAGCCTCCACCCCCAGCAGGGGGTTCCTGGGCCCGCCCAAGCACTGGGCTAAAACGTGGAAACTGGGCATTGACAAAGTACAGCGGGATGTGGGCAATTCGGCCTGTGGACCAGCCCTGCAGAGAAGGGAAAGAAAAGGATCAGAGTCTGGGCCCAAAGAAGGGCCACCTGGCAGAGCCATACAGCAGCCAAGGCCCTCAGCTTCTCCATCCAACTCCTGGAAGCCCCAGCAGCCTGGCGCACTCACCACACTGAGCAGGGCCCCTTTGTTGAAGGAAGGATGGAAAGTGATGAGCTGGGGCTGGGCTCCTGGCTCCCCCTGGATAATGCCACTAGAAGAAAAGGTGAGCAGGCAACCGGAGGCAAGAAGGGAGCTGAATGTAGTGGGATGTGGGTTTGTTTGTGCAGGAAGGCTGGTGAGAAGTCCAGACCTAAGGGCCCACATGGCACTTACCAGGGAAGGAGCTCAAACACAGGGCTGTTTCGAGTGCGAAAAAGGAGGATGACTGGTTTACCATCCTGTACCCTTGGCTTTCCTGTAAGAAATGGATCCAGGGATAGGGGAGGAACTCTGAAGGCAGAGTCCCAGGACATGGGCAGAGGAGAACTCCAGGCCAGGGCACGGCCTCATTAGATTAACTGGGAAGATGGCTGTGGGCTGAGCCCTTCATCCTTGCCTCTCACCTTTCATAAGCACAGCCAGACGTTCCCCACTGGGGTCCCAGACCATGGAGTGAGCCTCTCCCCCAAGCCTGTGGGTAAGGACAGGTTAGGAGAGTTTCAGTGTGGTCCCTCCCACCTGCTTTTCACTGCCACTCCCTCAACCACTCAGCTCACCTCTCCTCACCATCTGGTGTCTGTATTGTTGTCTCAGACAGATCTGCCACAATCGTTGCTGACTTTGCACCTCCAACGCACCCCTTTCCCTCACCTGTGGACAAATAAGAGCAGAGAGGTTCTTGCAAGAAACAGGCCTCTCACTGGTCCCCTGCCAGCTCACCAAAGGCATCAACACCTCGAAATCTCCTAAGCTTCTATATTTCCCTTTATCCCTCAGAGCTGCATCTTACCAAAGGTTGCTGCCTCCCTCTGACCACCCCAAATACTGAAGTGTTGCCCTAACTCACCACAACGTTCTGGAAAAGACAGGGAGTAAATCAGTGGCTCTCCCAATACAGTGAACAGCAGTCGGCTGCCATCTGGGCTCCAGCAGCCAGTCTGGGGTCAGGGAGCAAAAGGCAGGAGAAGGTATGTCTATAGTAGAATGCAGGAGGGAAAGTAGAGGTGGCCAGGTTTGGGAGCATCAGGGGCCCATTGGAATCATCTCCTCCCCAGTGTCTGTGAATCAGAGTCCCCTCTTACCTGACAGCGCCCTGATAGAGTAGGCCACCTCTCACAAGTCCACATCTGGGCCTCCCAGACTCTGAGCCAGAGAAAAGCAAATTACAGCTCAGGACCTCTAAGTTCTAAAAGTTGGACCTACCTCCCTTGACAGAGCTTCCAGGAGCTAAGTGCCTTTCTCTAGGTCCTTGCCCTCCCTCCATCCTTGTCCCACTCACCGAAAGACAGCTGAAGGAGTGGTAGCCAGGATTTTGCTGCCGTCTGGGTACCAGAGCAGGTTGGTCACCCCACCTCCTCGGAACCAGGGAAGGGGGACACAGGTCTCTGTTGAGACATCCCATACCTAGGAGAGTGGGGCAGGAGATAAGGGAAAACTCAAGCACCCCATCATCTCACAGTGGGCTGGCCTCTCTAATGTACAAAGAGCCAGAAACGAGAGGAAGCGGGAGAGGGACTGTGAAACATGAGGCACGGGTTCATGCTGACAATTACAGACAGCGGAATTTTAAACCTCACGAGTCTGATGGCAAAGCTCCTCTCTGGGTAAGTTTAAGACTGAATGGACCAAGGTCCCTCCTCCTTCCCCCAAGATGTTTCCACAACCGAGTGAGGAACACTTTTGCCAGGACTGAAATGTGCATGAGGGGCAGGGACCCACTCACCCGGATAGCAGCATCCACGGGTGAAGCTGAGAGCAGCCGCCCCCCACTGGGGGCCCAGGCCAAGCTGGTAACAGGTGTATGCCCAGGGTGAGACAGCACTTGGGCACAGCCAGAAGAGGGTCTGGAGGGGAACACAGAGGATGTGGAGTCAGAAGATGACAAGAAGCCATCCCCAAAATTCTATTTCTTTGCCTCCTGCTAAAACCTCCTATCCTGATGGCCCACTCTGGGCTCAAATCCAGGTTGTGAAAAAGGAATAAGGATTGTGAAAGTTAAAAGAAAAAAACAGCGAAGGGGAAAAACGACCAAGTCACCACGAGCAGGTCAACAGAGAAGAGGTAATCTGCAAGGTCTCAGGCCAGGGTGAAAGAGTGCTTTCACGAGATAGGCCATGAGGCAAAACCTAACCAGTAACCTAGAAGGTACTGCCCCTGGGGCGATATCAGGCCCTACCCCAGAACACAGCTCTCTGCCCACAGGCCATCCAGCCTGGCCATCCATCTATCCAGGATTAATAATCTATGACATTACTTCAAGGTTCCAACCTTTTCTCTCCAGTTATCTAACACTCCTCAGAACACATCCTGTGCTCCCAAACAGCCCTCCTGCCTTGCCTTATCAAAGTACCTCCCAACTCTGCAGCTCCCGCGTTTGCTCCTTATCATAAAGATGCTGCAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAAGAGATCGAGACCATTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAGTACAAAAAAATTAGCTGGGCGTGGTGGTGTTCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGATGCAGCATGTGGCTCGGCCTCCATCACCAGCAGGGAACTACCTGAGGGCACCTGCCATGTGTCTGCAGCTGTGTATTTCCAGAGCCATGTGCCTGGCCTGACAGACGAAGGCTACTACCTGAATTAATGCCACCTCTCTTTCCACCTAACTATAACCACCTTCAGCTCCAGTGAAGTCTTAGTCATGGATGTACAATTTAATTCTCTTGAACTTTATGATAAATCACAGCTGCCTTTGCAGGTGGGTTCAGATTCATCTCATTCTTTTCAGTGGCTCCATTGTATACCACTCAATAGATGAACTATAATTTATTGAGTCATGCCTCTACAAATGGACATTTGACTTGTTTGTAATTTTTTATTATACATAATGCTGTAAAAAATATTTCCTGGGCCAGGCATGGTGGTTCACACTCCAGGATGGAGTGCAGTGACACAGTCATAGCACACTGCAGCCTCAAAGTCCTGAGGCTCCTGCCTCAGCCTCTAAAGTAGCTAGGACTACAGGCGTACACCCCACGCCCAGCTAGTTTTTTTATTTTTATTTTTTGTATAGACAGCATCTATGTTGACCAAGCTAGTCTCAAACTCCTAGGCTCAAGCGATCCATCTGCCTCAGCCTCCGAAAGTGCTGGAATTACACGCATGAGCCATCACGCCTGGCCTTGTTTTTT
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Task1_train_17952
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An alteration has been detected in AAAS (aladin WD repeat nucleoporin) on Chromosome 12. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Inborn genetic diseases
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AGAGAAAAGAACATGGTTTCGCCATGTTCCCCAGGCTAGTCTCAAACTACTAAGCTCAAGCAATCTGCTGGCCTCAGCCTACCAAAGCGCTGGGATTATAGGCGTGAGTCACTGTGCCTGGCATAAATAACCCTTAAAGGAATTAATATGTGCCATTAATAGGTCCAGGTGCAGTAGCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCCTGAGGTCAGGAGGCCAGACCACCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAATACAAAAAGTTAGCTGGGCGTGGTGGCACATGCCTATAGTACCAGCTACTCGGGAGGCTGAGGCAGGGGAACTGCTTGAACCAGAGAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCTCTGCACTCCAGCCTGGCAACACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAATGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCACATCATCTGAGGTCGGAAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCTAGCTACTCGGGAGACTGAGGCAGAAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAGCTGAGCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAGAAAATGAAACCAGGTAGTGTAGCTCCACTCCTACAAGTGCAAAGTGGATGACCTATGTAGGAGATTATTCAGTGCAACCTTATATCTGATCTTGCTGAGCTTCAGGTAAAAGCTCAGAAGTGGTAATGCCATGAGGTGGGGGCAGGGAGCAGGTTCACCTAATCAAGCCAGAAAGCAAGGCAAGTTACTAGAGATGAAATGGAAGTACTTTTTCCATAGTGTTCCTGGGAAGGGCAAGGAAGGGAACCTGACATTTATTGAGCATTTGAGTTCTATAATAAGGACTAAAAATTTCATATGATTTAGGATATACAGCTCTCGTGGAGACAGCCTGAATAAAAGTCTTTTGAAGAACACCCCAAGGTAAAGGGGTGTTGACTCATTTTCCAGGATCTGCAGACTGTGACCCAGGAAACCCTTTGCCATGCCTCACCAAATGTTGATGCATCTCTTCCACACTTGCTCCCGGTGATGGATGAAGGCAGTTCTTGTGCCATGGTCCAGCCTTCCAGGGGTCTTTAGGGGATCCTTTGTCAGTTGTAGGACAGGAAGATTGATCCACTATAGCACAAAAGTGAGGAGTGTGACGGTGATTCAGTCTCTTCCCAAATCTTTAATTCCGTGCCATCTCCAACCCACCGCTGGGCTAAGTATAAGAGATTCCAGAGGTCTGTTTCCCATTTCCACAAAGCTAACACTTGTGAGAATGGGAAACAAGTCTTAGCTCCCGTATCTGTGCAACTAGAATAATATTTCATAGGGTTGCTGTGATTATGAAACCATATGACATTTTTAGAAAACACCTGACTCAGCCTCTTTCTTACATAGCAAACGCTCAATAAATGTCAGTTTCCCTTCCTTGTCCTTCCCAGGAACACCATGGAAAAAAGTTCCATGTTGTATCCTTCTGATCCTCCCCAGATACTGTCCCCAACTTTTAGATAGTTCTCCCGCATCCTCACACTCCCTAGATTCTCCCTCATTCTCTCCATTCCCTCTAGGCCTCCTCCACAGCTCCTTAACCGTTCCCCCGTTATACTCCAATCCCAGTCCTAAAACAGATTCCAGCCCTTCTAGCCTCCTGCCGGGGCCAAGCTGTTTCCACTCCGCCAGACTCTGTGACCCTGCCCCTGTCACACTGCCTCCTTTCCCCAGTAGTCCCCGACTCCGCCCCCATGCCTGTAGGTCCCCTCCCTCCTCGCCCTGGCCACCTGGCCCCGGAAGTCGGGGGGCGGGCTCTCATAGCTACTGCCCGTCACCAGCTCGTTATTGTGCTCATATAGGGTGACTTGACCCCGAGGCGGTGGAGGAGGGAACAACCCCAGAGAGCACATCTTGCCGGTTCGCAGGACGTCTGCAGTCGGCAAACTCCTGGCCGGAACGGCACAGACCGCACTCCCGCAACTCGGTTCCCGGGCTAGATTCGTATGCGGACGGGTACCGCAAGGGACAAACGGCGAGGCGGAACTCAACGGAAGTGAAGAAAAGACTAACGGGAAAGAAGGACGAGTACGCGGTCCCGGGACAGACCTCCAAAGCTTCTTCCTGCGCCCCCTGGCGGCCGGAGGGGGAGCAGCGCGGACACGTCCCCCGGCCAACCGTTGGTTACCAGGCTGGAGTGGGGTTTTTTTCTGTTGTTTTCCATGAGACTACTGTTTTTCCCAGCTCCGAATTCCCGAACACCTTCTCCCACTCACTATCTTAGCGCTTAGAAAGCCCGAAATAAGCCACATTCAGGGAAGTACCAAATTAATCCTCCCAGGCCTGTGGATCACCCAGAGGAAAATACAGGCTATGTCACAGGCAGCTGGCTGGAAAGCTGAGGGAAAAGCCTCAGAGAGGAGGAACAGTGCTGCACCCACACGGTTAGGCGTCCTGGAAAGGGAGGTGGGGACGGTTGGAAAACTAACATTTCCTGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCATCTGAAAGGAGTTCGCAGACTAGCCTGGCCAACATGCTGAAAACCCCATCTATACTAAAAATACAAAAATTAGTCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATCTCTTGAACTCCGGAGGGGGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGTAACAAGAGGGAAACTTCGTCTCAAAAAGGAAAACTTTATTTTATTTTATTTTTTTGAGAGACAGGGTCTCGCTCTATTGCCCAGGATGAAGGCAGTGGTGCTATCTCAGCTCACTGCAACCTCTGCCTCCCCGGTTCAAGCGATTATCCTGCCTCAACCTCTGGAGTAGCTGGGATTACAGGCATGCTTCACCACGCCCAGCTAAGTTTGTATTTTTAGTAGAGACGAGGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCTTTGGCCTCCCAAATTGCTGGGATTACAGGCCTGAGCCACCTTGCCGGGCTGCAAAACTATTTCCTGAGCACTTGTTACGATAAGTGCTTTTATAATCTTTACAACCCCATAAGGTGGGTGCTGTTCTGTCACCATGAGGAAAGTGAGTCACAGAGAGATTGGACCTAGATACACCCAAACCAGTTATTCTCACTTAAGAATAAAAGTAAGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGATCTCTTGAGCCCAGGAGTTCAAGACCAGCTTGGGCAAAATAGCAAGACCCTGTATCTACAAAAAATTCAAAAGTTAGCCAGCGTGGTGGTGGCAAGCGTCTTTAGTCCAGCTACTCAGAAGGCTGAGATAGGAGAATCCAGACTACAATGATCCAAGATAGCACCACTGCACTCCAGCCTGGGTCAAAGAGCGAGACCCTGTCAAGCAAGCCAGAGAGAAAGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGCTGATCCCCTGAGGTCGGGATTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAACCAGCCAGGCATTGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCATCCAACCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAACAAAAAACAAAACAAAACAAAAAAAAATGGGAGGGAAGGGAGAGGGAGAAAGAAAGGAAAGAAAGAAAGAGAATGGGGGCCCCTCTT
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AGAGAAAAGAACATGGTTTCGCCATGTTCCCCAGGCTAGTCTCAAACTACTAAGCTCAAGCAATCTGCTGGCCTCAGCCTACCAAAGCGCTGGGATTATAGGCGTGAGTCACTGTGCCTGGCATAAATAACCCTTAAAGGAATTAATATGTGCCATTAATAGGTCCAGGTGCAGTAGCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCCTGAGGTCAGGAGGCCAGACCACCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAATACAAAAAGTTAGCTGGGCGTGGTGGCACATGCCTATAGTACCAGCTACTCGGGAGGCTGAGGCAGGGGAACTGCTTGAACCAGAGAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCTCTGCACTCCAGCCTGGCAACACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAATGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCACATCATCTGAGGTCGGAAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCTAGCTACTCGGGAGACTGAGGCAGAAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAGCTGAGCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAGAAAATGAAACCAGGTAGTGTAGCTCCACTCCTACAAGTGCAAAGTGGATGACCTATGTAGGAGATTATTCAGTGCAACCTTATATCTGATCTTGCTGAGCTTCAGGTAAAAGCTCAGAAGTGGTAATGCCATGAGGTGGGGGCAGGGAGCAGGTTCACCTAATCAAGCCAGAAAGCAAGGCAAGTTACTAGAGATGAAATGGAAGTACTTTTTCCATAGTGTTCCTGGGAAGGGCAAGGAAGGGAACCTGACATTTATTGAGCATTTGAGTTCTATAATAAGGACTAAAAATTTCATATGATTTAGGATATACAGCTCTCGTGGAGACAGCCTGAATAAAAGTCTTTTGAAGAACACCCCAAGGTAAAGGGGTGTTGACTCATTTTCCAGGATCTGCAGACTGTGACCCAGGAAACCCTTTGCCATGCCTCACCAAATGTTGATGCATCTCTTCCACACTTGCTCCCGGTGATGGATGAAGGCAGTTCTTGTGCCATGGTCCAGCCTTCCAGGGGTCTTTAGGGGATCCTTTGTCAGTTGTAGGACAGGAAGATTGATCCACTATAGCACAAAAGTGAGGAGTGTGACGGTGATTCAGTCTCTTCCCAAATCTTTAATTCCGTGCCATCTCCAACCCACCGCTGGGCTAAGTATAAGAGATTCCAGAGGTCTGTTTCCCATTTCCACAAAGCTAACACTTGTGAGAATGGGAAACAAGTCTTAGCTCCCGTATCTGTGCAACTAGAATAATATTTCATAGGGTTGCTGTGATTATGAAACCATATGACATTTTTAGAAAACACCTGACTCAGCCTCTTTCTTACATAGCAAACGCTCAATAAATGTCAGTTTCCCTTCCTTGTCCTTCCCAGGAACACCATGGAAAAAAGTTCCATGTTGTATCCTTCTGATCCTCCCCAGATACTGTCCCCAACTTTTAGATAGTTCTCCCGCATCCTCACACTCCCTAGATTCTCCCTCATTCTCTCCATTCCCTCTAGGCCTCCTCCACAGCTCCTTAACCGTTCCCCCGTTATACTCCAATCCCAGTCCTAAAACAGATTCCAGCCCTTCTAGCCTCCTGCCGGGGCCAAGCTGTTTCCACTCCGCCAGACTCTGTGACCCTGCCCCTGTCACACTGCCTCCTTTCCCCAGTAGTCCCCGACTCCGCCCCCATGCCTGTAGGTCCCCTCCCTCCTCGCCCTGGCCACCTGGCCCCGGAAGTCGGGGGGCGGGCTCTCATAGCTACTGCCCGTCACCAGCTCGTTATTGTGCTCATATAGGGTGACTTTACCCCGAGGCGGTGGAGGAGGGAACAACCCCAGAGAGCACATCTTGCCGGTTCGCAGGACGTCTGCAGTCGGCAAACTCCTGGCCGGAACGGCACAGACCGCACTCCCGCAACTCGGTTCCCGGGCTAGATTCGTATGCGGACGGGTACCGCAAGGGACAAACGGCGAGGCGGAACTCAACGGAAGTGAAGAAAAGACTAACGGGAAAGAAGGACGAGTACGCGGTCCCGGGACAGACCTCCAAAGCTTCTTCCTGCGCCCCCTGGCGGCCGGAGGGGGAGCAGCGCGGACACGTCCCCCGGCCAACCGTTGGTTACCAGGCTGGAGTGGGGTTTTTTTCTGTTGTTTTCCATGAGACTACTGTTTTTCCCAGCTCCGAATTCCCGAACACCTTCTCCCACTCACTATCTTAGCGCTTAGAAAGCCCGAAATAAGCCACATTCAGGGAAGTACCAAATTAATCCTCCCAGGCCTGTGGATCACCCAGAGGAAAATACAGGCTATGTCACAGGCAGCTGGCTGGAAAGCTGAGGGAAAAGCCTCAGAGAGGAGGAACAGTGCTGCACCCACACGGTTAGGCGTCCTGGAAAGGGAGGTGGGGACGGTTGGAAAACTAACATTTCCTGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCATCTGAAAGGAGTTCGCAGACTAGCCTGGCCAACATGCTGAAAACCCCATCTATACTAAAAATACAAAAATTAGTCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATCTCTTGAACTCCGGAGGGGGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGTAACAAGAGGGAAACTTCGTCTCAAAAAGGAAAACTTTATTTTATTTTATTTTTTTGAGAGACAGGGTCTCGCTCTATTGCCCAGGATGAAGGCAGTGGTGCTATCTCAGCTCACTGCAACCTCTGCCTCCCCGGTTCAAGCGATTATCCTGCCTCAACCTCTGGAGTAGCTGGGATTACAGGCATGCTTCACCACGCCCAGCTAAGTTTGTATTTTTAGTAGAGACGAGGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCTTTGGCCTCCCAAATTGCTGGGATTACAGGCCTGAGCCACCTTGCCGGGCTGCAAAACTATTTCCTGAGCACTTGTTACGATAAGTGCTTTTATAATCTTTACAACCCCATAAGGTGGGTGCTGTTCTGTCACCATGAGGAAAGTGAGTCACAGAGAGATTGGACCTAGATACACCCAAACCAGTTATTCTCACTTAAGAATAAAAGTAAGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGATCTCTTGAGCCCAGGAGTTCAAGACCAGCTTGGGCAAAATAGCAAGACCCTGTATCTACAAAAAATTCAAAAGTTAGCCAGCGTGGTGGTGGCAAGCGTCTTTAGTCCAGCTACTCAGAAGGCTGAGATAGGAGAATCCAGACTACAATGATCCAAGATAGCACCACTGCACTCCAGCCTGGGTCAAAGAGCGAGACCCTGTCAAGCAAGCCAGAGAGAAAGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGCTGATCCCCTGAGGTCGGGATTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAACCAGCCAGGCATTGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCATCCAACCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAACAAAAAACAAAACAAAACAAAAAAAAATGGGAGGGAAGGGAGAGGGAGAAAGAAAGGAAAGAAAGAAAGAGAATGGGGGCCCCTCTT
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Task1_train_17953
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Here is a variant affecting AAAS (aladin WD repeat nucleoporin) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Glucocorticoid deficiency with achalasia
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AGAGAAAAGAACATGGTTTCGCCATGTTCCCCAGGCTAGTCTCAAACTACTAAGCTCAAGCAATCTGCTGGCCTCAGCCTACCAAAGCGCTGGGATTATAGGCGTGAGTCACTGTGCCTGGCATAAATAACCCTTAAAGGAATTAATATGTGCCATTAATAGGTCCAGGTGCAGTAGCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCCTGAGGTCAGGAGGCCAGACCACCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAATACAAAAAGTTAGCTGGGCGTGGTGGCACATGCCTATAGTACCAGCTACTCGGGAGGCTGAGGCAGGGGAACTGCTTGAACCAGAGAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCTCTGCACTCCAGCCTGGCAACACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAATGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCACATCATCTGAGGTCGGAAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCTAGCTACTCGGGAGACTGAGGCAGAAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAGCTGAGCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAGAAAATGAAACCAGGTAGTGTAGCTCCACTCCTACAAGTGCAAAGTGGATGACCTATGTAGGAGATTATTCAGTGCAACCTTATATCTGATCTTGCTGAGCTTCAGGTAAAAGCTCAGAAGTGGTAATGCCATGAGGTGGGGGCAGGGAGCAGGTTCACCTAATCAAGCCAGAAAGCAAGGCAAGTTACTAGAGATGAAATGGAAGTACTTTTTCCATAGTGTTCCTGGGAAGGGCAAGGAAGGGAACCTGACATTTATTGAGCATTTGAGTTCTATAATAAGGACTAAAAATTTCATATGATTTAGGATATACAGCTCTCGTGGAGACAGCCTGAATAAAAGTCTTTTGAAGAACACCCCAAGGTAAAGGGGTGTTGACTCATTTTCCAGGATCTGCAGACTGTGACCCAGGAAACCCTTTGCCATGCCTCACCAAATGTTGATGCATCTCTTCCACACTTGCTCCCGGTGATGGATGAAGGCAGTTCTTGTGCCATGGTCCAGCCTTCCAGGGGTCTTTAGGGGATCCTTTGTCAGTTGTAGGACAGGAAGATTGATCCACTATAGCACAAAAGTGAGGAGTGTGACGGTGATTCAGTCTCTTCCCAAATCTTTAATTCCGTGCCATCTCCAACCCACCGCTGGGCTAAGTATAAGAGATTCCAGAGGTCTGTTTCCCATTTCCACAAAGCTAACACTTGTGAGAATGGGAAACAAGTCTTAGCTCCCGTATCTGTGCAACTAGAATAATATTTCATAGGGTTGCTGTGATTATGAAACCATATGACATTTTTAGAAAACACCTGACTCAGCCTCTTTCTTACATAGCAAACGCTCAATAAATGTCAGTTTCCCTTCCTTGTCCTTCCCAGGAACACCATGGAAAAAAGTTCCATGTTGTATCCTTCTGATCCTCCCCAGATACTGTCCCCAACTTTTAGATAGTTCTCCCGCATCCTCACACTCCCTAGATTCTCCCTCATTCTCTCCATTCCCTCTAGGCCTCCTCCACAGCTCCTTAACCGTTCCCCCGTTATACTCCAATCCCAGTCCTAAAACAGATTCCAGCCCTTCTAGCCTCCTGCCGGGGCCAAGCTGTTTCCACTCCGCCAGACTCTGTGACCCTGCCCCTGTCACACTGCCTCCTTTCCCCAGTAGTCCCCGACTCCGCCCCCATGCCTGTAGGTCCCCTCCCTCCTCGCCCTGGCCACCTGGCCCCGGAAGTCGGGGGGCGGGCTCTCATAGCTACTGCCCGTCACCAGCTCGTTATTGTGCTCATATAGGGTGACTTGACCCCGAGGCGGTGGAGGAGGGAACAACCCCAGAGAGCACATCTTGCCGGTTCGCAGGACGTCTGCAGTCGGCAAACTCCTGGCCGGAACGGCACAGACCGCACTCCCGCAACTCGGTTCCCGGGCTAGATTCGTATGCGGACGGGTACCGCAAGGGACAAACGGCGAGGCGGAACTCAACGGAAGTGAAGAAAAGACTAACGGGAAAGAAGGACGAGTACGCGGTCCCGGGACAGACCTCCAAAGCTTCTTCCTGCGCCCCCTGGCGGCCGGAGGGGGAGCAGCGCGGACACGTCCCCCGGCCAACCGTTGGTTACCAGGCTGGAGTGGGGTTTTTTTCTGTTGTTTTCCATGAGACTACTGTTTTTCCCAGCTCCGAATTCCCGAACACCTTCTCCCACTCACTATCTTAGCGCTTAGAAAGCCCGAAATAAGCCACATTCAGGGAAGTACCAAATTAATCCTCCCAGGCCTGTGGATCACCCAGAGGAAAATACAGGCTATGTCACAGGCAGCTGGCTGGAAAGCTGAGGGAAAAGCCTCAGAGAGGAGGAACAGTGCTGCACCCACACGGTTAGGCGTCCTGGAAAGGGAGGTGGGGACGGTTGGAAAACTAACATTTCCTGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCATCTGAAAGGAGTTCGCAGACTAGCCTGGCCAACATGCTGAAAACCCCATCTATACTAAAAATACAAAAATTAGTCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATCTCTTGAACTCCGGAGGGGGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGTAACAAGAGGGAAACTTCGTCTCAAAAAGGAAAACTTTATTTTATTTTATTTTTTTGAGAGACAGGGTCTCGCTCTATTGCCCAGGATGAAGGCAGTGGTGCTATCTCAGCTCACTGCAACCTCTGCCTCCCCGGTTCAAGCGATTATCCTGCCTCAACCTCTGGAGTAGCTGGGATTACAGGCATGCTTCACCACGCCCAGCTAAGTTTGTATTTTTAGTAGAGACGAGGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCTTTGGCCTCCCAAATTGCTGGGATTACAGGCCTGAGCCACCTTGCCGGGCTGCAAAACTATTTCCTGAGCACTTGTTACGATAAGTGCTTTTATAATCTTTACAACCCCATAAGGTGGGTGCTGTTCTGTCACCATGAGGAAAGTGAGTCACAGAGAGATTGGACCTAGATACACCCAAACCAGTTATTCTCACTTAAGAATAAAAGTAAGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGATCTCTTGAGCCCAGGAGTTCAAGACCAGCTTGGGCAAAATAGCAAGACCCTGTATCTACAAAAAATTCAAAAGTTAGCCAGCGTGGTGGTGGCAAGCGTCTTTAGTCCAGCTACTCAGAAGGCTGAGATAGGAGAATCCAGACTACAATGATCCAAGATAGCACCACTGCACTCCAGCCTGGGTCAAAGAGCGAGACCCTGTCAAGCAAGCCAGAGAGAAAGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGCTGATCCCCTGAGGTCGGGATTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAACCAGCCAGGCATTGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCATCCAACCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAACAAAAAACAAAACAAAACAAAAAAAAATGGGAGGGAAGGGAGAGGGAGAAAGAAAGGAAAGAAAGAAAGAGAATGGGGGCCCCTCTT
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AGAGAAAAGAACATGGTTTCGCCATGTTCCCCAGGCTAGTCTCAAACTACTAAGCTCAAGCAATCTGCTGGCCTCAGCCTACCAAAGCGCTGGGATTATAGGCGTGAGTCACTGTGCCTGGCATAAATAACCCTTAAAGGAATTAATATGTGCCATTAATAGGTCCAGGTGCAGTAGCTGTAATCTCAGCACTTTGGGAGGCCAAGGCAGGCCTGAGGTCAGGAGGCCAGACCACCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAATACAAAAAGTTAGCTGGGCGTGGTGGCACATGCCTATAGTACCAGCTACTCGGGAGGCTGAGGCAGGGGAACTGCTTGAACCAGAGAGGCGGAGGCTGCAGTGAGCCGAGATCGCACCTCTGCACTCCAGCCTGGCAACACAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAATGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCACATCATCTGAGGTCGGAAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCTAGCTACTCGGGAGACTGAGGCAGAAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAGCTGAGCACGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAGAAAATGAAACCAGGTAGTGTAGCTCCACTCCTACAAGTGCAAAGTGGATGACCTATGTAGGAGATTATTCAGTGCAACCTTATATCTGATCTTGCTGAGCTTCAGGTAAAAGCTCAGAAGTGGTAATGCCATGAGGTGGGGGCAGGGAGCAGGTTCACCTAATCAAGCCAGAAAGCAAGGCAAGTTACTAGAGATGAAATGGAAGTACTTTTTCCATAGTGTTCCTGGGAAGGGCAAGGAAGGGAACCTGACATTTATTGAGCATTTGAGTTCTATAATAAGGACTAAAAATTTCATATGATTTAGGATATACAGCTCTCGTGGAGACAGCCTGAATAAAAGTCTTTTGAAGAACACCCCAAGGTAAAGGGGTGTTGACTCATTTTCCAGGATCTGCAGACTGTGACCCAGGAAACCCTTTGCCATGCCTCACCAAATGTTGATGCATCTCTTCCACACTTGCTCCCGGTGATGGATGAAGGCAGTTCTTGTGCCATGGTCCAGCCTTCCAGGGGTCTTTAGGGGATCCTTTGTCAGTTGTAGGACAGGAAGATTGATCCACTATAGCACAAAAGTGAGGAGTGTGACGGTGATTCAGTCTCTTCCCAAATCTTTAATTCCGTGCCATCTCCAACCCACCGCTGGGCTAAGTATAAGAGATTCCAGAGGTCTGTTTCCCATTTCCACAAAGCTAACACTTGTGAGAATGGGAAACAAGTCTTAGCTCCCGTATCTGTGCAACTAGAATAATATTTCATAGGGTTGCTGTGATTATGAAACCATATGACATTTTTAGAAAACACCTGACTCAGCCTCTTTCTTACATAGCAAACGCTCAATAAATGTCAGTTTCCCTTCCTTGTCCTTCCCAGGAACACCATGGAAAAAAGTTCCATGTTGTATCCTTCTGATCCTCCCCAGATACTGTCCCCAACTTTTAGATAGTTCTCCCGCATCCTCACACTCCCTAGATTCTCCCTCATTCTCTCCATTCCCTCTAGGCCTCCTCCACAGCTCCTTAACCGTTCCCCCGTTATACTCCAATCCCAGTCCTAAAACAGATTCCAGCCCTTCTAGCCTCCTGCCGGGGCCAAGCTGTTTCCACTCCGCCAGACTCTGTGACCCTGCCCCTGTCACACTGCCTCCTTTCCCCAGTAGTCCCCGACTCCGCCCCCATGCCTGTAGGTCCCCTCCCTCCTCGCCCTGGCCACCTGGCCCCGGAAGTCGGGGGGCGGGCTCTCATAGCTACTGCCCGTCACCAGCTCGTTATTGTGCTCATATAGGGTGACTTTACCCCGAGGCGGTGGAGGAGGGAACAACCCCAGAGAGCACATCTTGCCGGTTCGCAGGACGTCTGCAGTCGGCAAACTCCTGGCCGGAACGGCACAGACCGCACTCCCGCAACTCGGTTCCCGGGCTAGATTCGTATGCGGACGGGTACCGCAAGGGACAAACGGCGAGGCGGAACTCAACGGAAGTGAAGAAAAGACTAACGGGAAAGAAGGACGAGTACGCGGTCCCGGGACAGACCTCCAAAGCTTCTTCCTGCGCCCCCTGGCGGCCGGAGGGGGAGCAGCGCGGACACGTCCCCCGGCCAACCGTTGGTTACCAGGCTGGAGTGGGGTTTTTTTCTGTTGTTTTCCATGAGACTACTGTTTTTCCCAGCTCCGAATTCCCGAACACCTTCTCCCACTCACTATCTTAGCGCTTAGAAAGCCCGAAATAAGCCACATTCAGGGAAGTACCAAATTAATCCTCCCAGGCCTGTGGATCACCCAGAGGAAAATACAGGCTATGTCACAGGCAGCTGGCTGGAAAGCTGAGGGAAAAGCCTCAGAGAGGAGGAACAGTGCTGCACCCACACGGTTAGGCGTCCTGGAAAGGGAGGTGGGGACGGTTGGAAAACTAACATTTCCTGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCATCTGAAAGGAGTTCGCAGACTAGCCTGGCCAACATGCTGAAAACCCCATCTATACTAAAAATACAAAAATTAGTCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTAATCGGGAGGCTGAGGCAGGAGAATCTCTTGAACTCCGGAGGGGGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGTAACAAGAGGGAAACTTCGTCTCAAAAAGGAAAACTTTATTTTATTTTATTTTTTTGAGAGACAGGGTCTCGCTCTATTGCCCAGGATGAAGGCAGTGGTGCTATCTCAGCTCACTGCAACCTCTGCCTCCCCGGTTCAAGCGATTATCCTGCCTCAACCTCTGGAGTAGCTGGGATTACAGGCATGCTTCACCACGCCCAGCTAAGTTTGTATTTTTAGTAGAGACGAGGTTTTACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCCTGCTTTGGCCTCCCAAATTGCTGGGATTACAGGCCTGAGCCACCTTGCCGGGCTGCAAAACTATTTCCTGAGCACTTGTTACGATAAGTGCTTTTATAATCTTTACAACCCCATAAGGTGGGTGCTGTTCTGTCACCATGAGGAAAGTGAGTCACAGAGAGATTGGACCTAGATACACCCAAACCAGTTATTCTCACTTAAGAATAAAAGTAAGGCTGGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGATCTCTTGAGCCCAGGAGTTCAAGACCAGCTTGGGCAAAATAGCAAGACCCTGTATCTACAAAAAATTCAAAAGTTAGCCAGCGTGGTGGTGGCAAGCGTCTTTAGTCCAGCTACTCAGAAGGCTGAGATAGGAGAATCCAGACTACAATGATCCAAGATAGCACCACTGCACTCCAGCCTGGGTCAAAGAGCGAGACCCTGTCAAGCAAGCCAGAGAGAAAGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGTGGGCTGATCCCCTGAGGTCGGGATTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAACCAGCCAGGCATTGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCCCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCATCCAACCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAACAAAAAACAAAACAAAACAAAAAAAAATGGGAGGGAAGGGAGAGGGAGAAAGAAAGGAAAGAAAGAAAGAGAATGGGGGCCCCTCTT
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Task1_train_17954
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Gene SP7 (Sp7 transcription factor), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Osteogenesis imperfecta type 12
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GCGAGCATAGGTGAGCAAACGTGCACAATAGAATATTCGCCCATGAGTAGTCCCCAATTTGCTAAGGAAAAAAAACCATTGGCCCTCGCTTCACCCTTCCTCTTCTCCTTTTCTCACCAGGACAAAATTTCAAATCCAACTTTTATTTATTAAATTAAAAAAAAAAGACTCCACAAAGGGCATGATCCCTTCCATTCCACAATGTTCTCTCCCCAAGCTCCAGCGGCTTTAACCCTTTAACTTGGGGCCTTGAGACAGCAGGGGACAGAAAAGGAGGATCCAACGTTACAGGAAAGGCACGAAGCGGCTTTAAAAGTCACTGGAGGTGGAGATGGGAGCATCCAAAGTCCCAGGGTGGGGGTGCGTGGATGCACCACCAGATCAGCTTGGGGGCCTCTGTCCTCCTAGCTCTTTAAGTTCTTTCTCAGGGCTTCTAGGCACCAGATCTAGCATAGTGCCTTGCACAGAGTAGGCACTCAATACATACTTATTTGAATCTGATCCTAGAGAAAGCCTTCCCCACCCATTCTTCAGGAGGTGCACCCCCAAACCAATGTCCTCCTGTTAGATGGGCTTCCCCAAAGAGCACATCTAAGATGGCAGCTGCAAGCTCTCCATAACCATGGCAACAGGGGATTAACCTGATGGGGTCATGGTGTCTAAGGGGTGGGGCAGTGGAGGAACCTGCTCTGCAGTCAAGGGAGATGGGGTACATTCCAGTCCTTCTCCCCTCCATAGGACTTGAGGTTTCACAGCTTCTGGCTGGGGCTGGGGATATTAGGGATCCCCCTAATCAAGAGATACCCCATCAACTGTTTAGCAGAGATGTAGCTAACCCAATTTGTAGAGACTTCATTACAAGAGAAACCCTATCAACTGAGATTCTGATGATAGACATTCTATTAACAAGATCTTCTCCACTAACATTTTGTCTATACAGAGATGCATTTGACTAGAATTTCCTTAGCAGAAATGGATCCACTTCCCTCCCCAGCTCACTCTACCTGACCCGTCATCATAACTTACATAAATAGAATTATTACTATTCATTACTCCTGGTACATAGGGGTTAAATATACAGGCCTGGGGGCAGCCTCCCTGACCCTGGGGTCACCCCATCTTTGGGATCAGATCCCCACTGGTCTGCCCCCCTCTTGGCACCCTCTGGCCAGGTCACTAACCCCAATACCCCTGATGAAGAGGCCACCAGGGGGCAATAAATTATCATTATCATTGTGTTTGTAAAAAGGAAAAAAGAGTTCTGGAGAATGGAAAGCAATGGTGTAAGAAGTTGGGAAGACTGAAGCCTGGAGGCTGAGGGACAGCAGGAAATAAGCTTGAGAAGCAGAAAGGGGTACATGTCAAGGAGTGAGATGGAGAAATAGTGTTGGGAGCCCAAATAGAAAGTGTGTTGGTGTGGCAGGGCCAGAGTCTAGGAAGCCGGAGTGCAGGTATCAGGCACAAGGGGAGGGCCTGAGATGAGAGTTTGTGGAAAGCCAGTCTCATGGTGAAGAGAGAAGGTGAGCTGAGGAGGCATGCAAGGAGATACCCAAGCCCAGAATGGCCAGGAGGGAGACAGAGGGAGAGAGCCCCGAAGGATGGCATGCATGGGGTAAAGAGAGTGATTGGCAAGCAGTGGTCTAGAGAGCCAAGAGAGACTGTCAGGGCAGCCCTGGGGTGGGAGACCTTCCACCCGGCTCAGATCTCCAGCAAGTTGCTCTGCTCAGGGCTGCCTCCAGGGGCTTTCTCTGGGGTTGCTGGCGAGGCAGAAGGTCGGGGCGTCTGACTGGCCTCCTCTTCCCCCGTGCTGCGGCCCTCCCCCAGCTCCTTGGGGCCACTGGGAGGGGGACCCGGGCCTGGTTCTCCATGGGTGCGCTGGTGTTTGCTCAGGTGGTCGCTTCGGGTAAAGCGCTTGGAGCAGAGCAGGCAGGTGAACTTCTTCTCCCGGGTGTGAGTGCGCACATGACGCTCCAGCTCATCCGAACGAGTGAACCTCTTGCCGCAGAAGAGCCAGTTGCAGACGAAGGGCCTCTCGCCTGTGTGCCAGCGCAAGTGGGCCTTCAGGTGCGAAGCCTTGCCATACACCTTGCCGCAGCCAGGGATGTGGCAGCTGTGGATGGGCTTCTTCCGCAGCCCAGCCGCTGCTGCTCCCAGCCGCTCTAGCTCCTGGCAATTAGGGCAGTCGCAGGAGGAGCGCCCTGCCCCACTGCCCCCATATCCACCACTACCCCCAGTGCTTGCACCCCGTGGGGGTTTGGCTCCACCACTCCCTTCTAGCTGCCCACTATTTCCCACTGCCTTGGGTTTATAGACATCTTGGGGCAAGACATGCTGGGGCCCTGGTTGCAAGAGGTGGGGAGCTGGGTAGGGGGCTGGATTAAGGGGAGCAAAGTCAGATGGGTAGGTGGGCAGCTGGGGGTTCAGTGGAGGCTGAGCTGGACCTGTGGGCAGTGTCCCTTGCAGCCCATCACCCTGGCCCTGCCCACCACCTAGCCAGTTGCCTCCAGGGTGCATATCCCACCATGGAGTAGGAGTGTTGCCTGGGCCTGGTGAAATGCCTGCATGGATGCCTGCCTTGTACCAGGAGCCATAGGGGTGTGTCATGTCCAGAGAGGTGTAGACACTGGGCAGACAGTCAGAAGAGCTGTGCCCCTTGGGCACTAGTAGCCCAGGGTCCTGGGTGCCTGTGGGCCCAGGGAATGAGTGGGAAAAGGGAGGGTAATCATTAGCATAGCCTGAGGTGGGTGCTGGAGGACTGCCTGCAGGTGAAAGGAGCCCATTAGTGCTTGTAAAGGGGGCTGGATAAGCATCCCCCATGGTTTTGGAGGCTGAAAGGTCACTGCCCACAGAGTACGGCTTCTTTGTGCCTGCTTTGCCCAGAGTTGTTGAGTCCCGCAGAGGGCTAGAGCCACCAAATTTGCTGCACGCTGCCGTCAGCATGGCCAGGGGACTGGAGCCATAGTGAACTTCCTCCTGTGGAAAGAGGGACGCACTGCTTAGGGAGAGGGGAGGAGAGGTACAAAATGAAGGGCAACACTTTAGGACTGAGACCTAGAGACATCCACAACAGAACAGAGGGGTCAGGGAAGAGTTGAAGAGGGTGGAGAATTACAGGTAAAAGAGGTTAGCCAGTGAGGGCTGGACCTCAGGGCAGACTCATGGAGTCGTGGGAAGAAGAACAGAGGCCCAAGACTGCAGCTCAGTATCCCAACCCAGAAGGCAGGAAGCAGAGCTCATTCTGGAGTTGCTAGGGGTGTACTAGGGGCCTCCAAGGAACAGGAGGTTCTTTTTCTTTTTTTTTGAGATGGAGTCTCGCTGTTGTCGCCCAGGTTGGAGTGCAATGGTGTGACCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCCCCTGCCTCAGCCTCCGGAGGAGTTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAAACAGGGTTTTGCCATGTTGACCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCTTTTCTTTTTATTTAAAAAAAAAATTATTTTTTGAGACAAAGTCTTGTTCTGTCACCCAGGCTGGAATGCAGTGGCCCAATCTCGGCTCACTGCAAACTTTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCACATAGCTGGGATTACAGCCGCACGCCACCACATTGAGCTATTTTGTATTTTTAGTACAGACGCAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGATGACCTCAAGTGACCCAAAACTCCTGACCTCAACCTCCCAAAGTGTTGAGATTACAGGTGTGAGCCACCGCACCCAGCCAAAAAAATATTTTTAGAGACAGGGTCTCACTCTGTCTCCCAAGCTGGATGGAGTGCAGTAGCACCATCACAGCTCACTGTAGCCTCAAACTTCTTTCTGGGCTCCAAGCGATCCTCCACCCTCAGCCTCCAGAGTAGTTAGGACTACAGGCACACACCAGGGGCTCTTTTTAAATGGCTGTGAGAAGAACT
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GCGAGCATAGGTGAGCAAACGTGCACAATAGAATATTCGCCCATGAGTAGTCCCCAATTTGCTAAGGAAAAAAAACCATTGGCCCTCGCTTCACCCTTCCTCTTCTCCTTTTCTCACCAGGACAAAATTTCAAATCCAACTTTTATTTATTAAATTAAAAAAAAAAGACTCCACAAAGGGCATGATCCCTTCCATTCCACAATGTTCTCTCCCCAAGCTCCAGCGGCTTTAACCCTTTAACTTGGGGCCTTGAGACAGCAGGGGACAGAAAAGGAGGATCCAACGTTACAGGAAAGGCACGAAGCGGCTTTAAAAGTCACTGGAGGTGGAGATGGGAGCATCCAAAGTCCCAGGGTGGGGGTGCGTGGATGCACCACCAGATCAGCTTGGGGGCCTCTGTCCTCCTAGCTCTTTAAGTTCTTTCTCAGGGCTTCTAGGCACCAGATCTAGCATAGTGCCTTGCACAGAGTAGGCACTCAATACATACTTATTTGAATCTGATCCTAGAGAAAGCCTTCCCCACCCATTCTTCAGGAGGTGCACCCCCAAACCAATGTCCTCCTGTTAGATGGGCTTCCCCAAAGAGCACATCTAAGATGGCAGCTGCAAGCTCTCCATAACCATGGCAACAGGGGATTAACCTGATGGGGTCATGGTGTCTAAGGGGTGGGGCAGTGGAGGAACCTGCTCTGCAGTCAAGGGAGATGGGGTACATTCCAGTCCTTCTCCCCTCCATAGGACTTGAGGTTTCACAGCTTCTGGCTGGGGCTGGGGATATTAGGGATCCCCCTAATCAAGAGATACCCCATCAACTGTTTAGCAGAGATGTAGCTAACCCAATTTGTAGAGACTTCATTACAAGAGAAACCCTATCAACTGAGATTCTGATGATAGACATTCTATTAACAAGATCTTCTCCACTAACATTTTGTCTATACAGAGATGCATTTGACTAGAATTTCCTTAGCAGAAATGGATCCACTTCCCTCCCCAGCTCACTCTACCTGACCCGTCATCATAACTTACATAAATAGAATTATTACTATTCATTACTCCTGGTACATAGGGGTTAAATATACAGGCCTGGGGGCAGCCTCCCTGACCCTGGGGTCACCCCATCTTTGGGATCAGATCCCCACTGGTCTGCCCCCCTCTTGGCACCCTCTGGCCAGGTCACTAACCCCAATACCCCTGATGAAGAGGCCACCAGGGGGCAATAAATTATCATTATCATTGTGTTTGTAAAAAGGAAAAAAGAGTTCTGGAGAATGGAAAGCAATGGTGTAAGAAGTTGGGAAGACTGAAGCCTGGAGGCTGAGGGACAGCAGGAAATAAGCTTGAGAAGCAGAAAGGGGTACATGTCAAGGAGTGAGATGGAGAAATAGTGTTGGGAGCCCAAATAGAAAGTGTGTTGGTGTGGCAGGGCCAGAGTCTAGGAAGCCGGAGTGCAGGTATCAGGCACAAGGGGAGGGCCTGAGATGAGAGTTTGTGGAAAGCCAGTCTCATGGTGAAGAGAGAAGGTGAGCTGAGGAGGCATGCAAGGAGATACCCAAGCCCAGAATGGCCAGGAGGGAGACAGAGGGAGAGAGCCCCGAAGGATGGCATGCATGGGGTAAAGAGAGTGATTGGCAAGCAGTGGTCTAGAGAGCCAAGAGAGACTGTCAGGGCAGCCCTGGGGTGGGAGACCTTCCACCCGGCTCAGATCTCCAGCAAGTTGCTCTGCTCAGGGCTGCCTCCAGGGGCTTTCTCTGGGGTTGCTGGCGAGGCAGAAGGTCGGGGCGTCTGACTGGCCTCCTCTTCCCCCGTGCTGCGGCCCTCCCCCAGCTCCTTGGGGCCACTGGGAGGGGGACCCGGGCCTGGTTCTCCATGGGTGCGCTGGTGTTTGCTCAGGTGGTCGCTTCGGGTAAAGCGCTTGGAGCAGAGCAGGCAGGTGAACTTCTTCTCCCGGGTGTGAGTGCGCACATGACGCTCCAGCTCATCCGAACGAGTGAACCTCTTGCCGCAGAAGAGCCAGTTGCAGACGAAGGGCCTCTCGCCTGTGTGCCAGCACAAGTGGGCCTTCAGGTGCGAAGCCTTGCCATACACCTTGCCGCAGCCAGGGATGTGGCAGCTGTGGATGGGCTTCTTCCGCAGCCCAGCCGCTGCTGCTCCCAGCCGCTCTAGCTCCTGGCAATTAGGGCAGTCGCAGGAGGAGCGCCCTGCCCCACTGCCCCCATATCCACCACTACCCCCAGTGCTTGCACCCCGTGGGGGTTTGGCTCCACCACTCCCTTCTAGCTGCCCACTATTTCCCACTGCCTTGGGTTTATAGACATCTTGGGGCAAGACATGCTGGGGCCCTGGTTGCAAGAGGTGGGGAGCTGGGTAGGGGGCTGGATTAAGGGGAGCAAAGTCAGATGGGTAGGTGGGCAGCTGGGGGTTCAGTGGAGGCTGAGCTGGACCTGTGGGCAGTGTCCCTTGCAGCCCATCACCCTGGCCCTGCCCACCACCTAGCCAGTTGCCTCCAGGGTGCATATCCCACCATGGAGTAGGAGTGTTGCCTGGGCCTGGTGAAATGCCTGCATGGATGCCTGCCTTGTACCAGGAGCCATAGGGGTGTGTCATGTCCAGAGAGGTGTAGACACTGGGCAGACAGTCAGAAGAGCTGTGCCCCTTGGGCACTAGTAGCCCAGGGTCCTGGGTGCCTGTGGGCCCAGGGAATGAGTGGGAAAAGGGAGGGTAATCATTAGCATAGCCTGAGGTGGGTGCTGGAGGACTGCCTGCAGGTGAAAGGAGCCCATTAGTGCTTGTAAAGGGGGCTGGATAAGCATCCCCCATGGTTTTGGAGGCTGAAAGGTCACTGCCCACAGAGTACGGCTTCTTTGTGCCTGCTTTGCCCAGAGTTGTTGAGTCCCGCAGAGGGCTAGAGCCACCAAATTTGCTGCACGCTGCCGTCAGCATGGCCAGGGGACTGGAGCCATAGTGAACTTCCTCCTGTGGAAAGAGGGACGCACTGCTTAGGGAGAGGGGAGGAGAGGTACAAAATGAAGGGCAACACTTTAGGACTGAGACCTAGAGACATCCACAACAGAACAGAGGGGTCAGGGAAGAGTTGAAGAGGGTGGAGAATTACAGGTAAAAGAGGTTAGCCAGTGAGGGCTGGACCTCAGGGCAGACTCATGGAGTCGTGGGAAGAAGAACAGAGGCCCAAGACTGCAGCTCAGTATCCCAACCCAGAAGGCAGGAAGCAGAGCTCATTCTGGAGTTGCTAGGGGTGTACTAGGGGCCTCCAAGGAACAGGAGGTTCTTTTTCTTTTTTTTTGAGATGGAGTCTCGCTGTTGTCGCCCAGGTTGGAGTGCAATGGTGTGACCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCCCCTGCCTCAGCCTCCGGAGGAGTTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAAACAGGGTTTTGCCATGTTGACCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACTGCGCCCGGCCTTTTCTTTTTATTTAAAAAAAAAATTATTTTTTGAGACAAAGTCTTGTTCTGTCACCCAGGCTGGAATGCAGTGGCCCAATCTCGGCTCACTGCAAACTTTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCACATAGCTGGGATTACAGCCGCACGCCACCACATTGAGCTATTTTGTATTTTTAGTACAGACGCAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGATGACCTCAAGTGACCCAAAACTCCTGACCTCAACCTCCCAAAGTGTTGAGATTACAGGTGTGAGCCACCGCACCCAGCCAAAAAAATATTTTTAGAGACAGGGTCTCACTCTGTCTCCCAAGCTGGATGGAGTGCAGTAGCACCATCACAGCTCACTGTAGCCTCAAACTTCTTTCTGGGCTCCAAGCGATCCTCCACCCTCAGCCTCCAGAGTAGTTAGGACTACAGGCACACACCAGGGGCTCTTTTTAAATGGCTGTGAGAAGAACT
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Task1_train_17955
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Consider a variant on Chromosome 12 in gene AMHR2 (anti-Mullerian hormone receptor type 2). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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TTGAATTTTGTACGTCTTTCAGGCAGTATAGTGTAATACAAAGAATAGAGCCGGCCGGGTGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGCGGCCGAGGCGGAGGGATCACGAGGTTAAGAGATCGACCCCTTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCTCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGCCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTTAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATCGACCCCATCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAGTACAAAAATAATAATAAAAATAAGACTAGAACCTGGACTTTGGAGTCAGACCTGCCTAAGTTCAAATTCCAGCTCTGCTATTTCCTAGCTGAATGACTTTGGGCGACTTACGTAAGTTCAGTTTTCTTACCTATAAAATGGAAATAATAAAAATAATAGGCCAGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCACGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTCAGAGGTTGCAGTGAGCCAAGATGGCACCACTGCACTCTAGCCTGGTGACAGAGCGACACTCGGTCTCAAAAAATAAATAAATAAAATAATAATAATAAATATTTCAGGGGAGAATTAGATGAGATGATTGTAAAATGCATAGCCCTAGCTGTGCCCCAGCACATAGTAGGTGCTTGATAAGAAATTTGTTACCTCCTTAATAATGGGTATTTGTTCAGCCTGTGAACCAATGTGTTTTTTTTTTTTAAGTAAAATCCACGGCTAGGCATGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAAATCACCTGAGGTAAGGAGTTCGAGACTAGCCTGGCTGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGCGATCGTGCCACTGCACTCCAGCCTGGGGGAGAAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATCCACATAGCAAAATTTACCATTGTTACTGTTTTCAATGTGTTTTTTAAAAATTCAGGTAAGTTTTGTATACTTTCTGATTCTTAAGTTGGAAAACAAGGTAACCTCTAATATGGGCTGTGAGGCCTTCCTCTGCCCAAGCAGTTGCAGATATGAACCCTGAATATAAAGAGATCTTAGGCTAGAAAGGATCTTGGGCAGAGCTGAATGGCTCTAAGCATTTGACCTCACATTGGTTTCCTCCTGAGAAGAGTCAACAGAGTCCAGCATCTTCTTCCAAGGTCAGGGAAGGGCAAAGATTTGAAATTAGGCATCACTGGGTTCTCAGCTGGGCCTCCAAGTTCCCCTCCTCTCACTATGCAGAGCAAAGAGGAGGTTGCAGAAGAGAAGAGGATATGAGATTGGTTCTCTGCTCCTCCCTTTCTTTCCCTGCTTTCCCCACACCCACCCTCTCCCCCACAGCAGCCTTCTCCCCCACAGAGGCTGGGATAGGATGAGGGGGGCGGAGTTGGGGACTGAGGGATCAGAAGCCCCAGGATGCCCTGTATCTGAAGAAAGATTTGGCCAGGGGCAGCTGTGCTGGCTTATGCTCTTCTCCTTCTGCTGCTGCCATCCTCCAGCAAGATGCTAGGGTCTTTGGGGCTTTGGGCATTACTTCCCACAGCTGTGGAAGGTAAGTGTCTACAGGGAGGGGAAGGGTCTCTCCATCCATCCAGCAAGGGAAAGGGGCGCTTGAAGCAAGAGCCACCCCTTTGGAAGAGTGGTGAGTGGGCTGGGTGAGTAAGGGTGAAGGATAGAGCCATGTGTCCCCATGGCAGGGCTCAGGTTCCAGGCCTCTGCTGACCCTGCTTCCTCCTGTGGCTTTACCATACTGACGCTGGGATGTGGAACATGTTTTGTCTATTCTTTTGGCCAGTTTTTTGCCTCTGCATTCACTCCCACCTTGAATCTTTTCCTTTCCCCACCCTGGGCCTCAGCACCCCCAAACAGGCGAACCTGTGTGTTCTTTGAGGCCCCTGGAGTGCGGGGAAGCACAAAGACACTGGGAGAGCTGCTAGATACAGGCACAGAGCTCCCCAGAGCTATCCGCTGCCTCTACAGCCGCTGCTGCTTTGGGATCTGGAACCTGACCCAAGACCGGGCACAGGTGGAAATGCAAGGTGAATGGCAAAGTATATGGCAGGTGATGGCTAGGGTGGGAGACAGACACATCCTGGGGTGTGGGTGGCAACCAAGGGGGAAGGGGAGAAATAGAACATCTGGTGGGAAAGAAAAGCCCATGAGAGCTGGAAGGGACGCCTCTGATAGAGAAGGGATTTACCCTCTGTTTCCACACCCCATTGTGCTTTCTTCCTTGCCCCCCCTTTCTCTCCTCTTCCCCTAATCCCATCCCATCAGGATGCCGAGACAGTGATGAGCCAGGCTGTGAGTCCCTCCACTGTGACCCAAGTCCCCGAGCCCACCCCAGCCCTGGCTCCACTCTCTTCACCTGCTCCTGTGGCACTGACTTCTGCAATGCCAATTACAGCCATCTGCCTCCTCCAGGGAGCCCTGGGACTCCTGGCTCCCAGGGTCCCCAGGCTGCCCCAGGTAGCCACCCAAGGGTACTGAAGCCTGATGGGGGCTGGGGCCCAGGTTAGGATGAGAGGTGGAACCAGGGCCAGTTCTCACCCTACTCCCGCCCCACGCTTTCCTCCTCCTGGCCTTGGGAAGTTGGTTGCCCTGGTGACTGGGAGATAAGGGGTCTTGTGACCAGGGTGGGGGTGGGTTGAGACGCAAGCTCTCAGGAGGGGAAGAGCAGAGAGCAGGTTTGGGTCAGTGCTCTCCAGCCTGCATTCTTGCCTTGATGTCCAGGTGAGTCCATCTGGATGGCACTGGTGCTGCTGGGGCTGTTCCTCCTCCTCCTGCTGCTGCTGGGCAGCATCATCTTGGGTACTAATCCACCCCATCCCTCCCTTGTGACCCCAAGACATTGCCCCAAAAGCTCTGACCCCTCTCCAGGCACCCCTGACCCCATGGTCTTGGGATCTCTATAGCCTGATTCCCGGACTCCCATGACCTCTCACAAAGCTCCCTTTCCACGAAGTCCCTTTTCCTGTCCCTATGCATTTGCACCCTGACCCTAAGGCTCTTGTCTGTTCCAGCCCTGCTACAGCGAAAGAACTACAGAGTGCGAGGTGAGCCAGTGCCAGAGCCAAGGCCAGACTCAGGCAGGGACTGGAGTGTGGAGCTGCAGGAGCTGCCTGAGCTGTGTTTCTCCCAGGTGCCCCAGGGAGGGAGAGAAGGGCTCCTCTGGGCACTCCTGGAGGTTGTGCTGGGGAGGAATCCTGGCCCTGTTATAGCTCAGAGGCCCACACTCAGCACAGTGTCCCCAGCAGGTAATCCGGGAAGGAGGTCATGCAGTGGTTTGGGCCGGGCAGCTGCAAGGAAAACTGGTTGCCATCAAGGCCTTCCCACCGAGGTCTGTGGCTCAGTTCCAAGCTGAGAGAGCATTGTACGAACTTCCAGGCCTACAGCACGACCACATTGTCCGATTTATCACTGCCAGCCGGGGGGGTCCTGGCCGCCTGCTCTCTGGGCCCCTGCTGGTACTGGAACTGCATCCCAAGGTGAGCACCAAGGAGTGTATATGTGTGTGTGTGTGCCTGTGTGTATGTATAGAGGTGGGGGCTAC
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TTGAATTTTGTACGTCTTTCAGGCAGTATAGTGTAATACAAAGAATAGAGCCGGCCGGGTGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGCGGCCGAGGCGGAGGGATCACGAGGTTAAGAGATCGACCCCTTCGGCCGGGCGCAGTGGCTCACGCCTGTAATCTCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGCCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTTAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCGCTACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATCGACCCCATCCTGGCCAACATGGTGAAACTCCGTCTCTACTAAAAGTACAAAAATAATAATAAAAATAAGACTAGAACCTGGACTTTGGAGTCAGACCTGCCTAAGTTCAAATTCCAGCTCTGCTATTTCCTAGCTGAATGACTTTGGGCGACTTACGTAAGTTCAGTTTTCTTACCTATAAAATGGAAATAATAAAAATAATAGGCCAGGCACAGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCACGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGTCAGAGGTTGCAGTGAGCCAAGATGGCACCACTGCACTCTAGCCTGGTGACAGAGCGACACTCGGTCTCAAAAAATAAATAAATAAAATAATAATAATAAATATTTCAGGGGAGAATTAGATGAGATGATTGTAAAATGCATAGCCCTAGCTGTGCCCCAGCACATAGTAGGTGCTTGATAAGAAATTTGTTACCTCCTTAATAATGGGTATTTGTTCAGCCTGTGAACCAATGTGTTTTTTTTTTTTAAGTAAAATCCACGGCTAGGCATGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAAATCACCTGAGGTAAGGAGTTCGAGACTAGCCTGGCTGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATAGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGCGATCGTGCCACTGCACTCCAGCCTGGGGGAGAAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATCCACATAGCAAAATTTACCATTGTTACTGTTTTCAATGTGTTTTTTAAAAATTCAGGTAAGTTTTGTATACTTTCTGATTCTTAAGTTGGAAAACAAGGTAACCTCTAATATGGGCTGTGAGGCCTTCCTCTGCCCAAGCAGTTGCAGATATGAACCCTGAATATAAAGAGATCTTAGGCTAGAAAGGATCTTGGGCAGAGCTGAATGGCTCTAAGCATTTGACCTCACATTGGTTTCCTCCTGAGAAGAGTCAACAGAGTCCAGCATCTTCTTCCAAGGTCAGGGAAGGGCAAAGATTTGAAATTAGGCATCACTGGGTTCTCAGCTGGGCCTCCAAGTTCCCCTCCTCTCACTATGCAGAGCAAAGAGGAGGTTGCAGAAGAGAAGAGGATATGAGATTGGTTCTCTGCTCCTCCCTTTCTTTCCCTGCTTTCCCCACACCCACCCTCTCCCCCACAGCAGCCTTCTCCCCCACAGAGGCTGGGATAGGATGAGGGGGGCGGAGTTGGGGACTGAGGGATCAGAAGCCCCAGGATGCCCTGTATCTGAAGAAAGATTTGGCCAGGGGCAGCTGTGCTGGCTTATGCTCTTCTCCTTCTGCTGCTGCCATCCTCCAGCAAGATACTAGGGTCTTTGGGGCTTTGGGCATTACTTCCCACAGCTGTGGAAGGTAAGTGTCTACAGGGAGGGGAAGGGTCTCTCCATCCATCCAGCAAGGGAAAGGGGCGCTTGAAGCAAGAGCCACCCCTTTGGAAGAGTGGTGAGTGGGCTGGGTGAGTAAGGGTGAAGGATAGAGCCATGTGTCCCCATGGCAGGGCTCAGGTTCCAGGCCTCTGCTGACCCTGCTTCCTCCTGTGGCTTTACCATACTGACGCTGGGATGTGGAACATGTTTTGTCTATTCTTTTGGCCAGTTTTTTGCCTCTGCATTCACTCCCACCTTGAATCTTTTCCTTTCCCCACCCTGGGCCTCAGCACCCCCAAACAGGCGAACCTGTGTGTTCTTTGAGGCCCCTGGAGTGCGGGGAAGCACAAAGACACTGGGAGAGCTGCTAGATACAGGCACAGAGCTCCCCAGAGCTATCCGCTGCCTCTACAGCCGCTGCTGCTTTGGGATCTGGAACCTGACCCAAGACCGGGCACAGGTGGAAATGCAAGGTGAATGGCAAAGTATATGGCAGGTGATGGCTAGGGTGGGAGACAGACACATCCTGGGGTGTGGGTGGCAACCAAGGGGGAAGGGGAGAAATAGAACATCTGGTGGGAAAGAAAAGCCCATGAGAGCTGGAAGGGACGCCTCTGATAGAGAAGGGATTTACCCTCTGTTTCCACACCCCATTGTGCTTTCTTCCTTGCCCCCCCTTTCTCTCCTCTTCCCCTAATCCCATCCCATCAGGATGCCGAGACAGTGATGAGCCAGGCTGTGAGTCCCTCCACTGTGACCCAAGTCCCCGAGCCCACCCCAGCCCTGGCTCCACTCTCTTCACCTGCTCCTGTGGCACTGACTTCTGCAATGCCAATTACAGCCATCTGCCTCCTCCAGGGAGCCCTGGGACTCCTGGCTCCCAGGGTCCCCAGGCTGCCCCAGGTAGCCACCCAAGGGTACTGAAGCCTGATGGGGGCTGGGGCCCAGGTTAGGATGAGAGGTGGAACCAGGGCCAGTTCTCACCCTACTCCCGCCCCACGCTTTCCTCCTCCTGGCCTTGGGAAGTTGGTTGCCCTGGTGACTGGGAGATAAGGGGTCTTGTGACCAGGGTGGGGGTGGGTTGAGACGCAAGCTCTCAGGAGGGGAAGAGCAGAGAGCAGGTTTGGGTCAGTGCTCTCCAGCCTGCATTCTTGCCTTGATGTCCAGGTGAGTCCATCTGGATGGCACTGGTGCTGCTGGGGCTGTTCCTCCTCCTCCTGCTGCTGCTGGGCAGCATCATCTTGGGTACTAATCCACCCCATCCCTCCCTTGTGACCCCAAGACATTGCCCCAAAAGCTCTGACCCCTCTCCAGGCACCCCTGACCCCATGGTCTTGGGATCTCTATAGCCTGATTCCCGGACTCCCATGACCTCTCACAAAGCTCCCTTTCCACGAAGTCCCTTTTCCTGTCCCTATGCATTTGCACCCTGACCCTAAGGCTCTTGTCTGTTCCAGCCCTGCTACAGCGAAAGAACTACAGAGTGCGAGGTGAGCCAGTGCCAGAGCCAAGGCCAGACTCAGGCAGGGACTGGAGTGTGGAGCTGCAGGAGCTGCCTGAGCTGTGTTTCTCCCAGGTGCCCCAGGGAGGGAGAGAAGGGCTCCTCTGGGCACTCCTGGAGGTTGTGCTGGGGAGGAATCCTGGCCCTGTTATAGCTCAGAGGCCCACACTCAGCACAGTGTCCCCAGCAGGTAATCCGGGAAGGAGGTCATGCAGTGGTTTGGGCCGGGCAGCTGCAAGGAAAACTGGTTGCCATCAAGGCCTTCCCACCGAGGTCTGTGGCTCAGTTCCAAGCTGAGAGAGCATTGTACGAACTTCCAGGCCTACAGCACGACCACATTGTCCGATTTATCACTGCCAGCCGGGGGGGTCCTGGCCGCCTGCTCTCTGGGCCCCTGCTGGTACTGGAACTGCATCCCAAGGTGAGCACCAAGGAGTGTATATGTGTGTGTGTGTGCCTGTGTGTATGTATAGAGGTGGGGGCTAC
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Task1_train_17956
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Consider a variant on Chromosome 12 in gene AMHR2 (anti-Mullerian hormone receptor type 2). Determine its clinical classification and disease relevance.
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Pathogenic; Persistent Mullerian duct syndrome
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TATGCCCCTTGGCACTCGGTTAATTTTCCTATCTTGGGGTTTACTGCATTCTTTATCTCTTACCTTCCCTGAGCCATCTTGGTGCCTGAACACAGTTCGTGGCCACCGAAGGTGCTCGATGACACTTGTTGAATGAGGGGTTCTATTGCTCCCTTCCCTCCAATTCCCACTTGCCCTCCACCTGCTACTCTGTTATCTACTGGCTCTGCCCGTCTATGTGTACACATGCCTGACACCTCAGACAAGGTGACTCATGAAGGATGCCCCTGACTAGCTTGCCCTGCCTCCTCTGTTACTGTCTTTGCCGCATGTCTTCTGAGTCAGTATAAGGTGGTGGTTATTAGTAAGTGATCCTGAGTCAGACTGCTTGGATTCAAGCTCCACTCCTGCCTCACCGACTGACTTCAAGAGAGTTTCCTTAGTTCTGTAAGGAAAAGCTCTTCATCTGTTAAATGGGGGTGTGACAGGAGCACCTACCTTCTAGGGTTTTCACAAGGATTACAGGAGGCCACATCCACTGGGTCTGGACCACAGTAAGTGCCCAGTACCCTTGATCTAGAGTTACTATTTTTCATGTCAATTGATGCACAGTCTTACTCCTCTACCTATTGTCTTGGCCAGCATCCATCAGTGTGTCTGTCTGCTGGGGAGATGCAGGGAGAAGACTGTCAATTGATCTCTGCTCCCTGGGATGGATCAGCCGTCTCCAGCTTTGTGTACCATCCTTTTCTCTCTGCGTTTCCCCAGGGCTCCCTGTGCCACTACTTGACCCAGTACACCAGTGACTGGGGAAGTTCCCTGCGGATGGCACTGTCCCTGGCCCAGGGCCTGGCATTTCTCCATGAGGAGCGCTGGCAGAATGGTGGGTGAGCTGGGCATAGGAAGTCAAGGGAGCCACAGTGCTATGTTTGTGATTCTGCCTTAGTTTGGAGGGGAAAGATTGGGTCAAAAGAGGGAGGAAGAGCCGGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAATATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGACACTGCACTCCAGCCTGGGCGACAGAGCGAGACGCCGACTCAAAAAAAAAAAAAGAGGGAGGAAGAAAATCCATGTTCCTTCAACCTTGGATTCCCCCACAGGCCAATATAAACCAGGTATTGCCCACCGAGATCTGAGCAGCCAGAATGTGCTCATTCGGGAAGATGGATCGTGTGCCATTGGAGACCTGGGCCTTGCCTTGGTGCTCCCTGGCCTCACTCAGCCCCCTGCCTGGACCCCTACTCAACCACAAGGCCCAGCTGCCATCATGGAAGTGAGTTCTCTGGATAACTGGTGAGGCCCAGGATGATGTTGGTGCTGCTGATGGCAATGCAGCCATTGTGTGTCAACAGTTGTAGCAATACCTATAGCATTTGGGACATTGCTGAGTCTGTAGTTGGGGGGATATTGCATGGACCATTGCTGCAATGAGGATTGCCACAGAGATGATTCTTGGCCCTTCGTGCCTTGCTCTCCAGGCTGGCACCCAGAGGTACATGGCACCAGAGCTCTTGGACAAGACTCTGGACCTACAGGATTGGGGCATGGCCCTCCGACGAGCTGATATTTACTCTTTGGCTCTGCTCCTGTGGGAGATACTGAGCCGCTGCCCAGATTTGAGGCCTGGTAAGGATGGGTGGTACAGTCCCCTCTCCTGGGCTCCCCCCCGCCCATTCTAGGTTCACCCCAACCTGACCTGGCCTGAGAAAGCTCTGCTCTTCCCTGTCTTGCCCTTTCTACATGGTAGGCACCCCTAGGACTAACTGATACCCAGCCCCTCTACCTTCCTCCAGACAGCAGTCCACCACCCTTCCAACTGGCCTATGAGGCAGAACTGGGCAATACCCCTACCTCTGATGAGCTATGGGCCTTGGCAGTGCAGGAGAGGAGGCGTCCCTACATCCCATCCACCTGGCGCTGCTTTGCCACAGTAAGAGGCCTAGGCTGTTGGTCTGGGAACCTGGAGAGTGGGGGCTGGGCATGGGCTTCAAGGACGTCTCTGCCAGAGTGTCTGTCTACTCCTATCTCCACTTATCTCCCATCACTCCTTGGTTCATGCTCAGCTGGAACTGGGCAAGCCTCCTCTCCCCGTCAGTTCATCCTCTTCCACCCTAAGTCTCACACAGTCGATTCCATCTACCTGAGACACACACCTTCCTCCTGCTCAACCTTGCCCAGCCTGTCTCTCCTCTCTGCCATCAGTTAGCCCTGTTCCTCAGTCCCCTTCTCCAGGAAGCCCTCCTTGGCTTTGCTCTTGCCCTGAGCTCTGCCCCATCTGCTCTCCTAATACAGTAAAGCCCAAAAATCAATTCAATAAGTCCCCATTCTGTCATACATTGATGATGTTTCTGCTGTGACCCAATAAAAGGCAGTTCTAGGTATAAAAGGTGAAAGCAGTGGCGTCACAGTGAAAGTTCAGGGCTTTGCACAAATACTTTTTTAACAAAATGTCCCTTCTGTACCTGATCTGAAATTTCCACGGCACAAGTCTTAGGTTGGCTGACAGAAACTGGGCATTACTTGCAGAAGACTCTGGCTCTCTGAGAGGAAAGAGAGTAATTTCCCATTAGCATATTAAGCTGTCAACCTACATTAGCTCCTCAGAGGAAACAGTGGGCTATACAGAAGGCCCCCAGAGAGCCTGTTTCATAGGGAGCAAGACTCAGAGGGCTGGAATTCAGCAAGAGGGAGAGGAGGGAGGCTCCAGGAAAGATCAGAAGTGGATGTTGAAAGCAGGAGAGTGATGGACACTGAAGATGGCTTTTAACCCTGGGGCCCACTCAAGATCCTAGGGTCAACCCTTCCTCCCTGTCATTCCCCCCAGGACCCTGATGGGCTGAGGGAGCTCCTAGAAGACTGTTGGGATGCAGACCCAGAAGCACGGCTGACAGCTGAGTGTGTACAGCAGCGCCTGGCTGCCTTGGCCCATCCTCAAGAGAGCCACCCCTTTCCAGAGAGCTGTCCACGTGGCTGCCCACCTCTCTGCCCAGAAGACTGTACTTCAATTCCTGCCCCTACCATCCTCCCCTGTAGGCCTCAGCGGAGTGCCTGCCACTTCAGCGTTCAGCAAGGCCCTTGTTCCAGGAATCCTCAGCCTGCCTGTACCCTTTCTCCTGTGTAAATATGCAGTTTATGTGTCATCAATGTACATGCCAACATAAATATGGCGATTGTATAGCTGTCTTGTCTGCCTCATCACTGCATTTCCCACCTGCCGAATCCTTGGATTCTTCTGCGGGCATCCAGTCCACATCAGTTCTGACCAGTGACTTGGGGTAGGTGTGCACAGGAAAGAGAATAAAGTCAGCTTTCCTGATGCATATCCTTGGTCCTTCCTCTATTCCTGTAATCCAGGGACCCTCTTGTCTCTCTTCTTTTCCACTAACATTTATTTTTATTTATTTATCTGGTTTCTTTTTTTGGAGACAGAGTCTCTGTCCAGTCTGGAGTGCAATGACACGATCACGGCTCACTGCAGCCTTGTCCTCCCTGGGCTCTTGTGATCCTCCTGCCTCAGCCTCCTGAGTAGGAGGGACCACAGGCATGGACCACGATACCCAGCTATTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAGTCTCGGCTCGGTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCCACCTGATTTTTTATTTTTTGTACAGGTGAAGTCTTG
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TATGCCCCTTGGCACTCGGTTAATTTTCCTATCTTGGGGTTTACTGCATTCTTTATCTCTTACCTTCCCTGAGCCATCTTGGTGCCTGAACACAGTTCGTGGCCACCGAAGGTGCTCGATGACACTTGTTGAATGAGGGGTTCTATTGCTCCCTTCCCTCCAATTCCCACTTGCCCTCCACCTGCTACTCTGTTATCTACTGGCTCTGCCCGTCTATGTGTACACATGCCTGACACCTCAGACAAGGTGACTCATGAAGGATGCCCCTGACTAGCTTGCCCTGCCTCCTCTGTTACTGTCTTTGCCGCATGTCTTCTGAGTCAGTATAAGGTGGTGGTTATTAGTAAGTGATCCTGAGTCAGACTGCTTGGATTCAAGCTCCACTCCTGCCTCACCGACTGACTTCAAGAGAGTTTCCTTAGTTCTGTAAGGAAAAGCTCTTCATCTGTTAAATGGGGGTGTGACAGGAGCACCTACCTTCTAGGGTTTTCACAAGGATTACAGGAGGCCACATCCACTGGGTCTGGACCACAGTAAGTGCCCAGTACCCTTGATCTAGAGTTACTATTTTTCATGTCAATTGATGCACAGTCTTACTCCTCTACCTATTGTCTTGGCCAGCATCCATCAGTGTGTCTGTCTGCTGGGGAGATGCAGGGAGAAGACTGTCAATTGATCTCTGCTCCCTGGGATGGATCAGCCGTCTCCAGCTTTGTGTACCATCCTTTTCTCTCTGCGTTTCCCCAGGGCTCCCTGTGCCACTACTTGACCCAGTACACCAGTGACTGGGGAAGTTCCCTGCGGATGGCACTGTCCCTGGCCCAGGGCCTGGCATTTCTCCATGAGGAGCGCTGGCAGAATGGTGGGTGAGCTGGGCATAGGAAGTCAAGGGAGCCACAGTGCTATGTTTGTGATTCTGCCTTAGTTTGGAGGGGAAAGATTGGGTCAAAAGAGGGAGGAAGAGCCGGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGGCCATCCTGGCTAACATGGTGAAACCCTGTCTCTATTAAAAATACAAAATATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGACACTGCACTCCAGCCTGGGCGACAGAGCGAGACGCCGACTCAAAAAAAAAAAAAGAGGGAGGAAGAAAATCCATGTTCCTTCAACCTTGGATTCCCCCACAGGCCAATATAAACCAGGTATTGCCCACCGAGATCTGAGCAGCCAGAATGTGCTCATTCGGGAAGATGGATCGTGTGCCATTGGAGACCTGGGCCTTGCCTTGGTGCTCCCTGGCCTCACTCAGCCCCCTGCCTGGACCCCTACTCAACCACAAGGCCCAGCTGCCATCATGGAAGTGAGTTCTCTGGATAACTGGTGAGGCCCAGGATGATGTTGGTGCTGCTGATGGCAATGCAGCCATTGTGTGTCAACAGTTGTAGCAATACCTATAGCATTTGGGACATTGCTGAGTCTGTAGTTGGGGGGATATTGCATGGACCATTGCTGCAATGAGGATTGCCACAGAGATGATTCTTGGCCCTTCGTGCCTTGCTCTCCAGGCTGGCACCCAGAGGTACATGGCACCAGAGCTCTTGGACAAGACTCTGGACCTACAGGATTGGGGCATGGCCCTCCGACGAGCTGATATTTACTCTTTGGCTCTGCTCCTGTGGGAGATACTGAGCCGCTGCCCAGATTTGAGGCCTGGTAAGGATGGGTGGTACAGTCCCCTCTCCTGGGCTCCCCCCCGCCCATTCTAGGTTCACCCCAACCTGACCTGGCCTGAGAAAGCTCTGCTCTTCCCTGTCTTGCCCTTTCTACATGGTAGGCACCCCTAGGACTAACTGATACCCAGCCCCTCTACCTTCCTCCAGACAGCAGTCCACCACCCTTCCAACTGGCCTATGAGGCAGAACTGGGCAATATCCCTACCTCTGATGAGCTATGGGCCTTGGCAGTGCAGGAGAGGAGGCGTCCCTACATCCCATCCACCTGGCGCTGCTTTGCCACAGTAAGAGGCCTAGGCTGTTGGTCTGGGAACCTGGAGAGTGGGGGCTGGGCATGGGCTTCAAGGACGTCTCTGCCAGAGTGTCTGTCTACTCCTATCTCCACTTATCTCCCATCACTCCTTGGTTCATGCTCAGCTGGAACTGGGCAAGCCTCCTCTCCCCGTCAGTTCATCCTCTTCCACCCTAAGTCTCACACAGTCGATTCCATCTACCTGAGACACACACCTTCCTCCTGCTCAACCTTGCCCAGCCTGTCTCTCCTCTCTGCCATCAGTTAGCCCTGTTCCTCAGTCCCCTTCTCCAGGAAGCCCTCCTTGGCTTTGCTCTTGCCCTGAGCTCTGCCCCATCTGCTCTCCTAATACAGTAAAGCCCAAAAATCAATTCAATAAGTCCCCATTCTGTCATACATTGATGATGTTTCTGCTGTGACCCAATAAAAGGCAGTTCTAGGTATAAAAGGTGAAAGCAGTGGCGTCACAGTGAAAGTTCAGGGCTTTGCACAAATACTTTTTTAACAAAATGTCCCTTCTGTACCTGATCTGAAATTTCCACGGCACAAGTCTTAGGTTGGCTGACAGAAACTGGGCATTACTTGCAGAAGACTCTGGCTCTCTGAGAGGAAAGAGAGTAATTTCCCATTAGCATATTAAGCTGTCAACCTACATTAGCTCCTCAGAGGAAACAGTGGGCTATACAGAAGGCCCCCAGAGAGCCTGTTTCATAGGGAGCAAGACTCAGAGGGCTGGAATTCAGCAAGAGGGAGAGGAGGGAGGCTCCAGGAAAGATCAGAAGTGGATGTTGAAAGCAGGAGAGTGATGGACACTGAAGATGGCTTTTAACCCTGGGGCCCACTCAAGATCCTAGGGTCAACCCTTCCTCCCTGTCATTCCCCCCAGGACCCTGATGGGCTGAGGGAGCTCCTAGAAGACTGTTGGGATGCAGACCCAGAAGCACGGCTGACAGCTGAGTGTGTACAGCAGCGCCTGGCTGCCTTGGCCCATCCTCAAGAGAGCCACCCCTTTCCAGAGAGCTGTCCACGTGGCTGCCCACCTCTCTGCCCAGAAGACTGTACTTCAATTCCTGCCCCTACCATCCTCCCCTGTAGGCCTCAGCGGAGTGCCTGCCACTTCAGCGTTCAGCAAGGCCCTTGTTCCAGGAATCCTCAGCCTGCCTGTACCCTTTCTCCTGTGTAAATATGCAGTTTATGTGTCATCAATGTACATGCCAACATAAATATGGCGATTGTATAGCTGTCTTGTCTGCCTCATCACTGCATTTCCCACCTGCCGAATCCTTGGATTCTTCTGCGGGCATCCAGTCCACATCAGTTCTGACCAGTGACTTGGGGTAGGTGTGCACAGGAAAGAGAATAAAGTCAGCTTTCCTGATGCATATCCTTGGTCCTTCCTCTATTCCTGTAATCCAGGGACCCTCTTGTCTCTCTTCTTTTCCACTAACATTTATTTTTATTTATTTATCTGGTTTCTTTTTTTGGAGACAGAGTCTCTGTCCAGTCTGGAGTGCAATGACACGATCACGGCTCACTGCAGCCTTGTCCTCCCTGGGCTCTTGTGATCCTCCTGCCTCAGCCTCCTGAGTAGGAGGGACCACAGGCATGGACCACGATACCCAGCTATTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAGTCTCGGCTCGGTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCACCACCACACCCGGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCCTGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCCACCTGATTTTTTATTTTTTGTACAGGTGAAGTCTTG
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Task1_train_17957
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Mutation context: Chromosome 12, Gene HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Chronic progressive multiple sclerosis
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GCTTTGGGTTTGTCACATATGCCACTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAAAGAAGACACTGAAGAACATCACCTAAGAGATTATTTTGAACAGTATGGAAAAATTGAAGTGATTGAAATCATGACTGACCGAGGCAGTGGCAAGAAAAGGGGCTTTGCCTTTGTAACCTTTGACGACCATGACTCCGTGGATAAGATTGTCAGTAAGTATCAGATAGTGGCATTTAGTAAGGGTTCCACAATCTGTATGGCATTCTAAACCCTGATACCATGTTGTATCTATGTTTTTTTTTTAGTTCAGAAATACCATACTGTGAATGGCCACAACTGTGAAGTTAGAAAAGCCCTGTCAAAGCAAGAGATGGCTAGTGCTTCATCCAGCCAAAGAGGTATGCTTGTTGCTTAATTAAACCTTAAAGGTAACTTTGAGTTACTCCAGTATGAATGATTTAATGCTTAAACTTCATGTCTTAAGGTCGAAGTGGTTCTGGAAACTTTGGTGGTGGTCGTGGAGGTGGTTTCGGTGGGAATGACAACTTCGGTCGTGGAGGAAACTTCAGTGGTCGTGGTATGTATGGTTTATCTACATGTAGTTCTGACTTCTCACCATCTTTGCTATGAAGATTTTACAGTACGGGAACTGCATTCAGAATGTCACTTTAAGTCCAAGTCATACTTAAAACTTGAAACTTTTTCTTACAGGTGGCTTTGGTGGCAGCCGTGGTGGTGGTGGATATGGTGGCAGTGGGGATGGCTATAATGGATTTGGTAATGATGGTAAGTTTTTTAGGAATAAGTAGAGAAAAATTCCTGGCAACCTGGATCTTTAGAATAGGTTAGTAGAGACTAAAATTCTGGTGCATGTCAAACTCAACTTTGCCCATAACACGCATGCTGTGAGCAGGCCTTCAGCCGTTACACTTGCACAAGTTTTCATTGTCAAATACTTTTGTCTTATTGAGAAGAATTGTATTCTTGTAGGTGGTTATGGAGGAGGCGGCCCTGGTTACTCTGGAGGAAGCAGAGGCTATGGAAGTGGTGGACAGGGTTATGGAAACCAGGGCAGTGGCTATGGCGGGAGTGGCAGCTATGACAGCTATAACAACGGAGGCGGAGGCGGCTTTGGCGGTGGTAGTGGTAGGTATCCAGTGATCCAAGTACTTGGTGTGACAGCTAGATTAGCCTTTTAGAGCTTGGGTTCTGGTGCTGTTGAAGCATTGTGTGGTACACTGCATGGTATATTAAAAACAAATGGGCTTGCTATGCTACCTCCTCCTAGCTTTAAGCTGGGGCCGCCTCACTCCCAAATAGTAGAGATAAGTGGATAGTGTTGTCTTTGAGTTAGATTAGTATCATAGAAGGATTTAGTATTTTAACTCCTTTGGGACCTTAGGCGCTTAGTTGATGTATCCAAGATACTTCTGCTTGCTGTGGCCCTGGATCCGTGAAGGCCTTCAAGGCTGAAGGGTATGCTTGTGCCACTCTGAAAATCTCTTTATTTTATGTCATGGTGAGTTAGGCCAGTTTTCTTTGTATTACTGGATTATTCAACTGAATGCCTTTCCCAGAGAATGAAATGCAAAGATTGGAGTCACCATAGTTTGGGAGAAAGGAAGGCTGATAACTCAACCTTATTTTATTCTGACTGCTAAACAGAATTGGAAACTAACATCATCCTCAGGTAACAGATAAAGGCCCTCTTTCCCATTCATAGGAAGCAATTTTGGAGGTGGTGGAAGCTACAATGATTTTGGGAATTACAACAATCAGTCTTCAAATTTTGGACCCATGAAGGGAGGAAATTTTGGAGGCAGAAGCTCTGGCCCCTATGGCGGTGGAGGCCAATACTTTGCAAAACCACGAAACCAAGGTATGGTATCTATGTAATTTTGGATAATGTCAAAAGAGTGTCTGTAGCTACTGCTGGGAAGAAAGCCCTTTAACTGCTATGTCTGGGCAGCAAAACGTTTATAGTTTAGAACCTTCAGAAAGTGATAATTTGATCACAAATTAGAAAAATCATGGGACCTCTTTACCACCTCCCTTGTAGTAGGGCCATTTTTAAATGGCCAGACACTTGAATTTAACTTTTATTATCCCAAATATGAAAACATTACTGTTGGCACTTTGAAACTTTAAAAGAAAAATTGTACTTTTCAGGTGGCTATGGCGGTTCCAGCAGCAGCAGTAGCTATGGCAGTGGCAGAAGATTTTAATTAGGTAAGTAAGCACCTTTTTGTGTGTTGACATAATTTTTTAAATTGCTGATGAACCCAATAACCCTAATGTAGCTGAGCAGTGCAACATAGTTAACATTATAATTGCAGTAATTGTGGATATAAAGTTAATATTCAGATCAGCAAAATTTGTGGGAAACAAACTTGATATTGGATTGTAGCCTTGAGTCTTAATATGTTTAGATTAACAACTTTATTCCATATTGTTCAACAGGAAACAAAGCTTAGCAGGAGAGGAGAGCCAGAGAAGTGACAGGGAAGCTACAGGTTACAACAGATTTGTGAACTCAGCCAAGCACAGTGGTGGCAGGGCCTAGCTGCTACAAAGAAGACATGTTTTAGACAAATACTCATGTGTATGGGCAAAAAACTCGAGGACTGTATTTGTGACTAATTGTATAACAGGTTATTTTAGTTTCTGTTCTGTGGAAAGTGTAAAGCATTCCAACAAAGGGTTTTAATGTAGATTTTTTTTTTTGCACCCCATGCTGTTGATTGCTAAATGTAACAGTCTGATCGTGACGCTGAATAAATGTCTTTTTTTTAATGTGCTGTGTAAAGTTAGTCTACTCTTAAGCCATCTTGGTAAATTTCCCCAACAGTGTGAAGTTAGAATTCCTTCAGGGTGATGCCAGGTTCTATTTGGAATTTATATACAACCTGCTTGGGTGGAGAAGCCATTGTCTTCGGAAACCTTGGTGTAGTTGAACTGATAGTTACTGTTGTGACCTGAAGTTCACCATTAAAAGGGATTACCCAAGCAAAATCATGGAATGGTTATAAAAGTGATTGTTGGCACATCCTATGCAATATATCTAAATTGAATAATGGTACCAGATAAAATTATAGATGGGAATGAAGCTTGTGTATCCATTATCATGTGTAATCAATAAACGATTTAATTCTCTTGAATGAAATGACAACTGTATGGATTTGGGACTGGCAGAGATTTGGACTTTCCCTACCCACTCCCCCTGATAATAATGTTGAATGCTTCTATCACAATTCAAGTTCAAAGCTCTGCCAGGGAATAGAAACTAGCTGCTGGCTAATGCCGCTCCATAAATCCGCAGATTTGAAGTGTCTGGGAGGCCTTTTAAAAATAACTAATATCAGAAAGCATTTTAATGAACGTAAAGATAGGCTTACATTAAAGGAAAACTGCAGTTTGACTGGGTTCTGGTTGGGTGGGCCTTCAGAGGTTCTATCAGTTAACTATACTAATTAATTTGGAGATTCAAACCATACCAATAGAAACTAAATTTTTCTACATAATTTCATGTTAACTGCAGTTTCCCTTTATGGCACAAGGGGTCACACAACCTACCTAAAATGTTAATTGTATAGAAAATGATTTCTAAACCTTTAACAGTTAATATCCAATAATGTGTTATTTGTACATAGATTCTTTTGAGCCTTACCTTTGGTGCTCTCTCAATTTCAGTGCTATTGTACCTAGTAGCATAGAGATTTGTCTATCAATAGGACTGTATATTCCATCCCATGGGTGTGTTGGAAGTTTGGGGAGGAGGAGGGTGGTGGGAGGTGGGTGGGAGGTGGTGGTGGGTGGGAAAGCATGGGTGATAGTTC
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GCTTTGGGTTTGTCACATATGCCACTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAAAGAAGACACTGAAGAACATCACCTAAGAGATTATTTTGAACAGTATGGAAAAATTGAAGTGATTGAAATCATGACTGACCGAGGCAGTGGCAAGAAAAGGGGCTTTGCCTTTGTAACCTTTGACGACCATGACTCCGTGGATAAGATTGTCAGTAAGTATCAGATAGTGGCATTTAGTAAGGGTTCCACAATCTGTATGGCATTCTAAACCCTGATACCATGTTGTATCTATGTTTTTTTTTTAGTTCAGAAATACCATACTGTGAATGGCCACAACTGTGAAGTTAGAAAAGCCCTGTCAAAGCAAGAGATGGCTAGTGCTTCATCCAGCCAAAGAGGTATGCTTGTTGCTTAATTAAACCTTAAAGGTAACTTTGAGTTACTCCAGTATGAATGATTTAATGCTTAAACTTCATGTCTTAAGGTCGAAGTGGTTCTGGAAACTTTGGTGGTGGTCGTGGAGGTGGTTTCGGTGGGAATGACAACTTCGGTCGTGGAGGAAACTTCAGTGGTCGTGGTATGTATGGTTTATCTACATGTAGTTCTGACTTCTCACCATCTTTGCTATGAAGATTTTACAGTACGGGAACTGCATTCAGAATGTCACTTTAAGTCCAAGTCATACTTAAAACTTGAAACTTTTTCTTACAGGTGGCTTTGGTGGCAGCCGTGGTGGTGGTGGATATGGTGGCAGTGGGGATGGCTATAATGGATTTGGTAATGATGGTAAGTTTTTTAGGAATAAGTAGAGAAAAATTCCTGGCAACCTGGATCTTTAGAATAGGTTAGTAGAGACTAAAATTCTGGTGCATGTCAAACTCAACTTTGCCCATAACACGCATGCTGTGAGCAGGCCTTCAGCCGTTACACTTGCACAAGTTTTCATTGTCAAATACTTTTGTCTTATTGAGAAGAATTGTATTCTTGTAGGTGGTTATGGAGGAGGCGGCCCTGGTTACTCTGGAGGAAGCAGAGGCTATGGAAGTGGTGGACAGGGTTATGGAAACCAGGGCAGTGGCTATGGCGGGAGTGGCAGCTATGACAGCTATAACAACGGAGGCGGAGGCGGCTTTGGCGGTGGTAGTGGTAGGTATCCAGTGATCCAAGTACTTGGTGTGACAGCTAGATTAGCCTTTTAGAGCTTGGGTTCTGGTGCTGTTGAAGCATTGTGTGGTACACTGCATGGTATATTAAAAACAAATGGGCTTGCTATGCTACCTCCTCCTAGCTTTAAGCTGGGGCCGCCTCACTCCCAAATAGTAGAGATAAGTGGATAGTGTTGTCTTTGAGTTAGATTAGTATCATAGAAGGATTTAGTATTTTAACTCCTTTGGGACCTTAGGCGCTTAGTTGATGTATCCAAGATACTTCTGCTTGCTGTGGCCCTGGATCCGTGAAGGCCTTCAAGGCTGAAGGGTATGCTTGTGCCACTCTGAAAATCTCTTTATTTTATGTCATGGTGAGTTAGGCCAGTTTTCTTTGTATTACTGGATTATTCAACTGAATGCCTTTCCCAGAGAATGAAATGCAAAGATTGGAGTCACCATAGTTTGGGAGAAAGGAAGGCTGATAACTCAACCTTATTTTATTCTGACTGCTAAACAGAATTGGAAACTAACATCATCCTCAGGTAACAGATAAAGGCCCTCTTTCCCATTCATAGGAAGCAATTTTGGAGGTGGTGGAAGCTACAATGATTTTGGGAATTACAACAATCAGTCTTCAAATCTTGGACCCATGAAGGGAGGAAATTTTGGAGGCAGAAGCTCTGGCCCCTATGGCGGTGGAGGCCAATACTTTGCAAAACCACGAAACCAAGGTATGGTATCTATGTAATTTTGGATAATGTCAAAAGAGTGTCTGTAGCTACTGCTGGGAAGAAAGCCCTTTAACTGCTATGTCTGGGCAGCAAAACGTTTATAGTTTAGAACCTTCAGAAAGTGATAATTTGATCACAAATTAGAAAAATCATGGGACCTCTTTACCACCTCCCTTGTAGTAGGGCCATTTTTAAATGGCCAGACACTTGAATTTAACTTTTATTATCCCAAATATGAAAACATTACTGTTGGCACTTTGAAACTTTAAAAGAAAAATTGTACTTTTCAGGTGGCTATGGCGGTTCCAGCAGCAGCAGTAGCTATGGCAGTGGCAGAAGATTTTAATTAGGTAAGTAAGCACCTTTTTGTGTGTTGACATAATTTTTTAAATTGCTGATGAACCCAATAACCCTAATGTAGCTGAGCAGTGCAACATAGTTAACATTATAATTGCAGTAATTGTGGATATAAAGTTAATATTCAGATCAGCAAAATTTGTGGGAAACAAACTTGATATTGGATTGTAGCCTTGAGTCTTAATATGTTTAGATTAACAACTTTATTCCATATTGTTCAACAGGAAACAAAGCTTAGCAGGAGAGGAGAGCCAGAGAAGTGACAGGGAAGCTACAGGTTACAACAGATTTGTGAACTCAGCCAAGCACAGTGGTGGCAGGGCCTAGCTGCTACAAAGAAGACATGTTTTAGACAAATACTCATGTGTATGGGCAAAAAACTCGAGGACTGTATTTGTGACTAATTGTATAACAGGTTATTTTAGTTTCTGTTCTGTGGAAAGTGTAAAGCATTCCAACAAAGGGTTTTAATGTAGATTTTTTTTTTTGCACCCCATGCTGTTGATTGCTAAATGTAACAGTCTGATCGTGACGCTGAATAAATGTCTTTTTTTTAATGTGCTGTGTAAAGTTAGTCTACTCTTAAGCCATCTTGGTAAATTTCCCCAACAGTGTGAAGTTAGAATTCCTTCAGGGTGATGCCAGGTTCTATTTGGAATTTATATACAACCTGCTTGGGTGGAGAAGCCATTGTCTTCGGAAACCTTGGTGTAGTTGAACTGATAGTTACTGTTGTGACCTGAAGTTCACCATTAAAAGGGATTACCCAAGCAAAATCATGGAATGGTTATAAAAGTGATTGTTGGCACATCCTATGCAATATATCTAAATTGAATAATGGTACCAGATAAAATTATAGATGGGAATGAAGCTTGTGTATCCATTATCATGTGTAATCAATAAACGATTTAATTCTCTTGAATGAAATGACAACTGTATGGATTTGGGACTGGCAGAGATTTGGACTTTCCCTACCCACTCCCCCTGATAATAATGTTGAATGCTTCTATCACAATTCAAGTTCAAAGCTCTGCCAGGGAATAGAAACTAGCTGCTGGCTAATGCCGCTCCATAAATCCGCAGATTTGAAGTGTCTGGGAGGCCTTTTAAAAATAACTAATATCAGAAAGCATTTTAATGAACGTAAAGATAGGCTTACATTAAAGGAAAACTGCAGTTTGACTGGGTTCTGGTTGGGTGGGCCTTCAGAGGTTCTATCAGTTAACTATACTAATTAATTTGGAGATTCAAACCATACCAATAGAAACTAAATTTTTCTACATAATTTCATGTTAACTGCAGTTTCCCTTTATGGCACAAGGGGTCACACAACCTACCTAAAATGTTAATTGTATAGAAAATGATTTCTAAACCTTTAACAGTTAATATCCAATAATGTGTTATTTGTACATAGATTCTTTTGAGCCTTACCTTTGGTGCTCTCTCAATTTCAGTGCTATTGTACCTAGTAGCATAGAGATTTGTCTATCAATAGGACTGTATATTCCATCCCATGGGTGTGTTGGAAGTTTGGGGAGGAGGAGGGTGGTGGGAGGTGGGTGGGAGGTGGTGGTGGGTGGGAAAGCATGGGTGATAGTTC
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Task1_train_17958
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This mutation occurs in HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Chronic progressive multiple sclerosis
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GCTTTGGGTTTGTCACATATGCCACTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAAAGAAGACACTGAAGAACATCACCTAAGAGATTATTTTGAACAGTATGGAAAAATTGAAGTGATTGAAATCATGACTGACCGAGGCAGTGGCAAGAAAAGGGGCTTTGCCTTTGTAACCTTTGACGACCATGACTCCGTGGATAAGATTGTCAGTAAGTATCAGATAGTGGCATTTAGTAAGGGTTCCACAATCTGTATGGCATTCTAAACCCTGATACCATGTTGTATCTATGTTTTTTTTTTAGTTCAGAAATACCATACTGTGAATGGCCACAACTGTGAAGTTAGAAAAGCCCTGTCAAAGCAAGAGATGGCTAGTGCTTCATCCAGCCAAAGAGGTATGCTTGTTGCTTAATTAAACCTTAAAGGTAACTTTGAGTTACTCCAGTATGAATGATTTAATGCTTAAACTTCATGTCTTAAGGTCGAAGTGGTTCTGGAAACTTTGGTGGTGGTCGTGGAGGTGGTTTCGGTGGGAATGACAACTTCGGTCGTGGAGGAAACTTCAGTGGTCGTGGTATGTATGGTTTATCTACATGTAGTTCTGACTTCTCACCATCTTTGCTATGAAGATTTTACAGTACGGGAACTGCATTCAGAATGTCACTTTAAGTCCAAGTCATACTTAAAACTTGAAACTTTTTCTTACAGGTGGCTTTGGTGGCAGCCGTGGTGGTGGTGGATATGGTGGCAGTGGGGATGGCTATAATGGATTTGGTAATGATGGTAAGTTTTTTAGGAATAAGTAGAGAAAAATTCCTGGCAACCTGGATCTTTAGAATAGGTTAGTAGAGACTAAAATTCTGGTGCATGTCAAACTCAACTTTGCCCATAACACGCATGCTGTGAGCAGGCCTTCAGCCGTTACACTTGCACAAGTTTTCATTGTCAAATACTTTTGTCTTATTGAGAAGAATTGTATTCTTGTAGGTGGTTATGGAGGAGGCGGCCCTGGTTACTCTGGAGGAAGCAGAGGCTATGGAAGTGGTGGACAGGGTTATGGAAACCAGGGCAGTGGCTATGGCGGGAGTGGCAGCTATGACAGCTATAACAACGGAGGCGGAGGCGGCTTTGGCGGTGGTAGTGGTAGGTATCCAGTGATCCAAGTACTTGGTGTGACAGCTAGATTAGCCTTTTAGAGCTTGGGTTCTGGTGCTGTTGAAGCATTGTGTGGTACACTGCATGGTATATTAAAAACAAATGGGCTTGCTATGCTACCTCCTCCTAGCTTTAAGCTGGGGCCGCCTCACTCCCAAATAGTAGAGATAAGTGGATAGTGTTGTCTTTGAGTTAGATTAGTATCATAGAAGGATTTAGTATTTTAACTCCTTTGGGACCTTAGGCGCTTAGTTGATGTATCCAAGATACTTCTGCTTGCTGTGGCCCTGGATCCGTGAAGGCCTTCAAGGCTGAAGGGTATGCTTGTGCCACTCTGAAAATCTCTTTATTTTATGTCATGGTGAGTTAGGCCAGTTTTCTTTGTATTACTGGATTATTCAACTGAATGCCTTTCCCAGAGAATGAAATGCAAAGATTGGAGTCACCATAGTTTGGGAGAAAGGAAGGCTGATAACTCAACCTTATTTTATTCTGACTGCTAAACAGAATTGGAAACTAACATCATCCTCAGGTAACAGATAAAGGCCCTCTTTCCCATTCATAGGAAGCAATTTTGGAGGTGGTGGAAGCTACAATGATTTTGGGAATTACAACAATCAGTCTTCAAATTTTGGACCCATGAAGGGAGGAAATTTTGGAGGCAGAAGCTCTGGCCCCTATGGCGGTGGAGGCCAATACTTTGCAAAACCACGAAACCAAGGTATGGTATCTATGTAATTTTGGATAATGTCAAAAGAGTGTCTGTAGCTACTGCTGGGAAGAAAGCCCTTTAACTGCTATGTCTGGGCAGCAAAACGTTTATAGTTTAGAACCTTCAGAAAGTGATAATTTGATCACAAATTAGAAAAATCATGGGACCTCTTTACCACCTCCCTTGTAGTAGGGCCATTTTTAAATGGCCAGACACTTGAATTTAACTTTTATTATCCCAAATATGAAAACATTACTGTTGGCACTTTGAAACTTTAAAAGAAAAATTGTACTTTTCAGGTGGCTATGGCGGTTCCAGCAGCAGCAGTAGCTATGGCAGTGGCAGAAGATTTTAATTAGGTAAGTAAGCACCTTTTTGTGTGTTGACATAATTTTTTAAATTGCTGATGAACCCAATAACCCTAATGTAGCTGAGCAGTGCAACATAGTTAACATTATAATTGCAGTAATTGTGGATATAAAGTTAATATTCAGATCAGCAAAATTTGTGGGAAACAAACTTGATATTGGATTGTAGCCTTGAGTCTTAATATGTTTAGATTAACAACTTTATTCCATATTGTTCAACAGGAAACAAAGCTTAGCAGGAGAGGAGAGCCAGAGAAGTGACAGGGAAGCTACAGGTTACAACAGATTTGTGAACTCAGCCAAGCACAGTGGTGGCAGGGCCTAGCTGCTACAAAGAAGACATGTTTTAGACAAATACTCATGTGTATGGGCAAAAAACTCGAGGACTGTATTTGTGACTAATTGTATAACAGGTTATTTTAGTTTCTGTTCTGTGGAAAGTGTAAAGCATTCCAACAAAGGGTTTTAATGTAGATTTTTTTTTTTGCACCCCATGCTGTTGATTGCTAAATGTAACAGTCTGATCGTGACGCTGAATAAATGTCTTTTTTTTAATGTGCTGTGTAAAGTTAGTCTACTCTTAAGCCATCTTGGTAAATTTCCCCAACAGTGTGAAGTTAGAATTCCTTCAGGGTGATGCCAGGTTCTATTTGGAATTTATATACAACCTGCTTGGGTGGAGAAGCCATTGTCTTCGGAAACCTTGGTGTAGTTGAACTGATAGTTACTGTTGTGACCTGAAGTTCACCATTAAAAGGGATTACCCAAGCAAAATCATGGAATGGTTATAAAAGTGATTGTTGGCACATCCTATGCAATATATCTAAATTGAATAATGGTACCAGATAAAATTATAGATGGGAATGAAGCTTGTGTATCCATTATCATGTGTAATCAATAAACGATTTAATTCTCTTGAATGAAATGACAACTGTATGGATTTGGGACTGGCAGAGATTTGGACTTTCCCTACCCACTCCCCCTGATAATAATGTTGAATGCTTCTATCACAATTCAAGTTCAAAGCTCTGCCAGGGAATAGAAACTAGCTGCTGGCTAATGCCGCTCCATAAATCCGCAGATTTGAAGTGTCTGGGAGGCCTTTTAAAAATAACTAATATCAGAAAGCATTTTAATGAACGTAAAGATAGGCTTACATTAAAGGAAAACTGCAGTTTGACTGGGTTCTGGTTGGGTGGGCCTTCAGAGGTTCTATCAGTTAACTATACTAATTAATTTGGAGATTCAAACCATACCAATAGAAACTAAATTTTTCTACATAATTTCATGTTAACTGCAGTTTCCCTTTATGGCACAAGGGGTCACACAACCTACCTAAAATGTTAATTGTATAGAAAATGATTTCTAAACCTTTAACAGTTAATATCCAATAATGTGTTATTTGTACATAGATTCTTTTGAGCCTTACCTTTGGTGCTCTCTCAATTTCAGTGCTATTGTACCTAGTAGCATAGAGATTTGTCTATCAATAGGACTGTATATTCCATCCCATGGGTGTGTTGGAAGTTTGGGGAGGAGGAGGGTGGTGGGAGGTGGGTGGGAGGTGGTGGTGGGTGGGAAAGCATGGGTGATAGTTC
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GCTTTGGGTTTGTCACATATGCCACTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAAAGAAGACACTGAAGAACATCACCTAAGAGATTATTTTGAACAGTATGGAAAAATTGAAGTGATTGAAATCATGACTGACCGAGGCAGTGGCAAGAAAAGGGGCTTTGCCTTTGTAACCTTTGACGACCATGACTCCGTGGATAAGATTGTCAGTAAGTATCAGATAGTGGCATTTAGTAAGGGTTCCACAATCTGTATGGCATTCTAAACCCTGATACCATGTTGTATCTATGTTTTTTTTTTAGTTCAGAAATACCATACTGTGAATGGCCACAACTGTGAAGTTAGAAAAGCCCTGTCAAAGCAAGAGATGGCTAGTGCTTCATCCAGCCAAAGAGGTATGCTTGTTGCTTAATTAAACCTTAAAGGTAACTTTGAGTTACTCCAGTATGAATGATTTAATGCTTAAACTTCATGTCTTAAGGTCGAAGTGGTTCTGGAAACTTTGGTGGTGGTCGTGGAGGTGGTTTCGGTGGGAATGACAACTTCGGTCGTGGAGGAAACTTCAGTGGTCGTGGTATGTATGGTTTATCTACATGTAGTTCTGACTTCTCACCATCTTTGCTATGAAGATTTTACAGTACGGGAACTGCATTCAGAATGTCACTTTAAGTCCAAGTCATACTTAAAACTTGAAACTTTTTCTTACAGGTGGCTTTGGTGGCAGCCGTGGTGGTGGTGGATATGGTGGCAGTGGGGATGGCTATAATGGATTTGGTAATGATGGTAAGTTTTTTAGGAATAAGTAGAGAAAAATTCCTGGCAACCTGGATCTTTAGAATAGGTTAGTAGAGACTAAAATTCTGGTGCATGTCAAACTCAACTTTGCCCATAACACGCATGCTGTGAGCAGGCCTTCAGCCGTTACACTTGCACAAGTTTTCATTGTCAAATACTTTTGTCTTATTGAGAAGAATTGTATTCTTGTAGGTGGTTATGGAGGAGGCGGCCCTGGTTACTCTGGAGGAAGCAGAGGCTATGGAAGTGGTGGACAGGGTTATGGAAACCAGGGCAGTGGCTATGGCGGGAGTGGCAGCTATGACAGCTATAACAACGGAGGCGGAGGCGGCTTTGGCGGTGGTAGTGGTAGGTATCCAGTGATCCAAGTACTTGGTGTGACAGCTAGATTAGCCTTTTAGAGCTTGGGTTCTGGTGCTGTTGAAGCATTGTGTGGTACACTGCATGGTATATTAAAAACAAATGGGCTTGCTATGCTACCTCCTCCTAGCTTTAAGCTGGGGCCGCCTCACTCCCAAATAGTAGAGATAAGTGGATAGTGTTGTCTTTGAGTTAGATTAGTATCATAGAAGGATTTAGTATTTTAACTCCTTTGGGACCTTAGGCGCTTAGTTGATGTATCCAAGATACTTCTGCTTGCTGTGGCCCTGGATCCGTGAAGGCCTTCAAGGCTGAAGGGTATGCTTGTGCCACTCTGAAAATCTCTTTATTTTATGTCATGGTGAGTTAGGCCAGTTTTCTTTGTATTACTGGATTATTCAACTGAATGCCTTTCCCAGAGAATGAAATGCAAAGATTGGAGTCACCATAGTTTGGGAGAAAGGAAGGCTGATAACTCAACCTTATTTTATTCTGACTGCTAAACAGAATTGGAAACTAACATCATCCTCAGGTAACAGATAAAGGCCCTCTTTCCCATTCATAGGAAGCAATTTTGGAGGTGGTGGAAGCTACAATGATTTTGGGAATTACAACAATCAGTCTTCAAATGTTGGACCCATGAAGGGAGGAAATTTTGGAGGCAGAAGCTCTGGCCCCTATGGCGGTGGAGGCCAATACTTTGCAAAACCACGAAACCAAGGTATGGTATCTATGTAATTTTGGATAATGTCAAAAGAGTGTCTGTAGCTACTGCTGGGAAGAAAGCCCTTTAACTGCTATGTCTGGGCAGCAAAACGTTTATAGTTTAGAACCTTCAGAAAGTGATAATTTGATCACAAATTAGAAAAATCATGGGACCTCTTTACCACCTCCCTTGTAGTAGGGCCATTTTTAAATGGCCAGACACTTGAATTTAACTTTTATTATCCCAAATATGAAAACATTACTGTTGGCACTTTGAAACTTTAAAAGAAAAATTGTACTTTTCAGGTGGCTATGGCGGTTCCAGCAGCAGCAGTAGCTATGGCAGTGGCAGAAGATTTTAATTAGGTAAGTAAGCACCTTTTTGTGTGTTGACATAATTTTTTAAATTGCTGATGAACCCAATAACCCTAATGTAGCTGAGCAGTGCAACATAGTTAACATTATAATTGCAGTAATTGTGGATATAAAGTTAATATTCAGATCAGCAAAATTTGTGGGAAACAAACTTGATATTGGATTGTAGCCTTGAGTCTTAATATGTTTAGATTAACAACTTTATTCCATATTGTTCAACAGGAAACAAAGCTTAGCAGGAGAGGAGAGCCAGAGAAGTGACAGGGAAGCTACAGGTTACAACAGATTTGTGAACTCAGCCAAGCACAGTGGTGGCAGGGCCTAGCTGCTACAAAGAAGACATGTTTTAGACAAATACTCATGTGTATGGGCAAAAAACTCGAGGACTGTATTTGTGACTAATTGTATAACAGGTTATTTTAGTTTCTGTTCTGTGGAAAGTGTAAAGCATTCCAACAAAGGGTTTTAATGTAGATTTTTTTTTTTGCACCCCATGCTGTTGATTGCTAAATGTAACAGTCTGATCGTGACGCTGAATAAATGTCTTTTTTTTAATGTGCTGTGTAAAGTTAGTCTACTCTTAAGCCATCTTGGTAAATTTCCCCAACAGTGTGAAGTTAGAATTCCTTCAGGGTGATGCCAGGTTCTATTTGGAATTTATATACAACCTGCTTGGGTGGAGAAGCCATTGTCTTCGGAAACCTTGGTGTAGTTGAACTGATAGTTACTGTTGTGACCTGAAGTTCACCATTAAAAGGGATTACCCAAGCAAAATCATGGAATGGTTATAAAAGTGATTGTTGGCACATCCTATGCAATATATCTAAATTGAATAATGGTACCAGATAAAATTATAGATGGGAATGAAGCTTGTGTATCCATTATCATGTGTAATCAATAAACGATTTAATTCTCTTGAATGAAATGACAACTGTATGGATTTGGGACTGGCAGAGATTTGGACTTTCCCTACCCACTCCCCCTGATAATAATGTTGAATGCTTCTATCACAATTCAAGTTCAAAGCTCTGCCAGGGAATAGAAACTAGCTGCTGGCTAATGCCGCTCCATAAATCCGCAGATTTGAAGTGTCTGGGAGGCCTTTTAAAAATAACTAATATCAGAAAGCATTTTAATGAACGTAAAGATAGGCTTACATTAAAGGAAAACTGCAGTTTGACTGGGTTCTGGTTGGGTGGGCCTTCAGAGGTTCTATCAGTTAACTATACTAATTAATTTGGAGATTCAAACCATACCAATAGAAACTAAATTTTTCTACATAATTTCATGTTAACTGCAGTTTCCCTTTATGGCACAAGGGGTCACACAACCTACCTAAAATGTTAATTGTATAGAAAATGATTTCTAAACCTTTAACAGTTAATATCCAATAATGTGTTATTTGTACATAGATTCTTTTGAGCCTTACCTTTGGTGCTCTCTCAATTTCAGTGCTATTGTACCTAGTAGCATAGAGATTTGTCTATCAATAGGACTGTATATTCCATCCCATGGGTGTGTTGGAAGTTTGGGGAGGAGGAGGGTGGTGGGAGGTGGGTGGGAGGTGGTGGTGGGTGGGAAAGCATGGGTGATAGTTC
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Task1_train_17959
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Here is a genetic alteration in HNRNPA1 (heterogeneous nuclear ribonucleoprotein A1) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Chronic progressive multiple sclerosis
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CTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAAAGAAGACACTGAAGAACATCACCTAAGAGATTATTTTGAACAGTATGGAAAAATTGAAGTGATTGAAATCATGACTGACCGAGGCAGTGGCAAGAAAAGGGGCTTTGCCTTTGTAACCTTTGACGACCATGACTCCGTGGATAAGATTGTCAGTAAGTATCAGATAGTGGCATTTAGTAAGGGTTCCACAATCTGTATGGCATTCTAAACCCTGATACCATGTTGTATCTATGTTTTTTTTTTAGTTCAGAAATACCATACTGTGAATGGCCACAACTGTGAAGTTAGAAAAGCCCTGTCAAAGCAAGAGATGGCTAGTGCTTCATCCAGCCAAAGAGGTATGCTTGTTGCTTAATTAAACCTTAAAGGTAACTTTGAGTTACTCCAGTATGAATGATTTAATGCTTAAACTTCATGTCTTAAGGTCGAAGTGGTTCTGGAAACTTTGGTGGTGGTCGTGGAGGTGGTTTCGGTGGGAATGACAACTTCGGTCGTGGAGGAAACTTCAGTGGTCGTGGTATGTATGGTTTATCTACATGTAGTTCTGACTTCTCACCATCTTTGCTATGAAGATTTTACAGTACGGGAACTGCATTCAGAATGTCACTTTAAGTCCAAGTCATACTTAAAACTTGAAACTTTTTCTTACAGGTGGCTTTGGTGGCAGCCGTGGTGGTGGTGGATATGGTGGCAGTGGGGATGGCTATAATGGATTTGGTAATGATGGTAAGTTTTTTAGGAATAAGTAGAGAAAAATTCCTGGCAACCTGGATCTTTAGAATAGGTTAGTAGAGACTAAAATTCTGGTGCATGTCAAACTCAACTTTGCCCATAACACGCATGCTGTGAGCAGGCCTTCAGCCGTTACACTTGCACAAGTTTTCATTGTCAAATACTTTTGTCTTATTGAGAAGAATTGTATTCTTGTAGGTGGTTATGGAGGAGGCGGCCCTGGTTACTCTGGAGGAAGCAGAGGCTATGGAAGTGGTGGACAGGGTTATGGAAACCAGGGCAGTGGCTATGGCGGGAGTGGCAGCTATGACAGCTATAACAACGGAGGCGGAGGCGGCTTTGGCGGTGGTAGTGGTAGGTATCCAGTGATCCAAGTACTTGGTGTGACAGCTAGATTAGCCTTTTAGAGCTTGGGTTCTGGTGCTGTTGAAGCATTGTGTGGTACACTGCATGGTATATTAAAAACAAATGGGCTTGCTATGCTACCTCCTCCTAGCTTTAAGCTGGGGCCGCCTCACTCCCAAATAGTAGAGATAAGTGGATAGTGTTGTCTTTGAGTTAGATTAGTATCATAGAAGGATTTAGTATTTTAACTCCTTTGGGACCTTAGGCGCTTAGTTGATGTATCCAAGATACTTCTGCTTGCTGTGGCCCTGGATCCGTGAAGGCCTTCAAGGCTGAAGGGTATGCTTGTGCCACTCTGAAAATCTCTTTATTTTATGTCATGGTGAGTTAGGCCAGTTTTCTTTGTATTACTGGATTATTCAACTGAATGCCTTTCCCAGAGAATGAAATGCAAAGATTGGAGTCACCATAGTTTGGGAGAAAGGAAGGCTGATAACTCAACCTTATTTTATTCTGACTGCTAAACAGAATTGGAAACTAACATCATCCTCAGGTAACAGATAAAGGCCCTCTTTCCCATTCATAGGAAGCAATTTTGGAGGTGGTGGAAGCTACAATGATTTTGGGAATTACAACAATCAGTCTTCAAATTTTGGACCCATGAAGGGAGGAAATTTTGGAGGCAGAAGCTCTGGCCCCTATGGCGGTGGAGGCCAATACTTTGCAAAACCACGAAACCAAGGTATGGTATCTATGTAATTTTGGATAATGTCAAAAGAGTGTCTGTAGCTACTGCTGGGAAGAAAGCCCTTTAACTGCTATGTCTGGGCAGCAAAACGTTTATAGTTTAGAACCTTCAGAAAGTGATAATTTGATCACAAATTAGAAAAATCATGGGACCTCTTTACCACCTCCCTTGTAGTAGGGCCATTTTTAAATGGCCAGACACTTGAATTTAACTTTTATTATCCCAAATATGAAAACATTACTGTTGGCACTTTGAAACTTTAAAAGAAAAATTGTACTTTTCAGGTGGCTATGGCGGTTCCAGCAGCAGCAGTAGCTATGGCAGTGGCAGAAGATTTTAATTAGGTAAGTAAGCACCTTTTTGTGTGTTGACATAATTTTTTAAATTGCTGATGAACCCAATAACCCTAATGTAGCTGAGCAGTGCAACATAGTTAACATTATAATTGCAGTAATTGTGGATATAAAGTTAATATTCAGATCAGCAAAATTTGTGGGAAACAAACTTGATATTGGATTGTAGCCTTGAGTCTTAATATGTTTAGATTAACAACTTTATTCCATATTGTTCAACAGGAAACAAAGCTTAGCAGGAGAGGAGAGCCAGAGAAGTGACAGGGAAGCTACAGGTTACAACAGATTTGTGAACTCAGCCAAGCACAGTGGTGGCAGGGCCTAGCTGCTACAAAGAAGACATGTTTTAGACAAATACTCATGTGTATGGGCAAAAAACTCGAGGACTGTATTTGTGACTAATTGTATAACAGGTTATTTTAGTTTCTGTTCTGTGGAAAGTGTAAAGCATTCCAACAAAGGGTTTTAATGTAGATTTTTTTTTTTGCACCCCATGCTGTTGATTGCTAAATGTAACAGTCTGATCGTGACGCTGAATAAATGTCTTTTTTTTAATGTGCTGTGTAAAGTTAGTCTACTCTTAAGCCATCTTGGTAAATTTCCCCAACAGTGTGAAGTTAGAATTCCTTCAGGGTGATGCCAGGTTCTATTTGGAATTTATATACAACCTGCTTGGGTGGAGAAGCCATTGTCTTCGGAAACCTTGGTGTAGTTGAACTGATAGTTACTGTTGTGACCTGAAGTTCACCATTAAAAGGGATTACCCAAGCAAAATCATGGAATGGTTATAAAAGTGATTGTTGGCACATCCTATGCAATATATCTAAATTGAATAATGGTACCAGATAAAATTATAGATGGGAATGAAGCTTGTGTATCCATTATCATGTGTAATCAATAAACGATTTAATTCTCTTGAATGAAATGACAACTGTATGGATTTGGGACTGGCAGAGATTTGGACTTTCCCTACCCACTCCCCCTGATAATAATGTTGAATGCTTCTATCACAATTCAAGTTCAAAGCTCTGCCAGGGAATAGAAACTAGCTGCTGGCTAATGCCGCTCCATAAATCCGCAGATTTGAAGTGTCTGGGAGGCCTTTTAAAAATAACTAATATCAGAAAGCATTTTAATGAACGTAAAGATAGGCTTACATTAAAGGAAAACTGCAGTTTGACTGGGTTCTGGTTGGGTGGGCCTTCAGAGGTTCTATCAGTTAACTATACTAATTAATTTGGAGATTCAAACCATACCAATAGAAACTAAATTTTTCTACATAATTTCATGTTAACTGCAGTTTCCCTTTATGGCACAAGGGGTCACACAACCTACCTAAAATGTTAATTGTATAGAAAATGATTTCTAAACCTTTAACAGTTAATATCCAATAATGTGTTATTTGTACATAGATTCTTTTGAGCCTTACCTTTGGTGCTCTCTCAATTTCAGTGCTATTGTACCTAGTAGCATAGAGATTTGTCTATCAATAGGACTGTATATTCCATCCCATGGGTGTGTTGGAAGTTTGGGGAGGAGGAGGGTGGTGGGAGGTGGGTGGGAGGTGGTGGTGGGTGGGAAAGCATGGGTGATAGTTCCATGATACTGGCTGAGTTTGCAAT
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CTGTGGAGGAGGTGGATGCAGCTATGAATGCAAGGCCACACAAGGTGGATGGAAGAGTTGTGGAACCAAAGAGAGCTGTCTCCAGAGAAGTGAGTGGGTTTTTTTTCTTCTTCTTCTTAAACTTACTTGGATATGTGCTGCTATGGACTTAAGATTCGGGAGTTTTCTAAACTTACCAAAATTTTTTATTCGAGTATAGGCTTTGCTAATCTAAACCTATGGTTTTTCTCCTATTAGGATTCTCAAAGACCAGGTGCCCACTTAACTGTGAAAAAGATATTTGTTGGTGGCATTAAAGAAGACACTGAAGAACATCACCTAAGAGATTATTTTGAACAGTATGGAAAAATTGAAGTGATTGAAATCATGACTGACCGAGGCAGTGGCAAGAAAAGGGGCTTTGCCTTTGTAACCTTTGACGACCATGACTCCGTGGATAAGATTGTCAGTAAGTATCAGATAGTGGCATTTAGTAAGGGTTCCACAATCTGTATGGCATTCTAAACCCTGATACCATGTTGTATCTATGTTTTTTTTTTAGTTCAGAAATACCATACTGTGAATGGCCACAACTGTGAAGTTAGAAAAGCCCTGTCAAAGCAAGAGATGGCTAGTGCTTCATCCAGCCAAAGAGGTATGCTTGTTGCTTAATTAAACCTTAAAGGTAACTTTGAGTTACTCCAGTATGAATGATTTAATGCTTAAACTTCATGTCTTAAGGTCGAAGTGGTTCTGGAAACTTTGGTGGTGGTCGTGGAGGTGGTTTCGGTGGGAATGACAACTTCGGTCGTGGAGGAAACTTCAGTGGTCGTGGTATGTATGGTTTATCTACATGTAGTTCTGACTTCTCACCATCTTTGCTATGAAGATTTTACAGTACGGGAACTGCATTCAGAATGTCACTTTAAGTCCAAGTCATACTTAAAACTTGAAACTTTTTCTTACAGGTGGCTTTGGTGGCAGCCGTGGTGGTGGTGGATATGGTGGCAGTGGGGATGGCTATAATGGATTTGGTAATGATGGTAAGTTTTTTAGGAATAAGTAGAGAAAAATTCCTGGCAACCTGGATCTTTAGAATAGGTTAGTAGAGACTAAAATTCTGGTGCATGTCAAACTCAACTTTGCCCATAACACGCATGCTGTGAGCAGGCCTTCAGCCGTTACACTTGCACAAGTTTTCATTGTCAAATACTTTTGTCTTATTGAGAAGAATTGTATTCTTGTAGGTGGTTATGGAGGAGGCGGCCCTGGTTACTCTGGAGGAAGCAGAGGCTATGGAAGTGGTGGACAGGGTTATGGAAACCAGGGCAGTGGCTATGGCGGGAGTGGCAGCTATGACAGCTATAACAACGGAGGCGGAGGCGGCTTTGGCGGTGGTAGTGGTAGGTATCCAGTGATCCAAGTACTTGGTGTGACAGCTAGATTAGCCTTTTAGAGCTTGGGTTCTGGTGCTGTTGAAGCATTGTGTGGTACACTGCATGGTATATTAAAAACAAATGGGCTTGCTATGCTACCTCCTCCTAGCTTTAAGCTGGGGCCGCCTCACTCCCAAATAGTAGAGATAAGTGGATAGTGTTGTCTTTGAGTTAGATTAGTATCATAGAAGGATTTAGTATTTTAACTCCTTTGGGACCTTAGGCGCTTAGTTGATGTATCCAAGATACTTCTGCTTGCTGTGGCCCTGGATCCGTGAAGGCCTTCAAGGCTGAAGGGTATGCTTGTGCCACTCTGAAAATCTCTTTATTTTATGTCATGGTGAGTTAGGCCAGTTTTCTTTGTATTACTGGATTATTCAACTGAATGCCTTTCCCAGAGAATGAAATGCAAAGATTGGAGTCACCATAGTTTGGGAGAAAGGAAGGCTGATAACTCAACCTTATTTTATTCTGACTGCTAAACAGAATTGGAAACTAACATCATCCTCAGGTAACAGATAAAGGCCCTCTTTCCCATTCATAGGAAGCAATTTTGGAGGTGGTGGAAGCTACAATGATTTTGGGAATTACAACAATCAGTCTTCAAATTTTGGACCCATGAAGGGAGGAAATCTTGGAGGCAGAAGCTCTGGCCCCTATGGCGGTGGAGGCCAATACTTTGCAAAACCACGAAACCAAGGTATGGTATCTATGTAATTTTGGATAATGTCAAAAGAGTGTCTGTAGCTACTGCTGGGAAGAAAGCCCTTTAACTGCTATGTCTGGGCAGCAAAACGTTTATAGTTTAGAACCTTCAGAAAGTGATAATTTGATCACAAATTAGAAAAATCATGGGACCTCTTTACCACCTCCCTTGTAGTAGGGCCATTTTTAAATGGCCAGACACTTGAATTTAACTTTTATTATCCCAAATATGAAAACATTACTGTTGGCACTTTGAAACTTTAAAAGAAAAATTGTACTTTTCAGGTGGCTATGGCGGTTCCAGCAGCAGCAGTAGCTATGGCAGTGGCAGAAGATTTTAATTAGGTAAGTAAGCACCTTTTTGTGTGTTGACATAATTTTTTAAATTGCTGATGAACCCAATAACCCTAATGTAGCTGAGCAGTGCAACATAGTTAACATTATAATTGCAGTAATTGTGGATATAAAGTTAATATTCAGATCAGCAAAATTTGTGGGAAACAAACTTGATATTGGATTGTAGCCTTGAGTCTTAATATGTTTAGATTAACAACTTTATTCCATATTGTTCAACAGGAAACAAAGCTTAGCAGGAGAGGAGAGCCAGAGAAGTGACAGGGAAGCTACAGGTTACAACAGATTTGTGAACTCAGCCAAGCACAGTGGTGGCAGGGCCTAGCTGCTACAAAGAAGACATGTTTTAGACAAATACTCATGTGTATGGGCAAAAAACTCGAGGACTGTATTTGTGACTAATTGTATAACAGGTTATTTTAGTTTCTGTTCTGTGGAAAGTGTAAAGCATTCCAACAAAGGGTTTTAATGTAGATTTTTTTTTTTGCACCCCATGCTGTTGATTGCTAAATGTAACAGTCTGATCGTGACGCTGAATAAATGTCTTTTTTTTAATGTGCTGTGTAAAGTTAGTCTACTCTTAAGCCATCTTGGTAAATTTCCCCAACAGTGTGAAGTTAGAATTCCTTCAGGGTGATGCCAGGTTCTATTTGGAATTTATATACAACCTGCTTGGGTGGAGAAGCCATTGTCTTCGGAAACCTTGGTGTAGTTGAACTGATAGTTACTGTTGTGACCTGAAGTTCACCATTAAAAGGGATTACCCAAGCAAAATCATGGAATGGTTATAAAAGTGATTGTTGGCACATCCTATGCAATATATCTAAATTGAATAATGGTACCAGATAAAATTATAGATGGGAATGAAGCTTGTGTATCCATTATCATGTGTAATCAATAAACGATTTAATTCTCTTGAATGAAATGACAACTGTATGGATTTGGGACTGGCAGAGATTTGGACTTTCCCTACCCACTCCCCCTGATAATAATGTTGAATGCTTCTATCACAATTCAAGTTCAAAGCTCTGCCAGGGAATAGAAACTAGCTGCTGGCTAATGCCGCTCCATAAATCCGCAGATTTGAAGTGTCTGGGAGGCCTTTTAAAAATAACTAATATCAGAAAGCATTTTAATGAACGTAAAGATAGGCTTACATTAAAGGAAAACTGCAGTTTGACTGGGTTCTGGTTGGGTGGGCCTTCAGAGGTTCTATCAGTTAACTATACTAATTAATTTGGAGATTCAAACCATACCAATAGAAACTAAATTTTTCTACATAATTTCATGTTAACTGCAGTTTCCCTTTATGGCACAAGGGGTCACACAACCTACCTAAAATGTTAATTGTATAGAAAATGATTTCTAAACCTTTAACAGTTAATATCCAATAATGTGTTATTTGTACATAGATTCTTTTGAGCCTTACCTTTGGTGCTCTCTCAATTTCAGTGCTATTGTACCTAGTAGCATAGAGATTTGTCTATCAATAGGACTGTATATTCCATCCCATGGGTGTGTTGGAAGTTTGGGGAGGAGGAGGGTGGTGGGAGGTGGGTGGGAGGTGGTGGTGGGTGGGAAAGCATGGGTGATAGTTCCATGATACTGGCTGAGTTTGCAAT
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Task1_train_17960
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Consider a variant on Chromosome 12 in gene NCKAP1L (NCK associated protein 1 like). Determine its clinical classification and disease relevance.
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Pathogenic; Immunodeficiency 72 with autoinflammation
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ATGGCTAATATCATTGAACATCTTTTCATGTGCTTATTATAAATATATATATATATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGCTTACTGCAACCTCTGCCTCCCAGGCTCAAACAATTCTCGTGCCTCAGCCTCTTGAGTGGCTGTGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTTATTTTTATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTCTCTTGAACTCCTGGCCTCAAGTGAACCTCCCACCTCAGCCTTCCAAAATGCTGGGATTACAGGTGTGAACCGCCATGCTTGGCATCATATTTTTTTTATGGTATTAAGTGCCTGTTCAAATCTTTTGGCAACATATTAAAAAAAAAAAATATATATATATATATATATATATATATTCCTTAATCTATCAATTTTACTTTTTTAGAAATGAAAGTACCAATATTCAGTGGAGAAGGCTAGGAACTAGGAACAAAACGAATCAGTGGAAGAAAGGCTGAATGAATTGTGGTATACCATGGGCTATTATGCAGCTATGAAAAAGGATGCATTCATGCTCTAGGAGATAACTCTGAGAACTTTTGGCAAGTAGGAGTGAATGAGCAAAGCAAAATTACAAGCAGGGAATATTACCTCAATTTTGTAACACAAATAATGACCAAAAAACCTGTTTCTCTCTCTCTCTTTTCCTTTTATAATCTAATAGTATTATATAAATAGGGAGAAAAATAAGAAAATATTATAAGAAAAATAATATCAGGTTGCTAAAGTGGTTTACCTGGGCGTTCTGCAGGATGGAGTGTGGGTGCTGATGTTGGGGGAAAGAAGTGTCTGCAATAAAAGTGCATATTAATTTAGGTAAAATTATGTGTGAAAAGGAGAAGAATCCCTATCATACTAGAATGAGAGTTAAATGAAGTATATGCAAATTACTTGGTAAGTACCTCACACATAGTGAATTGTCAGTAAATAGAAACTCATGGAAAATTAGACAGTATTCCCGTTTGTTAATAATTAACTCCTGAGAACAGGAGATAGAATCCAGGAACAGACTTACTTCGTGGTTTGTCAATACGAATCGTTTGATTTTTGGCATTTTTGAAGCTACCTATTAGATAATCTACATTTTACAACCTTTTTTAATTTGGAGGAATGGGGCATAGGGATGATAAGCTCAGGAAAAGTGTGTGTAATGTAATAGAGACTTGTGCCTGTGGAAATGTAGGCATTTGGCAGTGTAGGTCATAGGGGCCCACTGGTGGCTTACTGAGGAGGAACTTCCTCCCTCTTTTTCACAGTGACTTTTCTCTGTTACTTGGTGGCTTTCTAGGACCTCTAAGGGAGAGGTCCCTTTCCCTCAAGTTCTGGTAGTACGTCACCTTCTCTTTGATTTTTTATTAATTCTTGTCTTCACTTCCACCCCCAGGATCATGTATATGAACTTCTCAACACCATTGATGCCTGCCAGTGCCATTTTGATATCGTAAGAACCTTTGCAATTCTCTTCTATCGTAGAGTCAAAGAAAAGGCCAGGTCTAGGTTGGGAGGTCTAGGTCTACTCACAGGATGGGGTGGGAAGGGACTGGAAGGATGGCTATTTTGTTTATTCCTTCTCAGGACTACTATAATTGTTTTGTAAAAAGTGCTGAAGTGAAAATATATTTACATGTTAAGCAGATCAGCAATGTGATTTAATTAATTAAAAAATTACATAAAAATCTTCTTCACCTTTTCCATCTCCTAAAAGCTACCTTATTTCCTGGCCTCCTTGTATATTGAGCTCACTTTTAGCCCCTGACTTTTGTTCCAATTTTCTTATTCTTCTTTTCAATCCTGTCAGTTCCTACTTCTAAATAGATTCACTCGGAATATATTGAGCACTGTCCAGAGTGGTTGGGGAAAGAAGGAGATCCAGGTTAATTGGCCATGCTGTCCTTGGGTTCCTATGTATTTTCCTTGTAGAATCTCAACTTTGATTTCACTCGGAGTTACCTGGACTTGATTGTAACTTACACCTCAGTCATTTTACTTCTGTCACGGATTGAAGATCGGCGGATACTCATTGGCATGTACAATTGTGCCCATGAGATGCTGCATGGGCATGGGTGAGTTAAGGCGAGAGTATTATATGAAGAGTCTCATACATGGTGCTATGATGTAGAGAGTCCCTCATGCAAAGGAAATTGATGCCATGATTTCTTATATGAGAACCTATAATCTACATTGACCCAGGCAAAATAAGGTACACTTTTACATATTCAGTTGACTCTGAAACAACACGGGTTTGAACTACGCAGGTCCACTTTATACATGGATTTTTTTCAACCAAACATGGATTGAAAATGTAGTGTTCATGGGATGTGAAATCCACCCTTAACAGAGGGCTGACTTTTTAAATGGTGTGGGTTCCGCAGCACTGACTGTGGGACTTCAGTATGCACGGGATATTGGCATACGTGGGAGTCTTGGAACCAATCTCCCTGCTATAATGAGAGACAACTGTGGCTAACTCTTGAATATCTGCTAGTGGATTATTCAATTTGCATCATCTCTGAACAATTTTTAATCCTGGACTGGCTTCTACTCTGATTTTCAGGTTATTACAAAAGGCAAAGAAAATTCTTTTTAGTGTTGGTAGGAATAATATTAGTAAGGTAAATCCATTAGAGGTAACTAATGCGTGATAATACATTTGAAGCCAAATATAAATGGATTTTGAATTGTCTGCAGTTCTGTCCCCCTCCATTAGTGCAAATGTAAGTATTTAAGGGCTGAAAAAATGAAGACTAGAGGGATCAGAGTGGGTTGTGGCACATCATTCTATGATGATGTGTATTCCCACATGCCTACGTGGATACCTAGACACATGCCTTACCTGTTAGCTTTGAATATTTATATATCCTTTTGGGTTGTATAACGATTTGAATCTAGGCATATTACTGGATTTTGAACTAATTAACAGATTTATAGAGTACCTATCATGTGTCCAACCCTATTTTTGTGCTTATAAGGAAGAAAATTTCATGGACCTGCCCAAAATGAAATGGTTCTATTTAGCCATAGCTTAGTAACCTGATCCTGGAGTGGGGTATCTTTATATGTAATTTACAGTGTAGTATGTATATCTTTGGAGGTGGTGGGGAGTGCCAGCCTATGCACATATCTTTATCCTATATGCAAACATAAGAGTTCAAGTCATGGGTAAGGGAGGGCTGTAACCCCTCTCCTCTGCTTTCTTCTAGTGACCCCAGTTTTGCCCGTCTGGGTCAGATGGTCTTGGAGTATGACCACCCTCTGAAGAAGCTGACAGAAGAGTTTGGGCCTCACACAAAGGCAAGTTCCCTGACAATGGAGAATTCCTCAGGCAAAAGTATATTGTCCTCATGATTGCCGCTAAGGTTTCATTTGCTTTTCCCCACAGGCTGTGAGTGGAGCCCTCCTCTCTTTGCATTTCCTCTTTGTCCGAAGAAACCAGGGGGCTGAGCAGTGGCGCAGTGCCCAACTTCTAAGCCTCATCAGCAACCCCCCAGCCATGATTAACCCTGCTAATTCAGATACAGTGAGTGCCCTTTTCCTTTTGTTAGTGGAAGCATTCTCTTTGCCAAGGCCATCATCTCTGTAGAGGGTGCTTCTTTCAGGAAATATCAGTACTAAAGAATGCTTTAGTCTTCTTCTAGGGTATGTCTCTAAGTTGAGCACTTCTTGTAGCTAAAAAATCATGGTTGGTTTGGGGCTTTTGTTTGGATCAGGGTTAGTGGTTTAACAAAAGTGATCTATAAGCAGTTAGCCTGTCCATAGAAGGAATTTAGTAAATATTCATAGAATGAATGAATGGATGAAACAGAGTCATTAGGCACCTATTAAGCCTAGCAGCAACTTGATTTTAGGAATCAATTAACTTATTTTTATTTTTTTGAGACAGTGTCTTACTCTGTCACCCAGGCTGGAGTACACTGGCATGATCACTGCTTACTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCGAGTAGCTG
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ATGGCTAATATCATTGAACATCTTTTCATGTGCTTATTATAAATATATATATATATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGCTTACTGCAACCTCTGCCTCCCAGGCTCAAACAATTCTCGTGCCTCAGCCTCTTGAGTGGCTGTGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTTATTTTTATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTCTCTTGAACTCCTGGCCTCAAGTGAACCTCCCACCTCAGCCTTCCAAAATGCTGGGATTACAGGTGTGAACCGCCATGCTTGGCATCATATTTTTTTTATGGTATTAAGTGCCTGTTCAAATCTTTTGGCAACATATTAAAAAAAAAAAATATATATATATATATATATATATATATTCCTTAATCTATCAATTTTACTTTTTTAGAAATGAAAGTACCAATATTCAGTGGAGAAGGCTAGGAACTAGGAACAAAACGAATCAGTGGAAGAAAGGCTGAATGAATTGTGGTATACCATGGGCTATTATGCAGCTATGAAAAAGGATGCATTCATGCTCTAGGAGATAACTCTGAGAACTTTTGGCAAGTAGGAGTGAATGAGCAAAGCAAAATTACAAGCAGGGAATATTACCTCAATTTTGTAACACAAATAATGACCAAAAAACCTGTTTCTCTCTCTCTCTTTTCCTTTTATAATCTAATAGTATTATATAAATAGGGAGAAAAATAAGAAAATATTATAAGAAAAATAATATCAGGTTGCTAAAGTGGTTTACCTGGGCGTTCTGCAGGATGGAGTGTGGGTGCTGATGTTGGGGGAAAGAAGTGTCTGCAATAAAAGTGCATATTAATTTAGGTAAAATTATGTGTGAAAAGGAGAAGAATCCCTATCATACTAGAATGAGAGTTAAATGAAGTATATGCAAATTACTTGGTAAGTACCTCACACATAGTGAATTGTCAGTAAATAGAAACTCATGGAAAATTAGACAGTATTCCCGTTTGTTAATAATTAACTCCTGAGAACAGGAGATAGAATCCAGGAACAGACTTACTTCGTGGTTTGTCAATACGAATCGTTTGATTTTTGGCATTTTTGAAGCTACCTATTAGATAATCTACATTTTACAACCTTTTTTAATTTGGAGGAATGGGGCATAGGGATGATAAGCTCAGGAAAAGTGTGTGTAATGTAATAGAGACTTGTGCCTGTGGAAATGTAGGCATTTGGCAGTGTAGGTCATAGGGGCCCACTGGTGGCTTACTGAGGAGGAACTTCCTCCCTCTTTTTCACAGTGACTTTTCTCTGTTACTTGGTGGCTTTCTAGGACCTCTAAGGGAGAGGTCCCTTTCCCTCAAGTTCTGGTAGTACGTCACCTTCTCTTTGATTTTTTATTAATTCTTGTCTTCACTTCCACCCCCAGGATCATGTATATGAACTTCTCAACACCATTGATGCCTGCCAGTGCCATTTTGATATCGTAAGAACCTTTGCAATTCTCTTCTATCGTAGAGTCAAAGAAAAGGCCAGGTCTAGGTTGGGAGGTCTAGGTCTACTCACAGGATGGGGTGGGAAGGGACTGGAAGGATGGCTATTTTGTTTATTCCTTCTCAGGACTACTATAATTGTTTTGTAAAAAGTGCTGAAGTGAAAATATATTTACATGTTAAGCAGATCAGCAATGTGATTTAATTAATTAAAAAATTACATAAAAATCTTCTTCACCTTTTCCATCTCCTAAAAGCTACCTTATTTCCTGGCCTCCTTGTATATTGAGCTCACTTTTAGCCCCTGACTTTTGTTCCAATTTTCTTATTCTTCTTTTCAATCCTGTCAGTTCCTACTTCTAAATAGATTCACTCGGAATATATTGAGCACTGTCCAGAGTGGTTGGGGAAAGAAGGAGATCCAGGTTAATTGGCCATGCTGTCCTTGGGTTCCTATGTATTTTCCTTGTAGAATCTCAACTTTGATTTCACTTGGAGTTACCTGGACTTGATTGTAACTTACACCTCAGTCATTTTACTTCTGTCACGGATTGAAGATCGGCGGATACTCATTGGCATGTACAATTGTGCCCATGAGATGCTGCATGGGCATGGGTGAGTTAAGGCGAGAGTATTATATGAAGAGTCTCATACATGGTGCTATGATGTAGAGAGTCCCTCATGCAAAGGAAATTGATGCCATGATTTCTTATATGAGAACCTATAATCTACATTGACCCAGGCAAAATAAGGTACACTTTTACATATTCAGTTGACTCTGAAACAACACGGGTTTGAACTACGCAGGTCCACTTTATACATGGATTTTTTTCAACCAAACATGGATTGAAAATGTAGTGTTCATGGGATGTGAAATCCACCCTTAACAGAGGGCTGACTTTTTAAATGGTGTGGGTTCCGCAGCACTGACTGTGGGACTTCAGTATGCACGGGATATTGGCATACGTGGGAGTCTTGGAACCAATCTCCCTGCTATAATGAGAGACAACTGTGGCTAACTCTTGAATATCTGCTAGTGGATTATTCAATTTGCATCATCTCTGAACAATTTTTAATCCTGGACTGGCTTCTACTCTGATTTTCAGGTTATTACAAAAGGCAAAGAAAATTCTTTTTAGTGTTGGTAGGAATAATATTAGTAAGGTAAATCCATTAGAGGTAACTAATGCGTGATAATACATTTGAAGCCAAATATAAATGGATTTTGAATTGTCTGCAGTTCTGTCCCCCTCCATTAGTGCAAATGTAAGTATTTAAGGGCTGAAAAAATGAAGACTAGAGGGATCAGAGTGGGTTGTGGCACATCATTCTATGATGATGTGTATTCCCACATGCCTACGTGGATACCTAGACACATGCCTTACCTGTTAGCTTTGAATATTTATATATCCTTTTGGGTTGTATAACGATTTGAATCTAGGCATATTACTGGATTTTGAACTAATTAACAGATTTATAGAGTACCTATCATGTGTCCAACCCTATTTTTGTGCTTATAAGGAAGAAAATTTCATGGACCTGCCCAAAATGAAATGGTTCTATTTAGCCATAGCTTAGTAACCTGATCCTGGAGTGGGGTATCTTTATATGTAATTTACAGTGTAGTATGTATATCTTTGGAGGTGGTGGGGAGTGCCAGCCTATGCACATATCTTTATCCTATATGCAAACATAAGAGTTCAAGTCATGGGTAAGGGAGGGCTGTAACCCCTCTCCTCTGCTTTCTTCTAGTGACCCCAGTTTTGCCCGTCTGGGTCAGATGGTCTTGGAGTATGACCACCCTCTGAAGAAGCTGACAGAAGAGTTTGGGCCTCACACAAAGGCAAGTTCCCTGACAATGGAGAATTCCTCAGGCAAAAGTATATTGTCCTCATGATTGCCGCTAAGGTTTCATTTGCTTTTCCCCACAGGCTGTGAGTGGAGCCCTCCTCTCTTTGCATTTCCTCTTTGTCCGAAGAAACCAGGGGGCTGAGCAGTGGCGCAGTGCCCAACTTCTAAGCCTCATCAGCAACCCCCCAGCCATGATTAACCCTGCTAATTCAGATACAGTGAGTGCCCTTTTCCTTTTGTTAGTGGAAGCATTCTCTTTGCCAAGGCCATCATCTCTGTAGAGGGTGCTTCTTTCAGGAAATATCAGTACTAAAGAATGCTTTAGTCTTCTTCTAGGGTATGTCTCTAAGTTGAGCACTTCTTGTAGCTAAAAAATCATGGTTGGTTTGGGGCTTTTGTTTGGATCAGGGTTAGTGGTTTAACAAAAGTGATCTATAAGCAGTTAGCCTGTCCATAGAAGGAATTTAGTAAATATTCATAGAATGAATGAATGGATGAAACAGAGTCATTAGGCACCTATTAAGCCTAGCAGCAACTTGATTTTAGGAATCAATTAACTTATTTTTATTTTTTTGAGACAGTGTCTTACTCTGTCACCCAGGCTGGAGTACACTGGCATGATCACTGCTTACTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCGAGTAGCTG
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Task1_train_17961
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With a mutation on Chromosome 12 in gene NCKAP1L (NCK associated protein 1 like), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Immunodeficiency 72 with autoinflammation
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TTATAAATATATATATATATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGCTTACTGCAACCTCTGCCTCCCAGGCTCAAACAATTCTCGTGCCTCAGCCTCTTGAGTGGCTGTGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTTATTTTTATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTCTCTTGAACTCCTGGCCTCAAGTGAACCTCCCACCTCAGCCTTCCAAAATGCTGGGATTACAGGTGTGAACCGCCATGCTTGGCATCATATTTTTTTTATGGTATTAAGTGCCTGTTCAAATCTTTTGGCAACATATTAAAAAAAAAAAATATATATATATATATATATATATATATTCCTTAATCTATCAATTTTACTTTTTTAGAAATGAAAGTACCAATATTCAGTGGAGAAGGCTAGGAACTAGGAACAAAACGAATCAGTGGAAGAAAGGCTGAATGAATTGTGGTATACCATGGGCTATTATGCAGCTATGAAAAAGGATGCATTCATGCTCTAGGAGATAACTCTGAGAACTTTTGGCAAGTAGGAGTGAATGAGCAAAGCAAAATTACAAGCAGGGAATATTACCTCAATTTTGTAACACAAATAATGACCAAAAAACCTGTTTCTCTCTCTCTCTTTTCCTTTTATAATCTAATAGTATTATATAAATAGGGAGAAAAATAAGAAAATATTATAAGAAAAATAATATCAGGTTGCTAAAGTGGTTTACCTGGGCGTTCTGCAGGATGGAGTGTGGGTGCTGATGTTGGGGGAAAGAAGTGTCTGCAATAAAAGTGCATATTAATTTAGGTAAAATTATGTGTGAAAAGGAGAAGAATCCCTATCATACTAGAATGAGAGTTAAATGAAGTATATGCAAATTACTTGGTAAGTACCTCACACATAGTGAATTGTCAGTAAATAGAAACTCATGGAAAATTAGACAGTATTCCCGTTTGTTAATAATTAACTCCTGAGAACAGGAGATAGAATCCAGGAACAGACTTACTTCGTGGTTTGTCAATACGAATCGTTTGATTTTTGGCATTTTTGAAGCTACCTATTAGATAATCTACATTTTACAACCTTTTTTAATTTGGAGGAATGGGGCATAGGGATGATAAGCTCAGGAAAAGTGTGTGTAATGTAATAGAGACTTGTGCCTGTGGAAATGTAGGCATTTGGCAGTGTAGGTCATAGGGGCCCACTGGTGGCTTACTGAGGAGGAACTTCCTCCCTCTTTTTCACAGTGACTTTTCTCTGTTACTTGGTGGCTTTCTAGGACCTCTAAGGGAGAGGTCCCTTTCCCTCAAGTTCTGGTAGTACGTCACCTTCTCTTTGATTTTTTATTAATTCTTGTCTTCACTTCCACCCCCAGGATCATGTATATGAACTTCTCAACACCATTGATGCCTGCCAGTGCCATTTTGATATCGTAAGAACCTTTGCAATTCTCTTCTATCGTAGAGTCAAAGAAAAGGCCAGGTCTAGGTTGGGAGGTCTAGGTCTACTCACAGGATGGGGTGGGAAGGGACTGGAAGGATGGCTATTTTGTTTATTCCTTCTCAGGACTACTATAATTGTTTTGTAAAAAGTGCTGAAGTGAAAATATATTTACATGTTAAGCAGATCAGCAATGTGATTTAATTAATTAAAAAATTACATAAAAATCTTCTTCACCTTTTCCATCTCCTAAAAGCTACCTTATTTCCTGGCCTCCTTGTATATTGAGCTCACTTTTAGCCCCTGACTTTTGTTCCAATTTTCTTATTCTTCTTTTCAATCCTGTCAGTTCCTACTTCTAAATAGATTCACTCGGAATATATTGAGCACTGTCCAGAGTGGTTGGGGAAAGAAGGAGATCCAGGTTAATTGGCCATGCTGTCCTTGGGTTCCTATGTATTTTCCTTGTAGAATCTCAACTTTGATTTCACTCGGAGTTACCTGGACTTGATTGTAACTTACACCTCAGTCATTTTACTTCTGTCACGGATTGAAGATCGGCGGATACTCATTGGCATGTACAATTGTGCCCATGAGATGCTGCATGGGCATGGGTGAGTTAAGGCGAGAGTATTATATGAAGAGTCTCATACATGGTGCTATGATGTAGAGAGTCCCTCATGCAAAGGAAATTGATGCCATGATTTCTTATATGAGAACCTATAATCTACATTGACCCAGGCAAAATAAGGTACACTTTTACATATTCAGTTGACTCTGAAACAACACGGGTTTGAACTACGCAGGTCCACTTTATACATGGATTTTTTTCAACCAAACATGGATTGAAAATGTAGTGTTCATGGGATGTGAAATCCACCCTTAACAGAGGGCTGACTTTTTAAATGGTGTGGGTTCCGCAGCACTGACTGTGGGACTTCAGTATGCACGGGATATTGGCATACGTGGGAGTCTTGGAACCAATCTCCCTGCTATAATGAGAGACAACTGTGGCTAACTCTTGAATATCTGCTAGTGGATTATTCAATTTGCATCATCTCTGAACAATTTTTAATCCTGGACTGGCTTCTACTCTGATTTTCAGGTTATTACAAAAGGCAAAGAAAATTCTTTTTAGTGTTGGTAGGAATAATATTAGTAAGGTAAATCCATTAGAGGTAACTAATGCGTGATAATACATTTGAAGCCAAATATAAATGGATTTTGAATTGTCTGCAGTTCTGTCCCCCTCCATTAGTGCAAATGTAAGTATTTAAGGGCTGAAAAAATGAAGACTAGAGGGATCAGAGTGGGTTGTGGCACATCATTCTATGATGATGTGTATTCCCACATGCCTACGTGGATACCTAGACACATGCCTTACCTGTTAGCTTTGAATATTTATATATCCTTTTGGGTTGTATAACGATTTGAATCTAGGCATATTACTGGATTTTGAACTAATTAACAGATTTATAGAGTACCTATCATGTGTCCAACCCTATTTTTGTGCTTATAAGGAAGAAAATTTCATGGACCTGCCCAAAATGAAATGGTTCTATTTAGCCATAGCTTAGTAACCTGATCCTGGAGTGGGGTATCTTTATATGTAATTTACAGTGTAGTATGTATATCTTTGGAGGTGGTGGGGAGTGCCAGCCTATGCACATATCTTTATCCTATATGCAAACATAAGAGTTCAAGTCATGGGTAAGGGAGGGCTGTAACCCCTCTCCTCTGCTTTCTTCTAGTGACCCCAGTTTTGCCCGTCTGGGTCAGATGGTCTTGGAGTATGACCACCCTCTGAAGAAGCTGACAGAAGAGTTTGGGCCTCACACAAAGGCAAGTTCCCTGACAATGGAGAATTCCTCAGGCAAAAGTATATTGTCCTCATGATTGCCGCTAAGGTTTCATTTGCTTTTCCCCACAGGCTGTGAGTGGAGCCCTCCTCTCTTTGCATTTCCTCTTTGTCCGAAGAAACCAGGGGGCTGAGCAGTGGCGCAGTGCCCAACTTCTAAGCCTCATCAGCAACCCCCCAGCCATGATTAACCCTGCTAATTCAGATACAGTGAGTGCCCTTTTCCTTTTGTTAGTGGAAGCATTCTCTTTGCCAAGGCCATCATCTCTGTAGAGGGTGCTTCTTTCAGGAAATATCAGTACTAAAGAATGCTTTAGTCTTCTTCTAGGGTATGTCTCTAAGTTGAGCACTTCTTGTAGCTAAAAAATCATGGTTGGTTTGGGGCTTTTGTTTGGATCAGGGTTAGTGGTTTAACAAAAGTGATCTATAAGCAGTTAGCCTGTCCATAGAAGGAATTTAGTAAATATTCATAGAATGAATGAATGGATGAAACAGAGTCATTAGGCACCTATTAAGCCTAGCAGCAACTTGATTTTAGGAATCAATTAACTTATTTTTATTTTTTTGAGACAGTGTCTTACTCTGTCACCCAGGCTGGAGTACACTGGCATGATCACTGCTTACTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGTGCCACCATGGTTGACTAAT
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TTATAAATATATATATATATTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCTCAGCTTACTGCAACCTCTGCCTCCCAGGCTCAAACAATTCTCGTGCCTCAGCCTCTTGAGTGGCTGTGATTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTTATTTTTATTTTTAGTAGAGATGGGGTTTTGTCATGTTGGCCAGGCTCTCTTGAACTCCTGGCCTCAAGTGAACCTCCCACCTCAGCCTTCCAAAATGCTGGGATTACAGGTGTGAACCGCCATGCTTGGCATCATATTTTTTTTATGGTATTAAGTGCCTGTTCAAATCTTTTGGCAACATATTAAAAAAAAAAAATATATATATATATATATATATATATATTCCTTAATCTATCAATTTTACTTTTTTAGAAATGAAAGTACCAATATTCAGTGGAGAAGGCTAGGAACTAGGAACAAAACGAATCAGTGGAAGAAAGGCTGAATGAATTGTGGTATACCATGGGCTATTATGCAGCTATGAAAAAGGATGCATTCATGCTCTAGGAGATAACTCTGAGAACTTTTGGCAAGTAGGAGTGAATGAGCAAAGCAAAATTACAAGCAGGGAATATTACCTCAATTTTGTAACACAAATAATGACCAAAAAACCTGTTTCTCTCTCTCTCTTTTCCTTTTATAATCTAATAGTATTATATAAATAGGGAGAAAAATAAGAAAATATTATAAGAAAAATAATATCAGGTTGCTAAAGTGGTTTACCTGGGCGTTCTGCAGGATGGAGTGTGGGTGCTGATGTTGGGGGAAAGAAGTGTCTGCAATAAAAGTGCATATTAATTTAGGTAAAATTATGTGTGAAAAGGAGAAGAATCCCTATCATACTAGAATGAGAGTTAAATGAAGTATATGCAAATTACTTGGTAAGTACCTCACACATAGTGAATTGTCAGTAAATAGAAACTCATGGAAAATTAGACAGTATTCCCGTTTGTTAATAATTAACTCCTGAGAACAGGAGATAGAATCCAGGAACAGACTTACTTCGTGGTTTGTCAATACGAATCGTTTGATTTTTGGCATTTTTGAAGCTACCTATTAGATAATCTACATTTTACAACCTTTTTTAATTTGGAGGAATGGGGCATAGGGATGATAAGCTCAGGAAAAGTGTGTGTAATGTAATAGAGACTTGTGCCTGTGGAAATGTAGGCATTTGGCAGTGTAGGTCATAGGGGCCCACTGGTGGCTTACTGAGGAGGAACTTCCTCCCTCTTTTTCACAGTGACTTTTCTCTGTTACTTGGTGGCTTTCTAGGACCTCTAAGGGAGAGGTCCCTTTCCCTCAAGTTCTGGTAGTACGTCACCTTCTCTTTGATTTTTTATTAATTCTTGTCTTCACTTCCACCCCCAGGATCATGTATATGAACTTCTCAACACCATTGATGCCTGCCAGTGCCATTTTGATATCGTAAGAACCTTTGCAATTCTCTTCTATCGTAGAGTCAAAGAAAAGGCCAGGTCTAGGTTGGGAGGTCTAGGTCTACTCACAGGATGGGGTGGGAAGGGACTGGAAGGATGGCTATTTTGTTTATTCCTTCTCAGGACTACTATAATTGTTTTGTAAAAAGTGCTGAAGTGAAAATATATTTACATGTTAAGCAGATCAGCAATGTGATTTAATTAATTAAAAAATTACATAAAAATCTTCTTCACCTTTTCCATCTCCTAAAAGCTACCTTATTTCCTGGCCTCCTTGTATATTGAGCTCACTTTTAGCCCCTGACTTTTGTTCCAATTTTCTTATTCTTCTTTTCAATCCTGTCAGTTCCTACTTCTAAATAGATTCACTCGGAATATATTGAGCACTGTCCAGAGTGGTTGGGGAAAGAAGGAGATCCAGGTTAATTGGCCATGCTGTCCTTGGGTTCCTATGTATTTTCCTTGTAGAATCTCAACTTTGATTTCACTCGGAGTTACCTGGACTTGATTGTAACTTACACCTCATTCATTTTACTTCTGTCACGGATTGAAGATCGGCGGATACTCATTGGCATGTACAATTGTGCCCATGAGATGCTGCATGGGCATGGGTGAGTTAAGGCGAGAGTATTATATGAAGAGTCTCATACATGGTGCTATGATGTAGAGAGTCCCTCATGCAAAGGAAATTGATGCCATGATTTCTTATATGAGAACCTATAATCTACATTGACCCAGGCAAAATAAGGTACACTTTTACATATTCAGTTGACTCTGAAACAACACGGGTTTGAACTACGCAGGTCCACTTTATACATGGATTTTTTTCAACCAAACATGGATTGAAAATGTAGTGTTCATGGGATGTGAAATCCACCCTTAACAGAGGGCTGACTTTTTAAATGGTGTGGGTTCCGCAGCACTGACTGTGGGACTTCAGTATGCACGGGATATTGGCATACGTGGGAGTCTTGGAACCAATCTCCCTGCTATAATGAGAGACAACTGTGGCTAACTCTTGAATATCTGCTAGTGGATTATTCAATTTGCATCATCTCTGAACAATTTTTAATCCTGGACTGGCTTCTACTCTGATTTTCAGGTTATTACAAAAGGCAAAGAAAATTCTTTTTAGTGTTGGTAGGAATAATATTAGTAAGGTAAATCCATTAGAGGTAACTAATGCGTGATAATACATTTGAAGCCAAATATAAATGGATTTTGAATTGTCTGCAGTTCTGTCCCCCTCCATTAGTGCAAATGTAAGTATTTAAGGGCTGAAAAAATGAAGACTAGAGGGATCAGAGTGGGTTGTGGCACATCATTCTATGATGATGTGTATTCCCACATGCCTACGTGGATACCTAGACACATGCCTTACCTGTTAGCTTTGAATATTTATATATCCTTTTGGGTTGTATAACGATTTGAATCTAGGCATATTACTGGATTTTGAACTAATTAACAGATTTATAGAGTACCTATCATGTGTCCAACCCTATTTTTGTGCTTATAAGGAAGAAAATTTCATGGACCTGCCCAAAATGAAATGGTTCTATTTAGCCATAGCTTAGTAACCTGATCCTGGAGTGGGGTATCTTTATATGTAATTTACAGTGTAGTATGTATATCTTTGGAGGTGGTGGGGAGTGCCAGCCTATGCACATATCTTTATCCTATATGCAAACATAAGAGTTCAAGTCATGGGTAAGGGAGGGCTGTAACCCCTCTCCTCTGCTTTCTTCTAGTGACCCCAGTTTTGCCCGTCTGGGTCAGATGGTCTTGGAGTATGACCACCCTCTGAAGAAGCTGACAGAAGAGTTTGGGCCTCACACAAAGGCAAGTTCCCTGACAATGGAGAATTCCTCAGGCAAAAGTATATTGTCCTCATGATTGCCGCTAAGGTTTCATTTGCTTTTCCCCACAGGCTGTGAGTGGAGCCCTCCTCTCTTTGCATTTCCTCTTTGTCCGAAGAAACCAGGGGGCTGAGCAGTGGCGCAGTGCCCAACTTCTAAGCCTCATCAGCAACCCCCCAGCCATGATTAACCCTGCTAATTCAGATACAGTGAGTGCCCTTTTCCTTTTGTTAGTGGAAGCATTCTCTTTGCCAAGGCCATCATCTCTGTAGAGGGTGCTTCTTTCAGGAAATATCAGTACTAAAGAATGCTTTAGTCTTCTTCTAGGGTATGTCTCTAAGTTGAGCACTTCTTGTAGCTAAAAAATCATGGTTGGTTTGGGGCTTTTGTTTGGATCAGGGTTAGTGGTTTAACAAAAGTGATCTATAAGCAGTTAGCCTGTCCATAGAAGGAATTTAGTAAATATTCATAGAATGAATGAATGGATGAAACAGAGTCATTAGGCACCTATTAAGCCTAGCAGCAACTTGATTTTAGGAATCAATTAACTTATTTTTATTTTTTTGAGACAGTGTCTTACTCTGTCACCCAGGCTGGAGTACACTGGCATGATCACTGCTTACTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACTTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGTGCCACCATGGTTGACTAAT
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Task1_train_17962
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This mutation is located in gene BLOC1S1-RDH5, RDH5 (BLOC1S1-RDH5 readthrough| retinol dehydrogenase 5) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Pigmentary retinal dystrophy
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TACCTCACCACCCCAATCCTGGGCCCCCATTGGCTGCCTCCAGTCAGGTTACCTCAGGTTTAGGTTAAGGAGGAAGTAGGGTGGTCCCAGAAACCCCATCTATAGCCCCAGTGTCAGAAAAGGTAGAGAAAGAAAGAAAAGCAGTTGGTGGGTCCAAGTAAAGCCTTTTCCAGGAGATGAATAAAACGTATTCCCCAGACTGGAAGCCATACTCTACCCATTCTGATTCCTGGGCTCCCACCTCCTCTCCCCCTTCCCAGGAAATTGGGGATGTGGAGAACTGGGCTCGGAGCATCGAGCTGGACATGCGCACCATTGCCACTGCACTGGAATATGTCTACAAAGGGCAGCTGCAGTCTGCCCCTTCCTAGCCCCTGTTCCCTCCCCCAACCCTATCCCTCCTACCTCACCCGCAGGGGGAAGGAGGGAGGCTGACAAGCCTTGAATAAAACACAAGCCTCCGTTTCTCTGTGGTGTGTTTCAGAGAGCTACTAGCTCCAGTGTCGGGGGTGGGAGTGGAAGGTTCAAAGGTGGTTTCCCTGAGGGACAGGTACCTTTTGGGGAGAGGGTGGAACTAGCTTCCTCTTACTATCCCAACTCTCTTCTCCTCCATGGCCCTTGTGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCCCTCCTCCTTGGAGACCATGACATAGATGGTCAGGAACCCAGGCTGAGAAAGACAGCCAAGGGGTGGGGGGAGCCTAGGCAAATCTGGCCTCTGCCAAGTCCTGGCTTCAGCCAGGCAAGCTCCAGCCTCCCTGGCTCCTCCTCCTCCTCAGTCCTATCCCCACCCTGTCACACATACACTTAATACGCCTGGCATCCAAGTCCACCCACTCCGGACTTTGGCCTTAGCAGTAGTTAGTGTGGGAGGCTGGGAAGACTGGGAGCAGTCTCTTAAACAAAAGCAAAAGAATAAGCTTCGGGCGCTGTAGTACCTGCCAGCTTTCGCCACAGGAGGTAAGTGGATACTGGGAGCTGGGGGAACTGAGAAGACTAGCCAGATATTACATGTATTGCCAACTCAAAACTTTCAGCTTTTAACATGCTTCCTCACACATTATCCCCTTTGATCCTCCACAACTCTGAGGTGGACCTGGTGGGTCTTAGCCCCACTTGGTAGATGAGAAAATAGGTTGAGAGAGACAGTGAGATGCTCAGTATCACACAGCAAACCTCTTGGCCCTATACATCATTCCAAACACAAGACCCAGGTTGCATATAGAAGGTTCAGTGTCCCTGGTTTAGAAGGAGAGGTGGTGTGAGGCAAGCAAGAAGATGCCTCTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATGCCTCTGCTCCATACAGCAGGTCTGTACACAGGATCTGGCTCATGTGGTTTTAGTTAAGTTAGCCACAAATACAGGGTCTGCCCACATCTTTGCTTTGAACAGATGAGCCATGGTTGGCCAATTATCTGCCAACCAGATAATTTCTCAATATGCTCACACCAGATGCTTCCAGCTAGGGAGGGTATTAGGGGAAAGGGCTTGAGGGCCACAGTAAACTGGACAAGTTTTTCTGCCCAGCCTAGGCTGCCACCTGTAGGTCACTTGGGCTCCAGCTATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGACCGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTTGGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAGTATGGTAGACCACCAGGAATATGGTGTGGGGTGTCCTGATCCCCACAGTCACCCCAGGAGTCACCTGCAAGGGCTGTGGTAAGCTAAAGGGACAATTTGAGGAGAAGCAGTTTTCAGATGCTCCCAGGAAGAAGAGGGAGCTGTGGGAGTGCCTCACCTACCCCCAGCATCCTTTTCATCTCCCCACAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCCACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCCATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAATTTCCACCCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATA
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TACCTCACCACCCCAATCCTGGGCCCCCATTGGCTGCCTCCAGTCAGGTTACCTCAGGTTTAGGTTAAGGAGGAAGTAGGGTGGTCCCAGAAACCCCATCTATAGCCCCAGTGTCAGAAAAGGTAGAGAAAGAAAGAAAAGCAGTTGGTGGGTCCAAGTAAAGCCTTTTCCAGGAGATGAATAAAACGTATTCCCCAGACTGGAAGCCATACTCTACCCATTCTGATTCCTGGGCTCCCACCTCCTCTCCCCCTTCCCAGGAAATTGGGGATGTGGAGAACTGGGCTCGGAGCATCGAGCTGGACATGCGCACCATTGCCACTGCACTGGAATATGTCTACAAAGGGCAGCTGCAGTCTGCCCCTTCCTAGCCCCTGTTCCCTCCCCCAACCCTATCCCTCCTACCTCACCCGCAGGGGGAAGGAGGGAGGCTGACAAGCCTTGAATAAAACACAAGCCTCCGTTTCTCTGTGGTGTGTTTCAGAGAGCTACTAGCTCCAGTGTCGGGGGTGGGAGTGGAAGGTTCAAAGGTGGTTTCCCTGAGGGACAGGTACCTTTTGGGGAGAGGGTGGAACTAGCTTCCTCTTACTATCCCAACTCTCTTCTCCTCCATGGCCCTTGTGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCCCTCCTCCTTGGAGACCATGACATAGATGGTCAGGAACCCAGGCTGAGAAAGACAGCCAAGGGGTGGGGGGAGCCTAGGCAAATCTGGCCTCTGCCAAGTCCTGGCTTCAGCCAGGCAAGCTCCAGCCTCCCTGGCTCCTCCTCCTCCTCAGTCCTATCCCCACCCTGTCACACATACACTTAATACGCCTGGCATCCAAGTCCACCCACTCCGGACTTTGGCCTTAGCAGTAGTTAGTGTGGGAGGCTGGGAAGACTGGGAGCAGTCTCTTAAACAAAAGCAAAAGAATAAGCTTCGGGCGCTGTAGTACCTGCCAGCTTTCGCCACAGGAGGTAAGTGGATACTGGGAGCTGGGGGAACTGAGAAGACTAGCCAGATATTACATGTATTGCCAACTCAAAACTTTCAGCTTTTAACATGCTTCCTCACACATTATCCCCTTTGATCCTCCACAACTCTGAGGTGGACCTGGTGGGTCTTAGCCCCACTTGGTAGATGAGAAAATAGGTTGAGAGAGACAGTGAGATGCTCAGTATCACACAGCAAACCTCTTGGCCCTATACATCATTCCAAACACAAGACCCAGGTTGCATATAGAAGGTTCAGTGTCCCTGGTTTAGAAGGAGAGGTGGTGTGAGGCAAGCAAGAAGATGCCTCTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATGCCTCTGCTCCATACAGCAGGTCTGTACACAGGATCTGGCTCATGTGGTTTTAGTTAAGTTAGCCACAAATACAGGGTCTGCCCACATCTTTGCTTTGAACAGATGAGCCATGGTTGGCCAATTATCTGCCAACCAGATAATTTCTCAATATGCTCACACCAGATGCTTCCAGCTAGGGAGGGTATTAGGGGAAAGGGCTTGAGGGCCACAGTAAACTGGACAAGTTTTTCTGCCCAGCCTAGGCTGCCACCTGTAGGTCACTTGGGCTCCAGCTATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGACCGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCAGCTGTGACTCAGGCTTTGGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAGTATGGTAGACCACCAGGAATATGGTGTGGGGTGTCCTGATCCCCACAGTCACCCCAGGAGTCACCTGCAAGGGCTGTGGTAAGCTAAAGGGACAATTTGAGGAGAAGCAGTTTTCAGATGCTCCCAGGAAGAAGAGGGAGCTGTGGGAGTGCCTCACCTACCCCCAGCATCCTTTTCATCTCCCCACAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCCACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCCATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAATTTCCACCCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATA
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Task1_train_17963
|
This sequence variant lies in BLOC1S1-RDH5, RDH5 (BLOC1S1-RDH5 readthrough| retinol dehydrogenase 5) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Pigmentary retinal dystrophy
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GTGTGTTTCAGAGAGCTACTAGCTCCAGTGTCGGGGGTGGGAGTGGAAGGTTCAAAGGTGGTTTCCCTGAGGGACAGGTACCTTTTGGGGAGAGGGTGGAACTAGCTTCCTCTTACTATCCCAACTCTCTTCTCCTCCATGGCCCTTGTGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCCCTCCTCCTTGGAGACCATGACATAGATGGTCAGGAACCCAGGCTGAGAAAGACAGCCAAGGGGTGGGGGGAGCCTAGGCAAATCTGGCCTCTGCCAAGTCCTGGCTTCAGCCAGGCAAGCTCCAGCCTCCCTGGCTCCTCCTCCTCCTCAGTCCTATCCCCACCCTGTCACACATACACTTAATACGCCTGGCATCCAAGTCCACCCACTCCGGACTTTGGCCTTAGCAGTAGTTAGTGTGGGAGGCTGGGAAGACTGGGAGCAGTCTCTTAAACAAAAGCAAAAGAATAAGCTTCGGGCGCTGTAGTACCTGCCAGCTTTCGCCACAGGAGGTAAGTGGATACTGGGAGCTGGGGGAACTGAGAAGACTAGCCAGATATTACATGTATTGCCAACTCAAAACTTTCAGCTTTTAACATGCTTCCTCACACATTATCCCCTTTGATCCTCCACAACTCTGAGGTGGACCTGGTGGGTCTTAGCCCCACTTGGTAGATGAGAAAATAGGTTGAGAGAGACAGTGAGATGCTCAGTATCACACAGCAAACCTCTTGGCCCTATACATCATTCCAAACACAAGACCCAGGTTGCATATAGAAGGTTCAGTGTCCCTGGTTTAGAAGGAGAGGTGGTGTGAGGCAAGCAAGAAGATGCCTCTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATGCCTCTGCTCCATACAGCAGGTCTGTACACAGGATCTGGCTCATGTGGTTTTAGTTAAGTTAGCCACAAATACAGGGTCTGCCCACATCTTTGCTTTGAACAGATGAGCCATGGTTGGCCAATTATCTGCCAACCAGATAATTTCTCAATATGCTCACACCAGATGCTTCCAGCTAGGGAGGGTATTAGGGGAAAGGGCTTGAGGGCCACAGTAAACTGGACAAGTTTTTCTGCCCAGCCTAGGCTGCCACCTGTAGGTCACTTGGGCTCCAGCTATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGACCGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTTGGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAGTATGGTAGACCACCAGGAATATGGTGTGGGGTGTCCTGATCCCCACAGTCACCCCAGGAGTCACCTGCAAGGGCTGTGGTAAGCTAAAGGGACAATTTGAGGAGAAGCAGTTTTCAGATGCTCCCAGGAAGAAGAGGGAGCTGTGGGAGTGCCTCACCTACCCCCAGCATCCTTTTCATCTCCCCACAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCCACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCCATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAATTTCCACCCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTC
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GTGTGTTTCAGAGAGCTACTAGCTCCAGTGTCGGGGGTGGGAGTGGAAGGTTCAAAGGTGGTTTCCCTGAGGGACAGGTACCTTTTGGGGAGAGGGTGGAACTAGCTTCCTCTTACTATCCCAACTCTCTTCTCCTCCATGGCCCTTGTGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCCCTCCTCCTTGGAGACCATGACATAGATGGTCAGGAACCCAGGCTGAGAAAGACAGCCAAGGGGTGGGGGGAGCCTAGGCAAATCTGGCCTCTGCCAAGTCCTGGCTTCAGCCAGGCAAGCTCCAGCCTCCCTGGCTCCTCCTCCTCCTCAGTCCTATCCCCACCCTGTCACACATACACTTAATACGCCTGGCATCCAAGTCCACCCACTCCGGACTTTGGCCTTAGCAGTAGTTAGTGTGGGAGGCTGGGAAGACTGGGAGCAGTCTCTTAAACAAAAGCAAAAGAATAAGCTTCGGGCGCTGTAGTACCTGCCAGCTTTCGCCACAGGAGGTAAGTGGATACTGGGAGCTGGGGGAACTGAGAAGACTAGCCAGATATTACATGTATTGCCAACTCAAAACTTTCAGCTTTTAACATGCTTCCTCACACATTATCCCCTTTGATCCTCCACAACTCTGAGGTGGACCTGGTGGGTCTTAGCCCCACTTGGTAGATGAGAAAATAGGTTGAGAGAGACAGTGAGATGCTCAGTATCACACAGCAAACCTCTTGGCCCTATACATCATTCCAAACACAAGACCCAGGTTGCATATAGAAGGTTCAGTGTCCCTGGTTTAGAAGGAGAGGTGGTGTGAGGCAAGCAAGAAGATGCCTCTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATGCCTCTGCTCCATACAGCAGGTCTGTACACAGGATCTGGCTCATGTGGTTTTAGTTAAGTTAGCCACAAATACAGGGTCTGCCCACATCTTTGCTTTGAACAGATGAGCCATGGTTGGCCAATTATCTGCCAACCAGATAATTTCTCAATATGCTCACACCAGATGCTTCCAGCTAGGGAGGGTATTAGGGGAAAGGGCTTGAGGGCCACAGTAAACTGGACAAGTTTTTCTGCCCAGCCTAGGCTGCCACCTGTAGGTCACTTGGGCTCCAGCTATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGACCGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTTGGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAGTATGGTAGACCACCAGGAATATGGTGTGGGGTGTCCTGATCCCCACAGTCACCCCAGGAGTCACCTGCAAGGGCTGTGGTAAGCTAAAGGGACAATTTGAGGAGAAGCAGTTTTCAGATGCTCCCAGGAAGAAGAGGGAGCTGTGGGAGTGCCTCACCTACCCCCAGCATCCTTTTCATCTCCCCACAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCCACACCATGGCTGACCCGGGACAATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCCATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAATTTCCACCCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTC
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Task1_train_17964
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A variant found in Chromosome 12 affects BLOC1S1-RDH5, RDH5 (BLOC1S1-RDH5 readthrough| retinol dehydrogenase 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Pigmentary retinal dystrophy
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GGGAGAGGGTGGAACTAGCTTCCTCTTACTATCCCAACTCTCTTCTCCTCCATGGCCCTTGTGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCCCTCCTCCTTGGAGACCATGACATAGATGGTCAGGAACCCAGGCTGAGAAAGACAGCCAAGGGGTGGGGGGAGCCTAGGCAAATCTGGCCTCTGCCAAGTCCTGGCTTCAGCCAGGCAAGCTCCAGCCTCCCTGGCTCCTCCTCCTCCTCAGTCCTATCCCCACCCTGTCACACATACACTTAATACGCCTGGCATCCAAGTCCACCCACTCCGGACTTTGGCCTTAGCAGTAGTTAGTGTGGGAGGCTGGGAAGACTGGGAGCAGTCTCTTAAACAAAAGCAAAAGAATAAGCTTCGGGCGCTGTAGTACCTGCCAGCTTTCGCCACAGGAGGTAAGTGGATACTGGGAGCTGGGGGAACTGAGAAGACTAGCCAGATATTACATGTATTGCCAACTCAAAACTTTCAGCTTTTAACATGCTTCCTCACACATTATCCCCTTTGATCCTCCACAACTCTGAGGTGGACCTGGTGGGTCTTAGCCCCACTTGGTAGATGAGAAAATAGGTTGAGAGAGACAGTGAGATGCTCAGTATCACACAGCAAACCTCTTGGCCCTATACATCATTCCAAACACAAGACCCAGGTTGCATATAGAAGGTTCAGTGTCCCTGGTTTAGAAGGAGAGGTGGTGTGAGGCAAGCAAGAAGATGCCTCTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATGCCTCTGCTCCATACAGCAGGTCTGTACACAGGATCTGGCTCATGTGGTTTTAGTTAAGTTAGCCACAAATACAGGGTCTGCCCACATCTTTGCTTTGAACAGATGAGCCATGGTTGGCCAATTATCTGCCAACCAGATAATTTCTCAATATGCTCACACCAGATGCTTCCAGCTAGGGAGGGTATTAGGGGAAAGGGCTTGAGGGCCACAGTAAACTGGACAAGTTTTTCTGCCCAGCCTAGGCTGCCACCTGTAGGTCACTTGGGCTCCAGCTATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGACCGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTTGGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAGTATGGTAGACCACCAGGAATATGGTGTGGGGTGTCCTGATCCCCACAGTCACCCCAGGAGTCACCTGCAAGGGCTGTGGTAAGCTAAAGGGACAATTTGAGGAGAAGCAGTTTTCAGATGCTCCCAGGAAGAAGAGGGAGCTGTGGGAGTGCCTCACCTACCCCCAGCATCCTTTTCATCTCCCCACAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCCACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCCATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAATTTCCACCCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGT
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GGGAGAGGGTGGAACTAGCTTCCTCTTACTATCCCAACTCTCTTCTCCTCCATGGCCCTTGTGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCCCTCCTCCTTGGAGACCATGACATAGATGGTCAGGAACCCAGGCTGAGAAAGACAGCCAAGGGGTGGGGGGAGCCTAGGCAAATCTGGCCTCTGCCAAGTCCTGGCTTCAGCCAGGCAAGCTCCAGCCTCCCTGGCTCCTCCTCCTCCTCAGTCCTATCCCCACCCTGTCACACATACACTTAATACGCCTGGCATCCAAGTCCACCCACTCCGGACTTTGGCCTTAGCAGTAGTTAGTGTGGGAGGCTGGGAAGACTGGGAGCAGTCTCTTAAACAAAAGCAAAAGAATAAGCTTCGGGCGCTGTAGTACCTGCCAGCTTTCGCCACAGGAGGTAAGTGGATACTGGGAGCTGGGGGAACTGAGAAGACTAGCCAGATATTACATGTATTGCCAACTCAAAACTTTCAGCTTTTAACATGCTTCCTCACACATTATCCCCTTTGATCCTCCACAACTCTGAGGTGGACCTGGTGGGTCTTAGCCCCACTTGGTAGATGAGAAAATAGGTTGAGAGAGACAGTGAGATGCTCAGTATCACACAGCAAACCTCTTGGCCCTATACATCATTCCAAACACAAGACCCAGGTTGCATATAGAAGGTTCAGTGTCCCTGGTTTAGAAGGAGAGGTGGTGTGAGGCAAGCAAGAAGATGCCTCTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATGCCTCTGCTCCATACAGCAGGTCTGTACACAGGATCTGGCTCATGTGGTTTTAGTTAAGTTAGCCACAAATACAGGGTCTGCCCACATCTTTGCTTTGAACAGATGAGCCATGGTTGGCCAATTATCTGCCAACCAGATAATTTCTCAATATGCTCACACCAGATGCTTCCAGCTAGGGAGGGTATTAGGGGAAAGGGCTTGAGGGCCACAGTAAACTGGACAAGTTTTTCTGCCCAGCCTAGGCTGCCACCTGTAGGTCACTTGGGCTCCAGCTATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGACCGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTTGGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAGTATGGTAGACCACCAGGAATATGGTGTGGGGTGTCCTGATCCCCACAGTCACCCCAGGAGTCACCTGCAAGGGCTGTGGTAAGCTAAAGGGACAATTTGAGGAGAAGCAGTTTTCAGATGCTCCCAGGAAGAAGAGGGAGCTGTGGGAGTGCCTCACCTACCCCCAGCATCCTTTTCATCTCCCCACAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCCACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCCATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCTGGGTGATCAACATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAATTTCCACCCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGT
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Task1_train_17965
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Given this context: Chromosome 12, gene BLOC1S1-RDH5, RDH5 (BLOC1S1-RDH5 readthrough| retinol dehydrogenase 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Fundus albipunctatus, autosomal recessive
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TGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCCCTCCTCCTTGGAGACCATGACATAGATGGTCAGGAACCCAGGCTGAGAAAGACAGCCAAGGGGTGGGGGGAGCCTAGGCAAATCTGGCCTCTGCCAAGTCCTGGCTTCAGCCAGGCAAGCTCCAGCCTCCCTGGCTCCTCCTCCTCCTCAGTCCTATCCCCACCCTGTCACACATACACTTAATACGCCTGGCATCCAAGTCCACCCACTCCGGACTTTGGCCTTAGCAGTAGTTAGTGTGGGAGGCTGGGAAGACTGGGAGCAGTCTCTTAAACAAAAGCAAAAGAATAAGCTTCGGGCGCTGTAGTACCTGCCAGCTTTCGCCACAGGAGGTAAGTGGATACTGGGAGCTGGGGGAACTGAGAAGACTAGCCAGATATTACATGTATTGCCAACTCAAAACTTTCAGCTTTTAACATGCTTCCTCACACATTATCCCCTTTGATCCTCCACAACTCTGAGGTGGACCTGGTGGGTCTTAGCCCCACTTGGTAGATGAGAAAATAGGTTGAGAGAGACAGTGAGATGCTCAGTATCACACAGCAAACCTCTTGGCCCTATACATCATTCCAAACACAAGACCCAGGTTGCATATAGAAGGTTCAGTGTCCCTGGTTTAGAAGGAGAGGTGGTGTGAGGCAAGCAAGAAGATGCCTCTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATGCCTCTGCTCCATACAGCAGGTCTGTACACAGGATCTGGCTCATGTGGTTTTAGTTAAGTTAGCCACAAATACAGGGTCTGCCCACATCTTTGCTTTGAACAGATGAGCCATGGTTGGCCAATTATCTGCCAACCAGATAATTTCTCAATATGCTCACACCAGATGCTTCCAGCTAGGGAGGGTATTAGGGGAAAGGGCTTGAGGGCCACAGTAAACTGGACAAGTTTTTCTGCCCAGCCTAGGCTGCCACCTGTAGGTCACTTGGGCTCCAGCTATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGACCGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTTGGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAGTATGGTAGACCACCAGGAATATGGTGTGGGGTGTCCTGATCCCCACAGTCACCCCAGGAGTCACCTGCAAGGGCTGTGGTAAGCTAAAGGGACAATTTGAGGAGAAGCAGTTTTCAGATGCTCCCAGGAAGAAGAGGGAGCTGTGGGAGTGCCTCACCTACCCCCAGCATCCTTTTCATCTCCCCACAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCCACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCCATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAATTTCCACCCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACC
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TGCAGGTGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCCCTCCTCCTTGGAGACCATGACATAGATGGTCAGGAACCCAGGCTGAGAAAGACAGCCAAGGGGTGGGGGGAGCCTAGGCAAATCTGGCCTCTGCCAAGTCCTGGCTTCAGCCAGGCAAGCTCCAGCCTCCCTGGCTCCTCCTCCTCCTCAGTCCTATCCCCACCCTGTCACACATACACTTAATACGCCTGGCATCCAAGTCCACCCACTCCGGACTTTGGCCTTAGCAGTAGTTAGTGTGGGAGGCTGGGAAGACTGGGAGCAGTCTCTTAAACAAAAGCAAAAGAATAAGCTTCGGGCGCTGTAGTACCTGCCAGCTTTCGCCACAGGAGGTAAGTGGATACTGGGAGCTGGGGGAACTGAGAAGACTAGCCAGATATTACATGTATTGCCAACTCAAAACTTTCAGCTTTTAACATGCTTCCTCACACATTATCCCCTTTGATCCTCCACAACTCTGAGGTGGACCTGGTGGGTCTTAGCCCCACTTGGTAGATGAGAAAATAGGTTGAGAGAGACAGTGAGATGCTCAGTATCACACAGCAAACCTCTTGGCCCTATACATCATTCCAAACACAAGACCCAGGTTGCATATAGAAGGTTCAGTGTCCCTGGTTTAGAAGGAGAGGTGGTGTGAGGCAAGCAAGAAGATGCCTCTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATGCCTCTGCTCCATACAGCAGGTCTGTACACAGGATCTGGCTCATGTGGTTTTAGTTAAGTTAGCCACAAATACAGGGTCTGCCCACATCTTTGCTTTGAACAGATGAGCCATGGTTGGCCAATTATCTGCCAACCAGATAATTTCTCAATATGCTCACACCAGATGCTTCCAGCTAGGGAGGGTATTAGGGGAAAGGGCTTGAGGGCCACAGTAAACTGGACAAGTTTTTCTGCCCAGCCTAGGCTGCCACCTGTAGGTCACTTGGGCTCCAGCTATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGACCGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTTGGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAGTATGGTAGACCACCAGGAATATGGTGTGGGGTGTCCTGATCCCCACAGTCACCCCAGGAGTCACCTGCAAGGGCTGTGGTAAGCTAAAGGGACAATTTGAGGAGAAGCAGTTTTCAGATGCTCCCAGGAAGAAGAGGGAGCTGTGGGAGTGCCTCACCTACCCCCAGCATCCTTTTCATCTCCCCACAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCCACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCCATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGGCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAATTTCCACCCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACC
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Task1_train_17966
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The variant affects gene BLOC1S1-RDH5, RDH5 (BLOC1S1-RDH5 readthrough| retinol dehydrogenase 5), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Pigmentary retinal dystrophy
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TGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCCCTCCTCCTTGGAGACCATGACATAGATGGTCAGGAACCCAGGCTGAGAAAGACAGCCAAGGGGTGGGGGGAGCCTAGGCAAATCTGGCCTCTGCCAAGTCCTGGCTTCAGCCAGGCAAGCTCCAGCCTCCCTGGCTCCTCCTCCTCCTCAGTCCTATCCCCACCCTGTCACACATACACTTAATACGCCTGGCATCCAAGTCCACCCACTCCGGACTTTGGCCTTAGCAGTAGTTAGTGTGGGAGGCTGGGAAGACTGGGAGCAGTCTCTTAAACAAAAGCAAAAGAATAAGCTTCGGGCGCTGTAGTACCTGCCAGCTTTCGCCACAGGAGGTAAGTGGATACTGGGAGCTGGGGGAACTGAGAAGACTAGCCAGATATTACATGTATTGCCAACTCAAAACTTTCAGCTTTTAACATGCTTCCTCACACATTATCCCCTTTGATCCTCCACAACTCTGAGGTGGACCTGGTGGGTCTTAGCCCCACTTGGTAGATGAGAAAATAGGTTGAGAGAGACAGTGAGATGCTCAGTATCACACAGCAAACCTCTTGGCCCTATACATCATTCCAAACACAAGACCCAGGTTGCATATAGAAGGTTCAGTGTCCCTGGTTTAGAAGGAGAGGTGGTGTGAGGCAAGCAAGAAGATGCCTCTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATGCCTCTGCTCCATACAGCAGGTCTGTACACAGGATCTGGCTCATGTGGTTTTAGTTAAGTTAGCCACAAATACAGGGTCTGCCCACATCTTTGCTTTGAACAGATGAGCCATGGTTGGCCAATTATCTGCCAACCAGATAATTTCTCAATATGCTCACACCAGATGCTTCCAGCTAGGGAGGGTATTAGGGGAAAGGGCTTGAGGGCCACAGTAAACTGGACAAGTTTTTCTGCCCAGCCTAGGCTGCCACCTGTAGGTCACTTGGGCTCCAGCTATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGACCGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTTGGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAGTATGGTAGACCACCAGGAATATGGTGTGGGGTGTCCTGATCCCCACAGTCACCCCAGGAGTCACCTGCAAGGGCTGTGGTAAGCTAAAGGGACAATTTGAGGAGAAGCAGTTTTCAGATGCTCCCAGGAAGAAGAGGGAGCTGTGGGAGTGCCTCACCTACCCCCAGCATCCTTTTCATCTCCCCACAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCCACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCCATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAAATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAATTTCCACCCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTG
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TGTCTGTTAGGCAAGCAGAGGGTGGGAGTTCCCATCCCTCCTGAGAGAAGGTCCTAGTAGCCCTGCCCCAAGCTTCCTAATTCAGGACTTGTTTCCTACAGAAGAGAAACAAGGCAAGGTACAGGCCTGGTCCCCAGCTCTGGCTTTCTGCCTCTCCACGTGCTCATGGCCTCTCCCAGGCTAACTCTAAGCAGTGTCATGAGTCTGAGCCAGGTGGGAGATTAATTCCTGGGGGCACTTCAGGGCTGAGAAGGGGGAGGAATGACAGGTCCAGTAACCGTTACCAACAGAGCAGTGCAGCTGCCATCCTTGACAGCTCCCTCCTCCTTGGAGACCATGACATAGATGGTCAGGAACCCAGGCTGAGAAAGACAGCCAAGGGGTGGGGGGAGCCTAGGCAAATCTGGCCTCTGCCAAGTCCTGGCTTCAGCCAGGCAAGCTCCAGCCTCCCTGGCTCCTCCTCCTCCTCAGTCCTATCCCCACCCTGTCACACATACACTTAATACGCCTGGCATCCAAGTCCACCCACTCCGGACTTTGGCCTTAGCAGTAGTTAGTGTGGGAGGCTGGGAAGACTGGGAGCAGTCTCTTAAACAAAAGCAAAAGAATAAGCTTCGGGCGCTGTAGTACCTGCCAGCTTTCGCCACAGGAGGTAAGTGGATACTGGGAGCTGGGGGAACTGAGAAGACTAGCCAGATATTACATGTATTGCCAACTCAAAACTTTCAGCTTTTAACATGCTTCCTCACACATTATCCCCTTTGATCCTCCACAACTCTGAGGTGGACCTGGTGGGTCTTAGCCCCACTTGGTAGATGAGAAAATAGGTTGAGAGAGACAGTGAGATGCTCAGTATCACACAGCAAACCTCTTGGCCCTATACATCATTCCAAACACAAGACCCAGGTTGCATATAGAAGGTTCAGTGTCCCTGGTTTAGAAGGAGAGGTGGTGTGAGGCAAGCAAGAAGATGCCTCTGCTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATGCCTCTGCTCCATACAGCAGGTCTGTACACAGGATCTGGCTCATGTGGTTTTAGTTAAGTTAGCCACAAATACAGGGTCTGCCCACATCTTTGCTTTGAACAGATGAGCCATGGTTGGCCAATTATCTGCCAACCAGATAATTTCTCAATATGCTCACACCAGATGCTTCCAGCTAGGGAGGGTATTAGGGGAAAGGGCTTGAGGGCCACAGTAAACTGGACAAGTTTTTCTGCCCAGCCTAGGCTGCCACCTGTAGGTCACTTGGGCTCCAGCTATGTGGCTGCCTCTTCTGCTGGGTGCCTTACTCTGGGCAGTGCTGTGGTTGCTCAGGGACCGGCAGAGCCTGCCCGCCAGCAATGCCTTTGTCTTCATCACCGGCTGTGACTCAGGCTTTGGGCGCCTTCTGGCACTGCAGCTGGACCAGAGAGGCTTCCGAGTCCTGGCCAGCTGCCTGACCCCCTCCGGGGCCGAGGACCTGCAGCGGGTGGCCTCCTCCCGCCTCCACACCACCCTGTTGGATATCACTGATCCCCAGAGCGTCCAGCAGGCAGCCAAGTGGGTGGAGATGCACGTTAAGGAAGCAGGTAAGTATGGTAGACCACCAGGAATATGGTGTGGGGTGTCCTGATCCCCACAGTCACCCCAGGAGTCACCTGCAAGGGCTGTGGTAAGCTAAAGGGACAATTTGAGGAGAAGCAGTTTTCAGATGCTCCCAGGAAGAAGAGGGAGCTGTGGGAGTGCCTCACCTACCCCCAGCATCCTTTTCATCTCCCCACAGGGCTTTTTGGTCTGGTGAATAATGCTGGTGTGGCTGGTATCATCGGACCCACACCATGGCTGACCCGGGACGATTTCCAGCGGGTGCTGAATGTGAACACAATGGGTCCCATCGGGGTCACCCTTGCCCTGCTGCCTCTGCTGCAGCAAGCCCGGGGCCGGGTGATCAACATCACCAGCGTCCTGGGTCGCCTGGCAGCCAATGGTGGGGGCTACTGTGTCTCCAGATTTGGCCTGGAGGCCTTCTCTGACAGCCTGAGGTGAGGGGTACAGGGCTCTGGGTTCCAGGACTAACAGCAGCCCACTCAACAAACGTGGGCCAGCAGAGGTGGTTAAGATACAGCACATTGGAATAGTTAAGAAGAGACAGTTTAGGGCTAGACTTCATGGGTTCAATGAAGTCTACCCTTATGTAAGCTTTGTGACCATAAGTAGATTACTTCTCTTTACCCATTTTTAACGTGTTTGTTTTTTGTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACCACAATTTCCACCCCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTG
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Task1_train_17967
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This alteration in BLOC1S1-RDH5, CD63, RDH5 (BLOC1S1-RDH5 readthrough| CD63 molecule| retinol dehydrogenase 5) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Pigmentary retinal dystrophy
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ACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTGGAGAGTCTGGAGAAAACCCTGCAGGCCTGCTGGGCACGGCTGCCTCCTGCCACACAGGCCCACTATGGGGGGGCCTTCCTCACCAAGTGTGAGTAGCCAGGCCCACACAGGGGCACATGAAGGGAAACAAGTACCAGAAAGGCCAGTCCTGCATAAGCCTGCTAGGAGGTGGGTGGGGCACCCAGGGCAGGGTTGAGGGTGAACAGGATGTTACAAGAGTGCCCAGGCCATGTGGAACCTGCCCACTCCCCACACTGAGGAGGGGACTGAGGGTGACAAGCCCAGGGCCCCAGAAGACAGTACCTAAGATGGGCTGGAGTGAGGAAGGGAAACTGATTGCAACCACCTATGGGGCTGCAGACCTGAAAATGCAACAGCGCATCATGAACCTGATCTGTGACCCGGACCTAACCAAGGTGAGCCGATGCCTGGAGCATGCCCTGACTGCTCGACACCCCCGAACCCGCTACAGCCCAGGTTGGGATGCCAAGCTGCTCTGGCTGCCTGCCTCCTACCTGCCAGCCAGCCTGGTGGATGCTGTGCTCACCTGGGTCCTTCCCAAGCCTGCCCAAGCAGTCTACTGAATCCAGCCTTCCAGCAAGAGATTGTTTTTCAAGGACAAGGACTTTGATTTATTTCTGCCCCCACCCTGGTACTGCCTGGTGCCTGCCACAAAATAAGCACTAACAAAAGTGTATTGTTTAAAAAATAAAAAGAAGGTGGGCAGAAATGTGCCCAGTGGAAGGCTGACCCCATTTAAGTGCCAACTACTCCAAACCGACATGCTCACGGTCTCTGGCCTGTTCAGTCCCTGCAAAACAGCTAGCACCCACAGTGGGGCGCCAGGGAACTGCCTCACATCTACAGCTGCACGTCGGGGAGTGGCCATCAAAGGGCACTTTAATACATTTCCCTTATTTTCTGAAGGGGAGTAAGGTTGCAATTCAGTGTCTGTACTGGGAATGGTCTTCATATTTCTTGGGGGAGAAGAGCAGGTGATGAGGGTTCTGGGCCAGGCTGGGTGGCTTCCATGGAAGAAAAGGCAATATTCACATAAATTCTCCTGCTAAGGACACTGACCACACAGGTGTCAAGGCAACTTATCATACTTCGAAAGGAGCTGGATCCCTTGAGGATTGGCCAGGAAGGGAGGTGCTGGGCCCTTAGCGGTGCACAGAAGGCCAGGAAGATGTCCAAGGCAGATGGGGGCTGGGCTCTCGCAGGTGGGACCTTTCTGGGGAGCTGCTTTGACTTATGCAGCAGATGGCTTCATGAATGTTCATAGTGAGCCTGGCAGCATAAGACTAGGGGGCAGAAAGCACCACAGTCTCTGGATCCTCACTTCTCCCACTGCCTGCCCAACCAACACCTTCGCAAAGTCCTCCTTTCCCAAACACCCCCCAAAATAGACCTCGAAGTACACATGCATTAAGGTCCCAGAGGACAGGGAACATCAGTAAGGAAAGGAAGGAATCAAGCATCACTCTAAGACAAACTCAGACCATCTCTTTTCGGTCTGAAAAAATAATCCGTTTAATTGAAAAACCTGGAGGATACTATTCCACTCCCCCAGATGAGGAGGCTGAGGAGACCAGACCCCTACATCACCTCGTAGCCACTTCTGATACTCTTCACGAGGCAGCAGGCAAAGACAATTCCCAAAACCTAGAAGGAAAGATGGGGACAGGGGTGGAGAGGAGTCAGAAGGGCTAGCTACCTCAGACCCATGCAAGAGACTCCAAACACACACTCCCAGGCCAGTACCTCCTGTTCAGCACCCTCCTCCCCTCAGCCCCTTCCCTCCAGGCACCCTGGACAGAGTCCCAGCCCCTGCTCAGGGTTATCTCTTACCTCGACAAAAGCAATTCCAAGGGCTGCTGCAGCTACCACCAGCACATTTTTCCTCAGCCAGCCCCCAATCTTCTCCACACAGCCCTGAAGGTGGCAGGCACAAAGGACAAAAGCACCATCAGAAACTTCCCACCCCAACCCCCTCCCTTGGTCCATCAGTCTCTTCCCTGCCCCTGTACCTTTCACCCCACCCTTAGCATTTCCAGATCCCCTCCCCATCCCTGACCCTGTCCACCTCCATCCTGGGTCTCTTGCATTCTAAAACATTTCCCAGGTTTCCCAAGTCCCATACACAGTCTCCTCCCTACCTCCTTATGGATCGCCTTCTCGTTGAAATTAATCCCACAGCCCACAGTAACATTAATGCAGCAGGAGTCGGGGACTCGGTTCTTCGACATGGAAGGGATTTTCTCCCAATCTGTGTAGTTAGCAGCCCCACAGCACTTAAACTGGGGGAGGGAAGAAATATGGAGAAGAAGGTTGTTAAGTGAACCTTCACCTTCAATATGGAGATGAGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGACTTGCTCTGTTGCCCAGACAAGTGCCCAGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCCTCCTGAGTA
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ACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTGGAGAGTCTGGAGAAAACCCTGCAGGCCTGCTGGGCACGGCTGCCTCCTGCCACACAGGCCCACTATGGGGGGGCCTTCCTCACCAAGTGTGAGTAGCCAGGCCCACACAGGGGCACATGAAGGGAAACAAGTACCAGAAAGGCCAGTCCTGCATAAGCCTGCTAGGAGGTGGGTGGGGCACCCAGGGCAGGGTTGAGGGTGAACAGGATGTTACAAGAGTGCCCAGGCCATGTGGAACCTGCCCACTCCCCACACTGAGGAGGGGACTGAGGGTGACAAGCCCAGGGCCCCAGAAGACAGTACCTAAGATGGGCTGGAGTGAGGAAGGGAAACTGATTGCAACCACCTATGGGGCTGCAGACCTGAAAATGCAACAGCGCATCATGAACCTGATCTGTGACCCGGACCTAACCAAGGTGAGCCGATGCCTGGAGCATGCCCTGACTGCTCGACACCCCCGAACCCACTACAGCCCAGGTTGGGATGCCAAGCTGCTCTGGCTGCCTGCCTCCTACCTGCCAGCCAGCCTGGTGGATGCTGTGCTCACCTGGGTCCTTCCCAAGCCTGCCCAAGCAGTCTACTGAATCCAGCCTTCCAGCAAGAGATTGTTTTTCAAGGACAAGGACTTTGATTTATTTCTGCCCCCACCCTGGTACTGCCTGGTGCCTGCCACAAAATAAGCACTAACAAAAGTGTATTGTTTAAAAAATAAAAAGAAGGTGGGCAGAAATGTGCCCAGTGGAAGGCTGACCCCATTTAAGTGCCAACTACTCCAAACCGACATGCTCACGGTCTCTGGCCTGTTCAGTCCCTGCAAAACAGCTAGCACCCACAGTGGGGCGCCAGGGAACTGCCTCACATCTACAGCTGCACGTCGGGGAGTGGCCATCAAAGGGCACTTTAATACATTTCCCTTATTTTCTGAAGGGGAGTAAGGTTGCAATTCAGTGTCTGTACTGGGAATGGTCTTCATATTTCTTGGGGGAGAAGAGCAGGTGATGAGGGTTCTGGGCCAGGCTGGGTGGCTTCCATGGAAGAAAAGGCAATATTCACATAAATTCTCCTGCTAAGGACACTGACCACACAGGTGTCAAGGCAACTTATCATACTTCGAAAGGAGCTGGATCCCTTGAGGATTGGCCAGGAAGGGAGGTGCTGGGCCCTTAGCGGTGCACAGAAGGCCAGGAAGATGTCCAAGGCAGATGGGGGCTGGGCTCTCGCAGGTGGGACCTTTCTGGGGAGCTGCTTTGACTTATGCAGCAGATGGCTTCATGAATGTTCATAGTGAGCCTGGCAGCATAAGACTAGGGGGCAGAAAGCACCACAGTCTCTGGATCCTCACTTCTCCCACTGCCTGCCCAACCAACACCTTCGCAAAGTCCTCCTTTCCCAAACACCCCCCAAAATAGACCTCGAAGTACACATGCATTAAGGTCCCAGAGGACAGGGAACATCAGTAAGGAAAGGAAGGAATCAAGCATCACTCTAAGACAAACTCAGACCATCTCTTTTCGGTCTGAAAAAATAATCCGTTTAATTGAAAAACCTGGAGGATACTATTCCACTCCCCCAGATGAGGAGGCTGAGGAGACCAGACCCCTACATCACCTCGTAGCCACTTCTGATACTCTTCACGAGGCAGCAGGCAAAGACAATTCCCAAAACCTAGAAGGAAAGATGGGGACAGGGGTGGAGAGGAGTCAGAAGGGCTAGCTACCTCAGACCCATGCAAGAGACTCCAAACACACACTCCCAGGCCAGTACCTCCTGTTCAGCACCCTCCTCCCCTCAGCCCCTTCCCTCCAGGCACCCTGGACAGAGTCCCAGCCCCTGCTCAGGGTTATCTCTTACCTCGACAAAAGCAATTCCAAGGGCTGCTGCAGCTACCACCAGCACATTTTTCCTCAGCCAGCCCCCAATCTTCTCCACACAGCCCTGAAGGTGGCAGGCACAAAGGACAAAAGCACCATCAGAAACTTCCCACCCCAACCCCCTCCCTTGGTCCATCAGTCTCTTCCCTGCCCCTGTACCTTTCACCCCACCCTTAGCATTTCCAGATCCCCTCCCCATCCCTGACCCTGTCCACCTCCATCCTGGGTCTCTTGCATTCTAAAACATTTCCCAGGTTTCCCAAGTCCCATACACAGTCTCCTCCCTACCTCCTTATGGATCGCCTTCTCGTTGAAATTAATCCCACAGCCCACAGTAACATTAATGCAGCAGGAGTCGGGGACTCGGTTCTTCGACATGGAAGGGATTTTCTCCCAATCTGTGTAGTTAGCAGCCCCACAGCACTTAAACTGGGGGAGGGAAGAAATATGGAGAAGAAGGTTGTTAAGTGAACCTTCACCTTCAATATGGAGATGAGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGACTTGCTCTGTTGCCCAGACAAGTGCCCAGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCCTCCTGAGTA
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Task1_train_17968
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A mutation on Chromosome 12 affecting BLOC1S1-RDH5, CD63, RDH5 (BLOC1S1-RDH5 readthrough| CD63 molecule| retinol dehydrogenase 5) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Congenital stationary night blindness
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ACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTGGAGAGTCTGGAGAAAACCCTGCAGGCCTGCTGGGCACGGCTGCCTCCTGCCACACAGGCCCACTATGGGGGGGCCTTCCTCACCAAGTGTGAGTAGCCAGGCCCACACAGGGGCACATGAAGGGAAACAAGTACCAGAAAGGCCAGTCCTGCATAAGCCTGCTAGGAGGTGGGTGGGGCACCCAGGGCAGGGTTGAGGGTGAACAGGATGTTACAAGAGTGCCCAGGCCATGTGGAACCTGCCCACTCCCCACACTGAGGAGGGGACTGAGGGTGACAAGCCCAGGGCCCCAGAAGACAGTACCTAAGATGGGCTGGAGTGAGGAAGGGAAACTGATTGCAACCACCTATGGGGCTGCAGACCTGAAAATGCAACAGCGCATCATGAACCTGATCTGTGACCCGGACCTAACCAAGGTGAGCCGATGCCTGGAGCATGCCCTGACTGCTCGACACCCCCGAACCCGCTACAGCCCAGGTTGGGATGCCAAGCTGCTCTGGCTGCCTGCCTCCTACCTGCCAGCCAGCCTGGTGGATGCTGTGCTCACCTGGGTCCTTCCCAAGCCTGCCCAAGCAGTCTACTGAATCCAGCCTTCCAGCAAGAGATTGTTTTTCAAGGACAAGGACTTTGATTTATTTCTGCCCCCACCCTGGTACTGCCTGGTGCCTGCCACAAAATAAGCACTAACAAAAGTGTATTGTTTAAAAAATAAAAAGAAGGTGGGCAGAAATGTGCCCAGTGGAAGGCTGACCCCATTTAAGTGCCAACTACTCCAAACCGACATGCTCACGGTCTCTGGCCTGTTCAGTCCCTGCAAAACAGCTAGCACCCACAGTGGGGCGCCAGGGAACTGCCTCACATCTACAGCTGCACGTCGGGGAGTGGCCATCAAAGGGCACTTTAATACATTTCCCTTATTTTCTGAAGGGGAGTAAGGTTGCAATTCAGTGTCTGTACTGGGAATGGTCTTCATATTTCTTGGGGGAGAAGAGCAGGTGATGAGGGTTCTGGGCCAGGCTGGGTGGCTTCCATGGAAGAAAAGGCAATATTCACATAAATTCTCCTGCTAAGGACACTGACCACACAGGTGTCAAGGCAACTTATCATACTTCGAAAGGAGCTGGATCCCTTGAGGATTGGCCAGGAAGGGAGGTGCTGGGCCCTTAGCGGTGCACAGAAGGCCAGGAAGATGTCCAAGGCAGATGGGGGCTGGGCTCTCGCAGGTGGGACCTTTCTGGGGAGCTGCTTTGACTTATGCAGCAGATGGCTTCATGAATGTTCATAGTGAGCCTGGCAGCATAAGACTAGGGGGCAGAAAGCACCACAGTCTCTGGATCCTCACTTCTCCCACTGCCTGCCCAACCAACACCTTCGCAAAGTCCTCCTTTCCCAAACACCCCCCAAAATAGACCTCGAAGTACACATGCATTAAGGTCCCAGAGGACAGGGAACATCAGTAAGGAAAGGAAGGAATCAAGCATCACTCTAAGACAAACTCAGACCATCTCTTTTCGGTCTGAAAAAATAATCCGTTTAATTGAAAAACCTGGAGGATACTATTCCACTCCCCCAGATGAGGAGGCTGAGGAGACCAGACCCCTACATCACCTCGTAGCCACTTCTGATACTCTTCACGAGGCAGCAGGCAAAGACAATTCCCAAAACCTAGAAGGAAAGATGGGGACAGGGGTGGAGAGGAGTCAGAAGGGCTAGCTACCTCAGACCCATGCAAGAGACTCCAAACACACACTCCCAGGCCAGTACCTCCTGTTCAGCACCCTCCTCCCCTCAGCCCCTTCCCTCCAGGCACCCTGGACAGAGTCCCAGCCCCTGCTCAGGGTTATCTCTTACCTCGACAAAAGCAATTCCAAGGGCTGCTGCAGCTACCACCAGCACATTTTTCCTCAGCCAGCCCCCAATCTTCTCCACACAGCCCTGAAGGTGGCAGGCACAAAGGACAAAAGCACCATCAGAAACTTCCCACCCCAACCCCCTCCCTTGGTCCATCAGTCTCTTCCCTGCCCCTGTACCTTTCACCCCACCCTTAGCATTTCCAGATCCCCTCCCCATCCCTGACCCTGTCCACCTCCATCCTGGGTCTCTTGCATTCTAAAACATTTCCCAGGTTTCCCAAGTCCCATACACAGTCTCCTCCCTACCTCCTTATGGATCGCCTTCTCGTTGAAATTAATCCCACAGCCCACAGTAACATTAATGCAGCAGGAGTCGGGGACTCGGTTCTTCGACATGGAAGGGATTTTCTCCCAATCTGTGTAGTTAGCAGCCCCACAGCACTTAAACTGGGGGAGGGAAGAAATATGGAGAAGAAGGTTGTTAAGTGAACCTTCACCTTCAATATGGAGATGAGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGACTTGCTCTGTTGCCCAGACAAGTGCCCAGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCCTCCTGAGTA
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ACCTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTGGAGAGTCTGGAGAAAACCCTGCAGGCCTGCTGGGCACGGCTGCCTCCTGCCACACAGGCCCACTATGGGGGGGCCTTCCTCACCAAGTGTGAGTAGCCAGGCCCACACAGGGGCACATGAAGGGAAACAAGTACCAGAAAGGCCAGTCCTGCATAAGCCTGCTAGGAGGTGGGTGGGGCACCCAGGGCAGGGTTGAGGGTGAACAGGATGTTACAAGAGTGCCCAGGCCATGTGGAACCTGCCCACTCCCCACACTGAGGAGGGGACTGAGGGTGACAAGCCCAGGGCCCCAGAAGACAGTACCTAAGATGGGCTGGAGTGAGGAAGGGAAACTGATTGCAACCACCTATGGGGCTGCAGACCTGAAAATGCAACAGCGCATCATGAACCTGATCTGTGACCCGGACCTAACCAAGGTGAGCCGATGCCTGGAGCATGCCCTGACTGCTCGACACCCCCGAACCCACTACAGCCCAGGTTGGGATGCCAAGCTGCTCTGGCTGCCTGCCTCCTACCTGCCAGCCAGCCTGGTGGATGCTGTGCTCACCTGGGTCCTTCCCAAGCCTGCCCAAGCAGTCTACTGAATCCAGCCTTCCAGCAAGAGATTGTTTTTCAAGGACAAGGACTTTGATTTATTTCTGCCCCCACCCTGGTACTGCCTGGTGCCTGCCACAAAATAAGCACTAACAAAAGTGTATTGTTTAAAAAATAAAAAGAAGGTGGGCAGAAATGTGCCCAGTGGAAGGCTGACCCCATTTAAGTGCCAACTACTCCAAACCGACATGCTCACGGTCTCTGGCCTGTTCAGTCCCTGCAAAACAGCTAGCACCCACAGTGGGGCGCCAGGGAACTGCCTCACATCTACAGCTGCACGTCGGGGAGTGGCCATCAAAGGGCACTTTAATACATTTCCCTTATTTTCTGAAGGGGAGTAAGGTTGCAATTCAGTGTCTGTACTGGGAATGGTCTTCATATTTCTTGGGGGAGAAGAGCAGGTGATGAGGGTTCTGGGCCAGGCTGGGTGGCTTCCATGGAAGAAAAGGCAATATTCACATAAATTCTCCTGCTAAGGACACTGACCACACAGGTGTCAAGGCAACTTATCATACTTCGAAAGGAGCTGGATCCCTTGAGGATTGGCCAGGAAGGGAGGTGCTGGGCCCTTAGCGGTGCACAGAAGGCCAGGAAGATGTCCAAGGCAGATGGGGGCTGGGCTCTCGCAGGTGGGACCTTTCTGGGGAGCTGCTTTGACTTATGCAGCAGATGGCTTCATGAATGTTCATAGTGAGCCTGGCAGCATAAGACTAGGGGGCAGAAAGCACCACAGTCTCTGGATCCTCACTTCTCCCACTGCCTGCCCAACCAACACCTTCGCAAAGTCCTCCTTTCCCAAACACCCCCCAAAATAGACCTCGAAGTACACATGCATTAAGGTCCCAGAGGACAGGGAACATCAGTAAGGAAAGGAAGGAATCAAGCATCACTCTAAGACAAACTCAGACCATCTCTTTTCGGTCTGAAAAAATAATCCGTTTAATTGAAAAACCTGGAGGATACTATTCCACTCCCCCAGATGAGGAGGCTGAGGAGACCAGACCCCTACATCACCTCGTAGCCACTTCTGATACTCTTCACGAGGCAGCAGGCAAAGACAATTCCCAAAACCTAGAAGGAAAGATGGGGACAGGGGTGGAGAGGAGTCAGAAGGGCTAGCTACCTCAGACCCATGCAAGAGACTCCAAACACACACTCCCAGGCCAGTACCTCCTGTTCAGCACCCTCCTCCCCTCAGCCCCTTCCCTCCAGGCACCCTGGACAGAGTCCCAGCCCCTGCTCAGGGTTATCTCTTACCTCGACAAAAGCAATTCCAAGGGCTGCTGCAGCTACCACCAGCACATTTTTCCTCAGCCAGCCCCCAATCTTCTCCACACAGCCCTGAAGGTGGCAGGCACAAAGGACAAAAGCACCATCAGAAACTTCCCACCCCAACCCCCTCCCTTGGTCCATCAGTCTCTTCCCTGCCCCTGTACCTTTCACCCCACCCTTAGCATTTCCAGATCCCCTCCCCATCCCTGACCCTGTCCACCTCCATCCTGGGTCTCTTGCATTCTAAAACATTTCCCAGGTTTCCCAAGTCCCATACACAGTCTCCTCCCTACCTCCTTATGGATCGCCTTCTCGTTGAAATTAATCCCACAGCCCACAGTAACATTAATGCAGCAGGAGTCGGGGACTCGGTTCTTCGACATGGAAGGGATTTTCTCCCAATCTGTGTAGTTAGCAGCCCCACAGCACTTAAACTGGGGGAGGGAAGAAATATGGAGAAGAAGGTTGTTAAGTGAACCTTCACCTTCAATATGGAGATGAGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGACTTGCTCTGTTGCCCAGACAAGTGCCCAGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCCTCCTGAGTA
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Task1_train_17969
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A mutation on Chromosome 12 affecting BLOC1S1-RDH5, CD63, RDH5 (BLOC1S1-RDH5 readthrough| CD63 molecule| retinol dehydrogenase 5) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Fundus albipunctatus, autosomal recessive
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CTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTGGAGAGTCTGGAGAAAACCCTGCAGGCCTGCTGGGCACGGCTGCCTCCTGCCACACAGGCCCACTATGGGGGGGCCTTCCTCACCAAGTGTGAGTAGCCAGGCCCACACAGGGGCACATGAAGGGAAACAAGTACCAGAAAGGCCAGTCCTGCATAAGCCTGCTAGGAGGTGGGTGGGGCACCCAGGGCAGGGTTGAGGGTGAACAGGATGTTACAAGAGTGCCCAGGCCATGTGGAACCTGCCCACTCCCCACACTGAGGAGGGGACTGAGGGTGACAAGCCCAGGGCCCCAGAAGACAGTACCTAAGATGGGCTGGAGTGAGGAAGGGAAACTGATTGCAACCACCTATGGGGCTGCAGACCTGAAAATGCAACAGCGCATCATGAACCTGATCTGTGACCCGGACCTAACCAAGGTGAGCCGATGCCTGGAGCATGCCCTGACTGCTCGACACCCCCGAACCCGCTACAGCCCAGGTTGGGATGCCAAGCTGCTCTGGCTGCCTGCCTCCTACCTGCCAGCCAGCCTGGTGGATGCTGTGCTCACCTGGGTCCTTCCCAAGCCTGCCCAAGCAGTCTACTGAATCCAGCCTTCCAGCAAGAGATTGTTTTTCAAGGACAAGGACTTTGATTTATTTCTGCCCCCACCCTGGTACTGCCTGGTGCCTGCCACAAAATAAGCACTAACAAAAGTGTATTGTTTAAAAAATAAAAAGAAGGTGGGCAGAAATGTGCCCAGTGGAAGGCTGACCCCATTTAAGTGCCAACTACTCCAAACCGACATGCTCACGGTCTCTGGCCTGTTCAGTCCCTGCAAAACAGCTAGCACCCACAGTGGGGCGCCAGGGAACTGCCTCACATCTACAGCTGCACGTCGGGGAGTGGCCATCAAAGGGCACTTTAATACATTTCCCTTATTTTCTGAAGGGGAGTAAGGTTGCAATTCAGTGTCTGTACTGGGAATGGTCTTCATATTTCTTGGGGGAGAAGAGCAGGTGATGAGGGTTCTGGGCCAGGCTGGGTGGCTTCCATGGAAGAAAAGGCAATATTCACATAAATTCTCCTGCTAAGGACACTGACCACACAGGTGTCAAGGCAACTTATCATACTTCGAAAGGAGCTGGATCCCTTGAGGATTGGCCAGGAAGGGAGGTGCTGGGCCCTTAGCGGTGCACAGAAGGCCAGGAAGATGTCCAAGGCAGATGGGGGCTGGGCTCTCGCAGGTGGGACCTTTCTGGGGAGCTGCTTTGACTTATGCAGCAGATGGCTTCATGAATGTTCATAGTGAGCCTGGCAGCATAAGACTAGGGGGCAGAAAGCACCACAGTCTCTGGATCCTCACTTCTCCCACTGCCTGCCCAACCAACACCTTCGCAAAGTCCTCCTTTCCCAAACACCCCCCAAAATAGACCTCGAAGTACACATGCATTAAGGTCCCAGAGGACAGGGAACATCAGTAAGGAAAGGAAGGAATCAAGCATCACTCTAAGACAAACTCAGACCATCTCTTTTCGGTCTGAAAAAATAATCCGTTTAATTGAAAAACCTGGAGGATACTATTCCACTCCCCCAGATGAGGAGGCTGAGGAGACCAGACCCCTACATCACCTCGTAGCCACTTCTGATACTCTTCACGAGGCAGCAGGCAAAGACAATTCCCAAAACCTAGAAGGAAAGATGGGGACAGGGGTGGAGAGGAGTCAGAAGGGCTAGCTACCTCAGACCCATGCAAGAGACTCCAAACACACACTCCCAGGCCAGTACCTCCTGTTCAGCACCCTCCTCCCCTCAGCCCCTTCCCTCCAGGCACCCTGGACAGAGTCCCAGCCCCTGCTCAGGGTTATCTCTTACCTCGACAAAAGCAATTCCAAGGGCTGCTGCAGCTACCACCAGCACATTTTTCCTCAGCCAGCCCCCAATCTTCTCCACACAGCCCTGAAGGTGGCAGGCACAAAGGACAAAAGCACCATCAGAAACTTCCCACCCCAACCCCCTCCCTTGGTCCATCAGTCTCTTCCCTGCCCCTGTACCTTTCACCCCACCCTTAGCATTTCCAGATCCCCTCCCCATCCCTGACCCTGTCCACCTCCATCCTGGGTCTCTTGCATTCTAAAACATTTCCCAGGTTTCCCAAGTCCCATACACAGTCTCCTCCCTACCTCCTTATGGATCGCCTTCTCGTTGAAATTAATCCCACAGCCCACAGTAACATTAATGCAGCAGGAGTCGGGGACTCGGTTCTTCGACATGGAAGGGATTTTCTCCCAATCTGTGTAGTTAGCAGCCCCACAGCACTTAAACTGGGGGAGGGAAGAAATATGGAGAAGAAGGTTGTTAAGTGAACCTTCACCTTCAATATGGAGATGAGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGACTTGCTCTGTTGCCCAGACAAGTGCCCAGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCCTCCTGAGTAGG
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CTCGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTGGAGAGTCTGGAGAAAACCCTGCAGGCCTGCTGGGCACGGCTGCCTCCTGCCACACAGGCCCACTATGGGGGGGCCTTCCTCACCAAGTGTGAGTAGCCAGGCCCACACAGGGGCACATGAAGGGAAACAAGTACCAGAAAGGCCAGTCCTGCATAAGCCTGCTAGGAGGTGGGTGGGGCACCCAGGGCAGGGTTGAGGGTGAACAGGATGTTACAAGAGTGCCCAGGCCATGTGGAACCTGCCCACTCCCCACACTGAGGAGGGGACTGAGGGTGACAAGCCCAGGGCCCCAGAAGACAGTACCTAAGATGGGCTGGAGTGAGGAAGGGAAACTGATTGCAACCACCTATGGGGCTGCAGACCTGAAAATGCAACAGCGCATCATGAACCTGATCTGTGACCCGGACCTAACCAAGGTGAGCCGATGCCTGGAGCATGCCCTGACTGCTCGACACCCCCGAACCCGCCACAGCCCAGGTTGGGATGCCAAGCTGCTCTGGCTGCCTGCCTCCTACCTGCCAGCCAGCCTGGTGGATGCTGTGCTCACCTGGGTCCTTCCCAAGCCTGCCCAAGCAGTCTACTGAATCCAGCCTTCCAGCAAGAGATTGTTTTTCAAGGACAAGGACTTTGATTTATTTCTGCCCCCACCCTGGTACTGCCTGGTGCCTGCCACAAAATAAGCACTAACAAAAGTGTATTGTTTAAAAAATAAAAAGAAGGTGGGCAGAAATGTGCCCAGTGGAAGGCTGACCCCATTTAAGTGCCAACTACTCCAAACCGACATGCTCACGGTCTCTGGCCTGTTCAGTCCCTGCAAAACAGCTAGCACCCACAGTGGGGCGCCAGGGAACTGCCTCACATCTACAGCTGCACGTCGGGGAGTGGCCATCAAAGGGCACTTTAATACATTTCCCTTATTTTCTGAAGGGGAGTAAGGTTGCAATTCAGTGTCTGTACTGGGAATGGTCTTCATATTTCTTGGGGGAGAAGAGCAGGTGATGAGGGTTCTGGGCCAGGCTGGGTGGCTTCCATGGAAGAAAAGGCAATATTCACATAAATTCTCCTGCTAAGGACACTGACCACACAGGTGTCAAGGCAACTTATCATACTTCGAAAGGAGCTGGATCCCTTGAGGATTGGCCAGGAAGGGAGGTGCTGGGCCCTTAGCGGTGCACAGAAGGCCAGGAAGATGTCCAAGGCAGATGGGGGCTGGGCTCTCGCAGGTGGGACCTTTCTGGGGAGCTGCTTTGACTTATGCAGCAGATGGCTTCATGAATGTTCATAGTGAGCCTGGCAGCATAAGACTAGGGGGCAGAAAGCACCACAGTCTCTGGATCCTCACTTCTCCCACTGCCTGCCCAACCAACACCTTCGCAAAGTCCTCCTTTCCCAAACACCCCCCAAAATAGACCTCGAAGTACACATGCATTAAGGTCCCAGAGGACAGGGAACATCAGTAAGGAAAGGAAGGAATCAAGCATCACTCTAAGACAAACTCAGACCATCTCTTTTCGGTCTGAAAAAATAATCCGTTTAATTGAAAAACCTGGAGGATACTATTCCACTCCCCCAGATGAGGAGGCTGAGGAGACCAGACCCCTACATCACCTCGTAGCCACTTCTGATACTCTTCACGAGGCAGCAGGCAAAGACAATTCCCAAAACCTAGAAGGAAAGATGGGGACAGGGGTGGAGAGGAGTCAGAAGGGCTAGCTACCTCAGACCCATGCAAGAGACTCCAAACACACACTCCCAGGCCAGTACCTCCTGTTCAGCACCCTCCTCCCCTCAGCCCCTTCCCTCCAGGCACCCTGGACAGAGTCCCAGCCCCTGCTCAGGGTTATCTCTTACCTCGACAAAAGCAATTCCAAGGGCTGCTGCAGCTACCACCAGCACATTTTTCCTCAGCCAGCCCCCAATCTTCTCCACACAGCCCTGAAGGTGGCAGGCACAAAGGACAAAAGCACCATCAGAAACTTCCCACCCCAACCCCCTCCCTTGGTCCATCAGTCTCTTCCCTGCCCCTGTACCTTTCACCCCACCCTTAGCATTTCCAGATCCCCTCCCCATCCCTGACCCTGTCCACCTCCATCCTGGGTCTCTTGCATTCTAAAACATTTCCCAGGTTTCCCAAGTCCCATACACAGTCTCCTCCCTACCTCCTTATGGATCGCCTTCTCGTTGAAATTAATCCCACAGCCCACAGTAACATTAATGCAGCAGGAGTCGGGGACTCGGTTCTTCGACATGGAAGGGATTTTCTCCCAATCTGTGTAGTTAGCAGCCCCACAGCACTTAAACTGGGGGAGGGAAGAAATATGGAGAAGAAGGTTGTTAAGTGAACCTTCACCTTCAATATGGAGATGAGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGACTTGCTCTGTTGCCCAGACAAGTGCCCAGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCCTCCTGAGTAGG
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Task1_train_17970
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A variant on Chromosome 12 in gene BLOC1S1-RDH5, CD63, RDH5 (BLOC1S1-RDH5 readthrough| CD63 molecule| retinol dehydrogenase 5) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; not provided
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TTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTGGAGAGTCTGGAGAAAACCCTGCAGGCCTGCTGGGCACGGCTGCCTCCTGCCACACAGGCCCACTATGGGGGGGCCTTCCTCACCAAGTGTGAGTAGCCAGGCCCACACAGGGGCACATGAAGGGAAACAAGTACCAGAAAGGCCAGTCCTGCATAAGCCTGCTAGGAGGTGGGTGGGGCACCCAGGGCAGGGTTGAGGGTGAACAGGATGTTACAAGAGTGCCCAGGCCATGTGGAACCTGCCCACTCCCCACACTGAGGAGGGGACTGAGGGTGACAAGCCCAGGGCCCCAGAAGACAGTACCTAAGATGGGCTGGAGTGAGGAAGGGAAACTGATTGCAACCACCTATGGGGCTGCAGACCTGAAAATGCAACAGCGCATCATGAACCTGATCTGTGACCCGGACCTAACCAAGGTGAGCCGATGCCTGGAGCATGCCCTGACTGCTCGACACCCCCGAACCCGCTACAGCCCAGGTTGGGATGCCAAGCTGCTCTGGCTGCCTGCCTCCTACCTGCCAGCCAGCCTGGTGGATGCTGTGCTCACCTGGGTCCTTCCCAAGCCTGCCCAAGCAGTCTACTGAATCCAGCCTTCCAGCAAGAGATTGTTTTTCAAGGACAAGGACTTTGATTTATTTCTGCCCCCACCCTGGTACTGCCTGGTGCCTGCCACAAAATAAGCACTAACAAAAGTGTATTGTTTAAAAAATAAAAAGAAGGTGGGCAGAAATGTGCCCAGTGGAAGGCTGACCCCATTTAAGTGCCAACTACTCCAAACCGACATGCTCACGGTCTCTGGCCTGTTCAGTCCCTGCAAAACAGCTAGCACCCACAGTGGGGCGCCAGGGAACTGCCTCACATCTACAGCTGCACGTCGGGGAGTGGCCATCAAAGGGCACTTTAATACATTTCCCTTATTTTCTGAAGGGGAGTAAGGTTGCAATTCAGTGTCTGTACTGGGAATGGTCTTCATATTTCTTGGGGGAGAAGAGCAGGTGATGAGGGTTCTGGGCCAGGCTGGGTGGCTTCCATGGAAGAAAAGGCAATATTCACATAAATTCTCCTGCTAAGGACACTGACCACACAGGTGTCAAGGCAACTTATCATACTTCGAAAGGAGCTGGATCCCTTGAGGATTGGCCAGGAAGGGAGGTGCTGGGCCCTTAGCGGTGCACAGAAGGCCAGGAAGATGTCCAAGGCAGATGGGGGCTGGGCTCTCGCAGGTGGGACCTTTCTGGGGAGCTGCTTTGACTTATGCAGCAGATGGCTTCATGAATGTTCATAGTGAGCCTGGCAGCATAAGACTAGGGGGCAGAAAGCACCACAGTCTCTGGATCCTCACTTCTCCCACTGCCTGCCCAACCAACACCTTCGCAAAGTCCTCCTTTCCCAAACACCCCCCAAAATAGACCTCGAAGTACACATGCATTAAGGTCCCAGAGGACAGGGAACATCAGTAAGGAAAGGAAGGAATCAAGCATCACTCTAAGACAAACTCAGACCATCTCTTTTCGGTCTGAAAAAATAATCCGTTTAATTGAAAAACCTGGAGGATACTATTCCACTCCCCCAGATGAGGAGGCTGAGGAGACCAGACCCCTACATCACCTCGTAGCCACTTCTGATACTCTTCACGAGGCAGCAGGCAAAGACAATTCCCAAAACCTAGAAGGAAAGATGGGGACAGGGGTGGAGAGGAGTCAGAAGGGCTAGCTACCTCAGACCCATGCAAGAGACTCCAAACACACACTCCCAGGCCAGTACCTCCTGTTCAGCACCCTCCTCCCCTCAGCCCCTTCCCTCCAGGCACCCTGGACAGAGTCCCAGCCCCTGCTCAGGGTTATCTCTTACCTCGACAAAAGCAATTCCAAGGGCTGCTGCAGCTACCACCAGCACATTTTTCCTCAGCCAGCCCCCAATCTTCTCCACACAGCCCTGAAGGTGGCAGGCACAAAGGACAAAAGCACCATCAGAAACTTCCCACCCCAACCCCCTCCCTTGGTCCATCAGTCTCTTCCCTGCCCCTGTACCTTTCACCCCACCCTTAGCATTTCCAGATCCCCTCCCCATCCCTGACCCTGTCCACCTCCATCCTGGGTCTCTTGCATTCTAAAACATTTCCCAGGTTTCCCAAGTCCCATACACAGTCTCCTCCCTACCTCCTTATGGATCGCCTTCTCGTTGAAATTAATCCCACAGCCCACAGTAACATTAATGCAGCAGGAGTCGGGGACTCGGTTCTTCGACATGGAAGGGATTTTCTCCCAATCTGTGTAGTTAGCAGCCCCACAGCACTTAAACTGGGGGAGGGAAGAAATATGGAGAAGAAGGTTGTTAAGTGAACCTTCACCTTCAATATGGAGATGAGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGACTTGCTCTGTTGCCCAGACAAGTGCCCAGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCCTCCTGAGTAGGTGGGATTACAGGCACTCACCACCACACCTGGCTAATTTT
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TTACAGGTGTGAGCCACCACGCCCGGCCTTGCCTCTCGTCTTTAAACAATAAGGTTCAAAGTTCCGTGGGAGCACAAAGGAGACATGATGAGGACAACGGGAGTAGGGCCTGAGTTTTTTTTTGTTTTTTTTTTTTTAAGCGTTTTGCTCTTGTTGCCTAGGCTGGAGTGCAATGGCGAGATCTCAGCTCACTGCAACCCCTGCCTCTCAGGTTCATGTGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGCTTACAGGCACGTGCCACCACTCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGAGTTATACCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCCACCCGACCCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACACGGCCCAAGGCCTGAGTTCTTAGCAGGAGTATAAGGCGCCTAAGCTTAGTCTACCTTCTAAGGAAGCCTGCGTTTGTCACCATCACTCAGCAAATAACCTGAATGTCTCCTGTCTCTCAGCCTTAATTTTTCAGGCAGCATCATGGGACACATACTTTTAGTTTTGAGACAAGGCCTTGCTCTCACCCAGGGTGGAGTGCAGTGGTGCAGTCACGGCCCACTGAACTTCAAACTCCTAGGCTCAAGCAGCTCAAGCGATATCCGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGCGCGTGCCAGCATGCCTGGCTAGTATTTTTTTACAGATGGGGTCTTGCTGTGGTGACCAGACTTGTCTCCAACTCCCGGCCTCAAGCGATGCTTCCGCCTGGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCCACTGCATACTGGAACACATACTTTATACTTGAATTTTTTTTTATCCCCTTCCCTCCTGCTCCTTACCTATACTTGGATTTCTACATCTGTGCCAGGGCAGTGGGATGTATCCCCACTTTCCCCATCAGCTTACCCTCCAGCAAATACGAGACTATACCCTTCAATATCCAGCACTCAGGGCTCAACCATGTGTTTTGGGAGCAAGGGAATGGGGTTCCTCTAGGTCAGGAATCGGCAAACTCAGTACTCAAGCCAGATCTGGCCAGCTGCCTACAAGCTGATAATGGTTTTTTTTATTTTTAAATGGTTACATTGTAAACTGTTATATAAGTACCTGATAATATCATTAATTTTGTTTCTTGGCCTGCCATGCTTAAAATATTAACTCTCTGGCCCTTTAAGAAAAAAACGTGCTGACCCCTGCTCTAGATCAAAGAAAACAAACCTCAAAAATACTTTCCTCCCTCTACCCCACTTGACCCTTGTCCCGGGGCAGTAGGCATCTCCGTCAAAACTCTTGTCCCTGGTCTGTGGTAACTTTCTCAGCTCCCCAACCCATGTCCCTCAAAGTCCCCTCCCTATAGGGCAAGAACCCAGCAACTTCGCTCTGCCCCGACTCTAGGCGGGATGTAGCTCATTTTGGGATACGAGTCTCCATCGTGGAGCCTGGCTTCTTCCGAACCCCTGTGACCAACCTGGAGAGTCTGGAGAAAACCCTGCAGGCCTGCTGGGCACGGCTGCCTCCTGCCACACAGGCCCACTATGGGGGGGCCTTCCTCACCAAGTGTGAGTAGCCAGGCCCACACAGGGGCACATGAAGGGAAACAAGTACCAGAAAGGCCAGTCCTGCATAAGCCTGCTAGGAGGTGGGTGGGGCACCCAGGGCAGGGTTGAGGGTGAACAGGATGTTACAAGAGTGCCCAGGCCATGTGGAACCTGCCCACTCCCCACACTGAGGAGGGGACTGAGGGTGACAAGCCCAGGGCCCCAGAAGACAGTACCTAAGATGGGCTGGAGTGAGGAAGGGAAACTGATTGCAACCACCTATGGGGCTGCAGACCTGAAAATGCAACAGCGCATCATGAACCTGATCTGTGACCCGGACCTAACCAAGGTGAGCCGATGCCTGGAGCATGCCCTGACTGCTCGACACCCCCGAACCCGCTACAGCCCAGGTTGGGATGCCAAGCTGCTCTGGCTGCCTCCCTCCTACCTGCCAGCCAGCCTGGTGGATGCTGTGCTCACCTGGGTCCTTCCCAAGCCTGCCCAAGCAGTCTACTGAATCCAGCCTTCCAGCAAGAGATTGTTTTTCAAGGACAAGGACTTTGATTTATTTCTGCCCCCACCCTGGTACTGCCTGGTGCCTGCCACAAAATAAGCACTAACAAAAGTGTATTGTTTAAAAAATAAAAAGAAGGTGGGCAGAAATGTGCCCAGTGGAAGGCTGACCCCATTTAAGTGCCAACTACTCCAAACCGACATGCTCACGGTCTCTGGCCTGTTCAGTCCCTGCAAAACAGCTAGCACCCACAGTGGGGCGCCAGGGAACTGCCTCACATCTACAGCTGCACGTCGGGGAGTGGCCATCAAAGGGCACTTTAATACATTTCCCTTATTTTCTGAAGGGGAGTAAGGTTGCAATTCAGTGTCTGTACTGGGAATGGTCTTCATATTTCTTGGGGGAGAAGAGCAGGTGATGAGGGTTCTGGGCCAGGCTGGGTGGCTTCCATGGAAGAAAAGGCAATATTCACATAAATTCTCCTGCTAAGGACACTGACCACACAGGTGTCAAGGCAACTTATCATACTTCGAAAGGAGCTGGATCCCTTGAGGATTGGCCAGGAAGGGAGGTGCTGGGCCCTTAGCGGTGCACAGAAGGCCAGGAAGATGTCCAAGGCAGATGGGGGCTGGGCTCTCGCAGGTGGGACCTTTCTGGGGAGCTGCTTTGACTTATGCAGCAGATGGCTTCATGAATGTTCATAGTGAGCCTGGCAGCATAAGACTAGGGGGCAGAAAGCACCACAGTCTCTGGATCCTCACTTCTCCCACTGCCTGCCCAACCAACACCTTCGCAAAGTCCTCCTTTCCCAAACACCCCCCAAAATAGACCTCGAAGTACACATGCATTAAGGTCCCAGAGGACAGGGAACATCAGTAAGGAAAGGAAGGAATCAAGCATCACTCTAAGACAAACTCAGACCATCTCTTTTCGGTCTGAAAAAATAATCCGTTTAATTGAAAAACCTGGAGGATACTATTCCACTCCCCCAGATGAGGAGGCTGAGGAGACCAGACCCCTACATCACCTCGTAGCCACTTCTGATACTCTTCACGAGGCAGCAGGCAAAGACAATTCCCAAAACCTAGAAGGAAAGATGGGGACAGGGGTGGAGAGGAGTCAGAAGGGCTAGCTACCTCAGACCCATGCAAGAGACTCCAAACACACACTCCCAGGCCAGTACCTCCTGTTCAGCACCCTCCTCCCCTCAGCCCCTTCCCTCCAGGCACCCTGGACAGAGTCCCAGCCCCTGCTCAGGGTTATCTCTTACCTCGACAAAAGCAATTCCAAGGGCTGCTGCAGCTACCACCAGCACATTTTTCCTCAGCCAGCCCCCAATCTTCTCCACACAGCCCTGAAGGTGGCAGGCACAAAGGACAAAAGCACCATCAGAAACTTCCCACCCCAACCCCCTCCCTTGGTCCATCAGTCTCTTCCCTGCCCCTGTACCTTTCACCCCACCCTTAGCATTTCCAGATCCCCTCCCCATCCCTGACCCTGTCCACCTCCATCCTGGGTCTCTTGCATTCTAAAACATTTCCCAGGTTTCCCAAGTCCCATACACAGTCTCCTCCCTACCTCCTTATGGATCGCCTTCTCGTTGAAATTAATCCCACAGCCCACAGTAACATTAATGCAGCAGGAGTCGGGGACTCGGTTCTTCGACATGGAAGGGATTTTCTCCCAATCTGTGTAGTTAGCAGCCCCACAGCACTTAAACTGGGGGAGGGAAGAAATATGGAGAAGAAGGTTGTTAAGTGAACCTTCACCTTCAATATGGAGATGAGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGACTTGCTCTGTTGCCCAGACAAGTGCCCAGCGGTGGCTCAATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCACCCTCCTGAGTAGGTGGGATTACAGGCACTCACCACCACACCTGGCTAATTTT
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Task1_train_17971
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A change on Chromosome 12 affects gene SUOX (sulfite oxidase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Sulfocysteinuria
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GACACAAGAATCACTTAAACCCAGGAGGCTAAGTCTGCAGTGAGCCAAGATCAAGATCAGGCCACTGCTCTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAATTGTCAGAATAAAGGAATCAGTCCTAGTAAACTCCACAGGCAACCCAGGCTGTGACCCATGTTCTTGTAGTTACCACAGAGTTCACAGTGACGCAGTCTTCATGCACAGTGGAGATGAAATCTGCTAATCTGCTACCTTCGCTTCCCAGTGGCCAACACCGTGGGTTGGGTCAGGGTGAGCTCAAGTGATTTCTTCTTATTCTTCTTCATTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACCACAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGCTTCTCCATGTTGGTCAAGCTGGTCTTGAACTCCCGACCTTATGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGTCACCACGCCCGACCAAGTGATTTCTTCTTAATAGTCTCTTCCCTTTTATCTTACTCCTTCCCTGCCAATAGGCTGCTCAGGAGTCAACACACATATACACTAAGGAGGAAGTGAGTTCCCACACCAGCCCTGAGACTGGGATCTGGGTGACTCTGGGCTCTGAGGTCTTTGATGTCACAGAATTTGTGGACCTACATCCAGGGGGGCCTTCAAAGCTGATGCTAGCAGCTGGGGGTCCCCTAGAGCCCTTCTGGGCCCTCTATGCTGTTCACAACCAGTCCCATGTGCGTGAGTTACTGGCTCAGTACAAGATTGGGGAGCTGAATCCTGAAGACAAGGTAGCCCCCACCGTGGAGACCTCTGACCCTTATGCTGATGATCCTGTACGTCACCCAGCCCTGAAGGTCAACAGCCAGCGGCCCTTTAATGCAGAGCCTCCCCCTGAGCTGCTGACAGAAAACTACATCACACCCAACCCTATCTTCTTCACCCGGAACCATCTGCCTGTACCTAACCTGGATCCAGACACCTATCGCTTACACGTAGTAGGAGCACCTGGGGGTCAGTCACTGTCTCTTTCCCTGGATGACTTGCACAACTTTCCCAGGTACGAGATCACAGTCACTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTGGAGTGGAGAACAGGAGCCATCAGCACTGCACGCTGGGCTGGGGCACGGCTCTGTGATGTGTTAGCCCAGGCTGGCCACCAACTCTGTGAAACTGAGGCCCACGTCTGCTTTGAGGGACTGGACTCAGACCCTACTGGGACTGCCTATGGAGCATCCATCCCTCTGGCTCGGGCCATGGACCCTGAAGCTGAGGTCCTGCTGGCATATGAGATGAATGGGCAGCCTCTGCCACGTGACCACGGCTTCCCTGTGCGTGTGGTGGTTCCTGGAGTGGTGGGTGCCCGCCATGTCAAATGGCTGGGCAGAGTGAGTGTGCAGCCAGAGGAAAGTTACAGCCACTGGCAACGGCGGGATTACAAAGGCTTCTCTCCATCTGTGGACTGGGAGACTGTAGATTTTGACTCTGCTCCATCCATTCAGGAACTTCCTGTCCAGTCGGCCATCACAGAGCCCCGGGATGGAGAGACTGTAGAATCAGGGGAGGTGACCATCAAGGGCTATGCATGGAGTGGTGGTGGCAGGGCTGTGATCCGGGTGGATGTGTCTCTGGATGGGGGCCTAACCTGGCAGGTGGCTAAGCTGGATGGAGAGGAACAGCGCCCCAGGAAGGCCTGGGCATGGCGTCTGTGGCAGTTGAAAGCCCCTGTGCCAGCTGGACAAAAGGAACTGAACATTGTTTGTAAGGCTGTGGATGATGGTTACAATGTGCAGCCAGACACCGTGGCCCCAATCTGGAACCTGCGAGGTGTTCTCAGCAATGCCTGGCATCGTGTCCATGTCTATGTCTCCCCATGAGCATGGAAAGGAGCCACCTCCACCCCTTTCCCCACCCATTAGCCTCACTGCTTCAGAAAAATCTTTCCCACCTTTCAACTTCTTGGATCACAACTCTGGCCTTCCTAAGCCATACCCAAGTACACATATAGCACATTTCACCCAAGGACCTTCCCTCTTTGGACACTATGTTACATACCCCTCTTGGCCTTTGAACCTGTGCCAGGAAGTGTGAGCTGTTACAGCAAGGGGCTAGAAGTGAAAAAAGTAATTCTGGAGACAAGCACTATTTTCTCTTCCTACCCCACCTCCATTTCTAATGCCTACTGCCATCAAGGCCTTGTTTTGCTTTTCTTTTTGGATTGTTCAGAGAAATGTGTGTGGCATGTGTAAGAAAAGTGTATATACTATCTTATACTACCTCTCCAGGTTGCCAGAGAGTTGCGAGGAGAGCAAGGGGCACAACCGTCTCCCTTTATAGTTCTACTTTTCTAATAAATAGTCTGTTTAAGATCATAACTCTTGGGCCTGGGGAGTGAGCCTATTGCAGGAGGAAGGATGCATTTGTACTGGGATGTATAATGAGATTAGACCAAAACAAACAAAACTGGGGAGGAAGACAGAGAGGAAGTAGGCTTGTAGGTTAAGAAGTAGGGCTTCCGGCTGAGCACAGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTCTACCAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCCACTACACCCCAGCCTGTGCGACAAAGCGAGATTCTGTCTCAAAAAAAGGGGGGCTTCCTTCTCTGAGGTTTGGCAGTATCTGCAGGGACACCTAGGTGATTGACCTCAGGATACCATGAAGAGAGGAGAGGTGACAAAAACATGTACCCTCCAACTCCTTTCCCCAACAGTTCCAATGCACTTGGCAGGAAAGGCAAAGGGTGCTAGGAGTTTAAAATCAATATTGTCTTAGGAGGTCGTGAAAGCAAAATAAATCTTGAGGCCCCAGAATCACTAAGCTAAAGGGAAAAGTCAAGCTGGGAACTGATTAGGGTAAACCTGCCTCCCATTCAAAGTCATCCCTCTGCTCACTGAGATAAATGCATACCTGATTGCCTTCTTTGAGTGGAATACAACCATTTGCCTCTTTTTTTTTTTTTTTTTTTGTAGAGACAGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGAGTGCGGTGGCACGATCTCCGCTCACTGCAACCTCCGTCTCCGGAGTTCAAGCAATTCTGTCTCAGCCTCCCAGGTAGCTGGGACGACAGGCGCACACCGCCACGCCCGGCTAATTTCTTTTGTATTTTAGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAGTACGTCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCAAGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTATTGCTCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGGGCCACCACACCCGGCTAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCCGCTCCATTTACCTCTTATCTACCTATGACCTGGAAGCCTCCTCCCAGCTTGAGTTGTCCCGCCTTTACATATATTGATTGATGTCTCTTGTCTCCCT
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GACACAAGAATCACTTAAACCCAGGAGGCTAAGTCTGCAGTGAGCCAAGATCAAGATCAGGCCACTGCTCTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAATTGTCAGAATAAAGGAATCAGTCCTAGTAAACTCCACAGGCAACCCAGGCTGTGACCCATGTTCTTGTAGTTACCACAGAGTTCACAGTGACGCAGTCTTCATGCACAGTGGAGATGAAATCTGCTAATCTGCTACCTTCGCTTCCCAGTGGCCAACACCGTGGGTTGGGTCAGGGTGAGCTCAAGTGATTTCTTCTTATTCTTCTTCATTTTTTCTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACCACAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGCTTCTCCATGTTGGTCAAGCTGGTCTTGAACTCCCGACCTTATGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGTTGTGAGTCACCACGCCCGACCAAGTGATTTCTTCTTAATAGTCTCTTCCCTTTTATCTTACTCCTTCCCTGCCAATAGGCTGCTCAGGAGTCAACACACATATACACTAAGGAGGAAGTGAGTTCCCACACCAGCCCTGAGACTGGGATCTGGGTGACTCTGGGCTCTGAGGTCTTTGATGTCACAGAATTTGTGGACCTACATCCAGGGGGGCCTTCAAAGCTGATGCTAGCAGCTGGGGGTCCCCTAGAGCCCTTCTGGGCCCTCTATGCTGTTCACAACCAGTCCCATGTGCGTGAGTTACTGGCTCAGTACAAGATTGGGGAGCTGAATCCTGAAGACAAGGTAGCCCCCACCGTGGAGACCTCTGACCCTTATGCTGATGATCCTGTACGTCACCCAGCCCTGAAGGTCAACAGCCAGCGGCCCTTTAATGCAGAGCCTCCCCCTGAGCTGCTGACAGAAAACTACATCACACCCAACCCTATCTTCTTCACCCGGAACCATCTGCCTGTACCTAACCTGGATCCAGACACCTATCGCTTACACGTAGTAGGAGCACCTGGGGGTCAGTCACTGTCTCTTTCCCTGGATGACTTGCACAACTTTCCCAGGTACGAGATCACAGTCACTCTGCAGTGTGCCGGCAACCGACGCTCTGAGATGACTCAGGTCAAAGAAGTAAAAGGTCTGGAGTGGAGAACAGGAGCCATCAGCACTGCACGCTGGGCTGGGGCACGGCTCTGTGATGTGTTAGCCCAGGCTGGCCACCAACTCTGTGAAACTGAGGCCCACGTCTGCTTTGAGGGACTGGACTCAGACCCTACTGGGACTGCCTATGGAGCATCCATCCCTCTGGCTCGGGCCATGGACCCTGAAGCTGAGGTCCTGCTGGCATATGAGATGAATGGGCAGCCTCTGCCACGTGACCACGGCTTCCCTGTGCGTGTGGTGGTTCCTGGAGTGGTGGGTGCCCGCCATGTCAAATGGCTGGGCAGAGTGAGTGTGCAGCCAGAGGAAAGTTACAGCCACTGGCAACGGCGGGATTACAAAGGCTTCTCTCCATCTGTGGACTGGGAGACTGTAGATTTTGACTCTGCTCCATCCATTCAGGAACTTCCTGTCCAGTCGGCCATCACAGAGCCCCGGGATGGAGAGACTGTAGAATCAGGGGAGGTGACCATCAAGGGCTATGCATGGAGTGGTGGTGGCAGGGCTGTGATCCGGGTGGATGTGTCTCTGGATGGGGGCCTAACCTGGCAGGTGGCTAAGCTGGATGGAGAGGAACAGCGCCCCAGGAAGGCCTGGGCATGGCGTCTGTGGCAGTTGAAAGCCCCTGTGCCAGCTGGACAAAAGGAACTGAACATTGTTTGTAAGGCTGTGGATGATGGTTACAATGTGCAGCCAGACACCGTGGCCCCAATCTGGAACCTGCGAGATGTTCTCAGCAATGCCTGGCATCGTGTCCATGTCTATGTCTCCCCATGAGCATGGAAAGGAGCCACCTCCACCCCTTTCCCCACCCATTAGCCTCACTGCTTCAGAAAAATCTTTCCCACCTTTCAACTTCTTGGATCACAACTCTGGCCTTCCTAAGCCATACCCAAGTACACATATAGCACATTTCACCCAAGGACCTTCCCTCTTTGGACACTATGTTACATACCCCTCTTGGCCTTTGAACCTGTGCCAGGAAGTGTGAGCTGTTACAGCAAGGGGCTAGAAGTGAAAAAAGTAATTCTGGAGACAAGCACTATTTTCTCTTCCTACCCCACCTCCATTTCTAATGCCTACTGCCATCAAGGCCTTGTTTTGCTTTTCTTTTTGGATTGTTCAGAGAAATGTGTGTGGCATGTGTAAGAAAAGTGTATATACTATCTTATACTACCTCTCCAGGTTGCCAGAGAGTTGCGAGGAGAGCAAGGGGCACAACCGTCTCCCTTTATAGTTCTACTTTTCTAATAAATAGTCTGTTTAAGATCATAACTCTTGGGCCTGGGGAGTGAGCCTATTGCAGGAGGAAGGATGCATTTGTACTGGGATGTATAATGAGATTAGACCAAAACAAACAAAACTGGGGAGGAAGACAGAGAGGAAGTAGGCTTGTAGGTTAAGAAGTAGGGCTTCCGGCTGAGCACAGTGGCTCACGCCTGTAATCCCAGCACTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTCTACCAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACACCCACTACACCCCAGCCTGTGCGACAAAGCGAGATTCTGTCTCAAAAAAAGGGGGGCTTCCTTCTCTGAGGTTTGGCAGTATCTGCAGGGACACCTAGGTGATTGACCTCAGGATACCATGAAGAGAGGAGAGGTGACAAAAACATGTACCCTCCAACTCCTTTCCCCAACAGTTCCAATGCACTTGGCAGGAAAGGCAAAGGGTGCTAGGAGTTTAAAATCAATATTGTCTTAGGAGGTCGTGAAAGCAAAATAAATCTTGAGGCCCCAGAATCACTAAGCTAAAGGGAAAAGTCAAGCTGGGAACTGATTAGGGTAAACCTGCCTCCCATTCAAAGTCATCCCTCTGCTCACTGAGATAAATGCATACCTGATTGCCTTCTTTGAGTGGAATACAACCATTTGCCTCTTTTTTTTTTTTTTTTTTTGTAGAGACAGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGGAGTGCGGTGGCACGATCTCCGCTCACTGCAACCTCCGTCTCCGGAGTTCAAGCAATTCTGTCTCAGCCTCCCAGGTAGCTGGGACGACAGGCGCACACCGCCACGCCCGGCTAATTTCTTTTGTATTTTAGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAGTACGTCTGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCAAGCCCGGCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTATTGCTCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGGGCCACCACACCCGGCTAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCCGCTCCATTTACCTCTTATCTACCTATGACCTGGAAGCCTCCTCCCAGCTTGAGTTGTCCCGCCTTTACATATATTGATTGATGTCTCTTGTCTCCCT
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Task1_train_17972
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Assess the clinical impact of this variant on gene RPS26 (ribosomal protein S26), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; not provided
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AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGATGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAAT
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AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGCTGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAAT
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Task1_train_17973
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A mutation in RPS26 (ribosomal protein S26), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Diamond-Blackfan anemia 10
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AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGATGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAAT
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AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGGTGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAAT
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Task1_train_17974
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Given this context: Chromosome 12, gene RPS26 (ribosomal protein S26) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Diamond-Blackfan anemia
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AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGATGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAAT
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AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGGTGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAAT
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Task1_train_17975
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This sequence variant lies in RPS26 (ribosomal protein S26) on Chromosome 12. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Diamond-Blackfan anemia 10
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AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGATGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAAT
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AATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGTTGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAAT
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Task1_train_17976
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Here’s a variant in RPS26 (ribosomal protein S26) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Diamond-Blackfan anemia 10
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ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGATGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT
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ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGACGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT
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Task1_train_17977
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A mutation on Chromosome 12 affecting RPS26 (ribosomal protein S26) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Diamond-Blackfan anemia
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ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGATGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT
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ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGACGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT
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Task1_train_17978
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Consider this mutation in RPS26 (ribosomal protein S26) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; Diamond-Blackfan anemia 10
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ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGATGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT
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ATCGCTTGAACCCGGGAGGCAGAGGTTGCTGTGAGCTGAGATGGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGAGTCTGTCTCAAAAATAAAAATAAAAAAAGAAAGGAAAAGAAAAAAGAAAGTAAGAAAACAGATTTTAGCCCCAAGAAGTGGGTTAAAGGTTAAAAGAAACCATGATGGGTTGCTGGAGGGAAGGTGAATCTGGTGTGTTCAAACTCTAGAGTGAGTCATAAATGAACAATGGTTTCCATCTGTACCATCCTGGGTCTGAATGCTAGGAGGTCCCCTTGCCACCCTAGTGTCTTCAACTTTGGAGACAACTGGGTGGTTGGCTGTGGACAGCCATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGAGGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT
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Task1_train_17979
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A mutation on Chromosome 12 affecting RPS26 (ribosomal protein S26) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Diamond-Blackfan anemia 10
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CATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGATGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATTGTACTTAATATTGCATGTTAAGTGTATCTGTGCCAGATAAGGTGGGGATTTTGTGTGTTAGACCAAGTGTGAAGTGACACACATTATTTTCATGGGGAAGAAAGCTTATTCATGTAATTTAATTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTGTCGCCCAAGCTGAATTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCTTGAGTAGCTGGGATTACAGGTGTCTGCCACCATGCCTGGTTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACTATGTTGTCCAGGCTGGTCTTGA
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CATTCCTGCCAGGCTGAAGCTTGCTTGCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTATTGCCCAGACTGTAGCACAGTAGCCCAATCTCAGCTCACTGCAACTTCTGCCTCCCGGGTGCAAGCAATTCTCCTGTCTCAGTCTCCCGAGTAGCTGGGATTACAGGTGTGCGCCACCAGGCCTAATTTTTATATTTTTAGTAGAGGTGGGGTGTCACTATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTAAGGCTTAAGTCTTTCCGATGGCTCTTCAGAGGTAAATGGAGCTTACACATAATCTTTCAATTAGGGGTCAGATTCACTAATGAGTGGTGAAATAATTTTCGTGGTTTTTGATCAGCATTTATTAAAATAGAGAACAGAAAGATTAAGTAAAAATAAAGAATAGAACATACCAGCACACCTATGACAAGGGTAAGTATCGTTTCATAAAGCTTGTGTTTCAGTTTTGCATGTGCATGTAATCGTGTTTGTGTGTGTACTGGGTACCAATGTAAAATGTATTCGTGCTATGAATCTGGGTGAAAAACGTTTAAGTCATTAGTCCAGGCTATTCCTCCATCCATTTGTTAGGTGACATACAGCATAGTACAGCGGAGCCAGAATACCTACTGCACGTCAGTTCTTCAATCTTTTTTTTTAATTGATTTATTTATTTTTGAGACAGAGTTTCGATCTTTTTACCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACTGGAAACTCCGCCTCCCAGGTTCAAGATTCTCCTGTCTTAGCCTCCTGAGTACCTGGGATTACAGGCGCCCACCACCAGGCCGGGCTAAATTCTTCAATCTTTAAAGTGAGGATAATAATAGTAGCTACCTATAGGCTTGCTCAAAGTTAAATGAGTTAATATTTATAAAGACGCTTACCACAGGGCCAGGCACTGTGCCAGAGATAAAAAGATGAATGAGAAATAGCCCCAGCCTCAATGCACTTCATTGTGGGATTTTCTCCATATTGGAAGGAGGGATTCACAAAATGCTTGTTTCCTCTCAGGCCTTCCTCTTCGTAATCCTACACCTACCTAGTAGAAGGACTGTCAGAGAAATGAGCCCAGGGCGTCCCCCGGTGGCGCAGCGCCGCCTTCGGTCTAAGCACTTGGGGCAGGGGGGAAGGGGGGGAGGGGGGAGCCTCTTGGCTTCGCACTACAATTCCCACCAAGCATCTGTCCCTCTCTGGCCTCTAATAACGAGTGCGCCTTGTGGTCCAGCGTCTGGCAACTTTCACGCCTAGCGTCGCGTATACCGGAAAACTGCATCGTCCAGAATTGCTTCCGAGTCGGCGCGGCGCAAGGCTTGCTGGGAGACACATAACCTCGATTTTCTTCCGCCATCCGGCTAAATAGTCCCATGTGCACTTTGTTCCATGGATAAATAAACACTAGGAACGCATTTCCACCCTAGATTTCAGCAGAAATGCTGAATGTAAAGGAATATTTGAGTAAAGTGAGTTGCCGTTCTTGAAGCCCGTCTCCTAAGGATTCTCCCGGTGTCCGCGTAGGGATCTCATGCTATATAGGAGGGCCCTGCCAGGCACCGTCTCCTCTCTCCGGTCCGTGCCTCCAAGATGGTGAGTCTTCTTGCGTGGTGAGGGTGGGGGTTCGGGTGCAGACTCTGGGATTGTGGGGAAGTGAGAGCCTGGAGCACGGCTGAGGGGTGGACCGAGTGTACATTTCATTTGCTCTGGGGGTCGGCGGGATTTGCGGAGAAACAGGAGATCCGAGCGGCGCCTTCCTGGAGGCTGCCGGTGCGGCTTGTGGCCGGAAAGGGACTGAGGCTGGGTGAGTTGCGCCGTTTTCCTAACAGTTTTCCCATCCTGTCGCAGACAAAGAAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCCTATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGAACAAGGCCATTAAGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATTTCTGAAGCGAGCGTCTTCGATGGTAAGTGGGTCACCGGCGCGAACTGTGTGAGGATCCCAGTATCTTAAAGCCTTCGCCCAACTTCGCCCTTTTGGAGGCTCTGTTCTTTGGAGCCTCTCAGGCAATTTCCACGTATTTAAGGTTGTTACTGGTAGAAGAGAATTCTCTTGTTTGCCGTTTTGATTCTTTTCTGGGCAGAGGGTGACTTTGTGATAGAGTGCACAGCCTTTACTCTGAGGTAAAGGTTTGCCTGTTTCGGTTATGAGATTGCAAAAACTAGAAACTTGGTAAATTTGACAATTCTTGTGCTATTGATTATTTGAATATTTGTGAAAATATACAGGTGAGGAAGAATGTCTTCAACGTTTCGAGAATGGAGGCCGTCTAGTTTGGTGTGCAAGGATGATGTTTGGAGCAATAAGAACGTCGCTTTGTTTTTTTCCTTTTATAGAAAGAGCAAGGTTCAGGGTAGGCATTAGGGCGGGTGTAGGTGTAGAAGGAACTGGATTATTGGTTTATTGCATTTAGAATGTCAGTCTGGTCCTTGCGGTGTCAAGATGAACTCACGTGGGATGTTAATTCACTTGTAAAACTGAGGGTTATACATATGTGCTCAGGTATTGGGCTGAACAGGTGCTTTGGGGGTGCTTTTATGTGCCCGACAGGCATTTAAATAGGTTTAGTTTTAATTGACGTAAACATGTAAGGTGCTCTTCATTCATGTAACAAAAAAGCAAGGTAGGTATATAATACCAGTATAACTCTATTTTCTATTCCTTAGCCTATGTGCTTCCCAAGCTGTATGTGAAGCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATCGATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCTGCGGTGAGTATTTTAAAAGGAGAATGGAAGCCAGGGGAGTGATGGTTAAAATTTCATCCTGGAGGGTCAGGGTGTCCTATACCTGTAACCTCAACACTTTGGGAGGCTGGGACAAGAAGATTGCTAGAAACCAGCAGTTCAAGACCCCATCTCTTCAAAAAATATTGAGAAGGAAGCCAAGCATGATAGTGTGAACCTATAGTCTGGCTGCTCGAGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGATTATACCACTTGCGCTCCAGCCAGGGCAAAAGTGAGACCTTGTCTCTTAAAAAAAAAAAAAAGTTGCTTCCTCCTGTGGTGCAGGGGGTATCAAATTAAGGTCTGTGCCTCAGGTTAAGCTGTAAGGCAGGTGAGACCCACACCTGAACATGCTTAGAGACACTGCAAAGCAGTGTTAGAATCAGAATTGGTTTTTAGGATGCAGAGTAGTGTTCTCCCTCCACCTCTATCAGCTTCCCATGCATTTGTAGCCTGAATACATCAGTTTGTGAGAGGATGGTGGTCAAGTTCTTTGGGGGAAGGGAGTCTTGGATCCATGGGTTTTAATTTACTCTTTTGTTTCTTTGTCTTTCAGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTTCTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATTGTACTTAATATTGCATGTTAAGTGTATCTGTGCCAGATAAGGTGGGGATTTTGTGTGTTAGACCAAGTGTGAAGTGACACACATTATTTTCATGGGGAAGAAAGCTTATTCATGTAATTTAATTTTTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTTGTCGCCCAAGCTGAATTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCTTGAGTAGCTGGGATTACAGGTGTCTGCCACCATGCCTGGTTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACTATGTTGTCCAGGCTGGTCTTGA
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Task1_train_17980
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This sequence change occurs on Chromosome 12, altering SMARCC2 (SWI/SNF related BAF chromatin remodeling complex subunit C2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Coffin-Siris syndrome 8
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TCATTTGCCTCTGAGCTTTAGCTTTATTCTATGATCTCAGGACTTAGAAACTTGATGTGCAATCTCTTTATTTTTTTGAGACTGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTAGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCAGCATGCCGGGCTAATTTTTTGTATTTTTTTATTCTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTTGATCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCGCGCCCGGCTGATGTGCAATCTCTTAATGTGAATTTGTCAGATACTTTAAACCTTCTTAACTGTTTCTGATGTCTCCATATTGTATATTCATTTGATGTCTCCCATTAAACCTTAAGTTCTCTGAGGTCCCTATCTTCTATTTCTTTTTCTTCTTTTTTTTTTTTTTGAGATAGGGTCTCACTCTGTCACCCAGGCTGGAATGCAATGGGGCAAACATGGCTCAGTGCAGCCTTGACCTCCTGGGCTCAAACGATCCTCCCACCTCAGCTTCCTGAGTAGCTGGGACCACAGGCTCGCACCACCACGCCCGGCTAATTTGTTTATTTTTAAAAAATGTTTGGGCTGGGCACGGTGGCTCATGCCTGAAATCCCAGCGCTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGGGCGAAAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAGCGTGATGACTCACCTGTAATCCGGCACTTTGGGAAGCAGAGATGGGCTGATCACCTGAGATCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTCCCAGGAGGCGGACGTTGTGGTGAGCGAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAATAAATAAATAAATAAATAAATAAAATAAATTGTTGAGACAGAGATCTCACTATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCATCTGCCTCAGTGTACCAAAGTACTAGGATTACAAATGTGGGCCACTGTGCCCAGTCCCTATTGTCTATTTCTTTTTATGTCCTCCAAAGACAAAATGGTTCAACACTGTGTCGGTCCCATTCCCTTTCCAAGTTCACCTCCTGGATCTGAGGCTCTTACCCTCTCTCTCATCATCCGTTACGCCCATTCACTCAATCACTATTTGAGTCTACTATGGGCCAAGCACTGTTCAAGGACCTGGAGATGCAGCAATCAAAACAACCAACTAGAGTCCCTGCCTCATGGAGCTGACCTTCTGTGGGACTTCAGTCCCCAGACTTCACTTGTGAGACCACTTAACTGTCTCTAACTGGCTGCCCTACTCCTGCCCTGTTCCTGCCCTGCTCTGCTTTGAAGCCCTGTCTGTCTCAGGCTTTCCCCACTGTTGCTTATCTTTCACTGAAACACACACACACACACACACACTCAGGCTTTCCCCACTGTTGCTTATCTCTCTTTCACTGAAACACACACACACACACACACACACACACACACACACACACACACACACGCCCCTCCGATTTTAAACTGAGGCACAGCGCAGCAGGGTTCCAGGGCTCCTGCTACTCACTGCTTCTCGCTCCCGGTCCATGATAGTCTCCAGCTCCTCAAAGTGCCGAAGTTTGATCTCCAACTTTTTCATCTGGGTCTCCACCAGCAGGGCCACCAAAGATTTGATCTTCCTTTCCTCAACAGCAGCCAAGTGCTAGGGAAGGAGGGGCGAGACAGCACATCAGTGGGAGGACCCAACTGAAGACAATACAGAAGAAAGGTAGGGTGGATGCTGGCAGGTATAAGAACAAATTTGCTGTGGTCACAACCCATGGTGAAAGGGCTTGACTTTTTTGTGCTGGGATTATAGGCGTGAGCCACCGTGTCTTTTTTCTTTTTTCTTTTTTTTTTTTTGGGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGTAACCTCTACCTCCTGGGTTCAAGCAATTCTCGTGCCTTTGCCTCCCCAGTACCTGGGATTACAGACATGCGCCACCACGCCGGCTAATTTCTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTACAACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTCCTGGGATTACACGCGTGAGCCACTGCGCCCAGCCTTTTTAAAAAATTAAATTATTTTGGCCAGGTGTGATGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCTAAGGCGAGCAGATCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGGCAACAGGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAACCGGGCATGCTGGCACGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAATACATAAATAAATAAACAAGCATGGAGGCTGGGCACGGTGGCTCACGCCTGTAATTCCAGCAGTTTGGGAGGCCAAAGCGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAGAGTTAGCCAGGCGTGGTGTAGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGGAGGCTGCAGTGAGCCGAGATCTGACAGAGCAAGACTCCGTCTCAAAAGAAGAACATGGAGATAGTGTGGCAAAGGGTAACATGGAGTCAAATACTGACAGGGTTGAAAACAGGCCCAATGGTGATATATTTTTTAAAGCTTAGAGAAGGGATGACTAACTTTACCTCCTCCTGAGATAAAAATAAAAAATAAATAGGTCAGCATTATTTAAGGTGTGAGTGAGGAAAGATTTCCTCTAAGTGAGATGAGATTAGAGAAGTGGACATTTTCTTCCCTGAGGTCTTCAAGGTCTGGCCTCACCTTAGCTTTCACTGCGGCGGCGGCCAGGGCGGCGGCAGCAGCGGTGGAGAGGTTGCCCTCGCCAATGTCCCGCTCCACCTTTGTCTTCCTTTCCCCCTCAGACTCCACCACTTCCTTCAGCACTTCCTCCTGCCCTTCCTTTGGCTCCTTCTCCTTCTCAGGATCGACTGGGCCAGGACAAGGGTTGAGTTAGCCCCACAGCTTCACCTCTGTCCTGCACCCCCACCTACCCTTGTGGGAGGCTCACCTATTGGGTCTCCATCACTCTTCTCGGACTCCTTCTCACTGTCGCCTTCTTTCCCTTTCTCCTCATCCTTCTTGGGAGCCTCGCTGGTTTTCTCTTTTGCTTCCTCCTCTATAGCACCCCCTCCTTCTCGGGGTTCCTGAAATTCCAGTGATAGAAAAGGAGAGTTATCAGGGATTAGGGTGATTAGTTCTCACACAGAGGGGCCAGACGGGGAACTAAATTTATTCCTCTTACTTTGGAGGTGATCTGATTCTAGGAGACAACCCCGTCCAAAACCAGCCCTTGCCCACCTAAGCTGAACAAGGCCAACTTCCCCATCACCACAGTGCTGCACGCAGCCCCTGCAGCTTCCAGAAATCCCTCTATACCTTGGGCTCCTTCTTCTCATCTGTGGCCTGGCCTT
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TCATTTGCCTCTGAGCTTTAGCTTTATTCTATGATCTCAGGACTTAGAAACTTGATGTGCAATCTCTTTATTTTTTTGAGACTGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTAGCGTGATCTCAGCTCACTGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCAGCATGCCGGGCTAATTTTTTGTATTTTTTTATTCTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTTGATCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCGCGCCCGGCTGATGTGCAATCTCTTAATGTGAATTTGTCAGATACTTTAAACCTTCTTAACTGTTTCTGATGTCTCCATATTGTATATTCATTTGATGTCTCCCATTAAACCTTAAGTTCTCTGAGGTCCCTATCTTCTATTTCTTTTTCTTCTTTTTTTTTTTTTTGAGATAGGGTCTCACTCTGTCACCCAGGCTGGAATGCAATGGGGCAAACATGGCTCAGTGCAGCCTTGACCTCCTGGGCTCAAACGATCCTCCCACCTCAGCTTCCTGAGTAGCTGGGACCACAGGCTCGCACCACCACGCCCGGCTAATTTGTTTATTTTTAAAAAATGTTTGGGCTGGGCACGGTGGCTCATGCCTGAAATCCCAGCGCTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGTCATGGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGTGATTGCACCACTGCACTCCAGCCTGGGCGAAAGAGTAAGACTCCATCTCAAAAAAAAAAAAAAAAGCGTGATGACTCACCTGTAATCCGGCACTTTGGGAAGCAGAGATGGGCTGATCACCTGAGATCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTCCCAGGAGGCGGACGTTGTGGTGAGCGAAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAATAAATAAATAAATAAATAAATAAAATAAATTGTTGAGACAGAGATCTCACTATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCATCTGCCTCAGTGTACCAAAGTACTAGGATTACAAATGTGGGCCACTGTGCCCAGTCCCTATTGTCTATTTCTTTTTATGTCCTCCAAAGACAAAATGGTTCAACACTGTGTCGGTCCCATTCCCTTTCCAAGTTCACCTCCTGGATCTGAGGCTCTTACCCTCTCTCTCATCATCCGTTACGCCCATTCACTCAATCACTATTTGAGTCTACTATGGGCCAAGCACTGTTCAAGGACCTGGAGATGCAGCAATCAAAACAACCAACTAGAGTCCCTGCCTCATGGAGCTGACCTTCTGTGGGACTTCAGTCCCCAGACTTCACTTGTGAGACCACTTAACTGTCTCTAACTGGCTGCCCTACTCCTGCCCTGTTCCTGCCCTGCTCTGCTTTGAAGCCCTGTCTGTCTCAGGCTTTCCCCACTGTTGCTTATCTTTCACTGAAACACACACACACACACACACACTCAGGCTTTCCCCACTGTTGCTTATCTCTCTTTCACTGAAACACACACACACACACACACACACACACACACACACACACACACACACGCCCCTCCGATTTTAAACTGAGGCACAGCGCAGCAGGGTTCCAGGGCTCCTGCTACTCACTGCTTCTCGCTCCCGGTCCATGATAGTCTCCAGCTCCTCAAAGTGCCGAAGTTTGATCTCCAACTTTTTCACCTGGGTCTCCACCAGCAGGGCCACCAAAGATTTGATCTTCCTTTCCTCAACAGCAGCCAAGTGCTAGGGAAGGAGGGGCGAGACAGCACATCAGTGGGAGGACCCAACTGAAGACAATACAGAAGAAAGGTAGGGTGGATGCTGGCAGGTATAAGAACAAATTTGCTGTGGTCACAACCCATGGTGAAAGGGCTTGACTTTTTTGTGCTGGGATTATAGGCGTGAGCCACCGTGTCTTTTTTCTTTTTTCTTTTTTTTTTTTTGGGACAGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGTAACCTCTACCTCCTGGGTTCAAGCAATTCTCGTGCCTTTGCCTCCCCAGTACCTGGGATTACAGACATGCGCCACCACGCCGGCTAATTTCTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTACAACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTCCTGGGATTACACGCGTGAGCCACTGCGCCCAGCCTTTTTAAAAAATTAAATTATTTTGGCCAGGTGTGATGGCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCTAAGGCGAGCAGATCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGGCAACAGGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAACCGGGCATGCTGGCACGTGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAATACATAAATAAATAAACAAGCATGGAGGCTGGGCACGGTGGCTCACGCCTGTAATTCCAGCAGTTTGGGAGGCCAAAGCGGGTGGATCACCTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAGAGTTAGCCAGGCGTGGTGTAGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGGAGGCTGCAGTGAGCCGAGATCTGACAGAGCAAGACTCCGTCTCAAAAGAAGAACATGGAGATAGTGTGGCAAAGGGTAACATGGAGTCAAATACTGACAGGGTTGAAAACAGGCCCAATGGTGATATATTTTTTAAAGCTTAGAGAAGGGATGACTAACTTTACCTCCTCCTGAGATAAAAATAAAAAATAAATAGGTCAGCATTATTTAAGGTGTGAGTGAGGAAAGATTTCCTCTAAGTGAGATGAGATTAGAGAAGTGGACATTTTCTTCCCTGAGGTCTTCAAGGTCTGGCCTCACCTTAGCTTTCACTGCGGCGGCGGCCAGGGCGGCGGCAGCAGCGGTGGAGAGGTTGCCCTCGCCAATGTCCCGCTCCACCTTTGTCTTCCTTTCCCCCTCAGACTCCACCACTTCCTTCAGCACTTCCTCCTGCCCTTCCTTTGGCTCCTTCTCCTTCTCAGGATCGACTGGGCCAGGACAAGGGTTGAGTTAGCCCCACAGCTTCACCTCTGTCCTGCACCCCCACCTACCCTTGTGGGAGGCTCACCTATTGGGTCTCCATCACTCTTCTCGGACTCCTTCTCACTGTCGCCTTCTTTCCCTTTCTCCTCATCCTTCTTGGGAGCCTCGCTGGTTTTCTCTTTTGCTTCCTCCTCTATAGCACCCCCTCCTTCTCGGGGTTCCTGAAATTCCAGTGATAGAAAAGGAGAGTTATCAGGGATTAGGGTGATTAGTTCTCACACAGAGGGGCCAGACGGGGAACTAAATTTATTCCTCTTACTTTGGAGGTGATCTGATTCTAGGAGACAACCCCGTCCAAAACCAGCCCTTGCCCACCTAAGCTGAACAAGGCCAACTTCCCCATCACCACAGTGCTGCACGCAGCCCCTGCAGCTTCCAGAAATCCCTCTATACCTTGGGCTCCTTCTTCTCATCTGTGGCCTGGCCTT
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Task1_train_17981
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This mutation occurs in SMARCC2 (SWI/SNF related BAF chromatin remodeling complex subunit C2) on Chromosome 12. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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GTGAGCCGTTGCACCCAGCTTCTCCATAACACCTGTTTTTTTTTGTTTTTTGTTTTTTTGTGACAGGGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTAGCACAATCATGGCTCACTGCAGCCTTGACTTCCCAGGCTCAAGTGGTTCTCTCACCTCAGCCTCCTGTGTATCTGGGGCTACAGGCGCATGCCACCATGCCTGGCTAACTTTTTTGGTATTTTTTGTAGAGACGGGATTTTGCCATGTTGCCCAGACTGGTCTCAAACCATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCAGCCTTCACAAGACTTTTTTTTTTTTTTTTTTTTTTTTGAGAGACGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTTGGCTCACTGCAACCTCTGGCACCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCTGAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATATTTAGTAGAGACAGGGTTTCAGCATCTTGGCCAGGCTGGTCTTGAACTCCCGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCGGCCTTCACAAGACTTTTCTAACAGCCCCTTCTACAAGCAAAGATTTTTCTACCCAAAATCTTCATGAGAGGACTAGTAGGGCTCCAGAGCCCCTGAGGTAAACTCATGGGGAAAATAAAAACCCTACCAATGTTCTCATTCATGTTGTGCTCTAATGCCAACTTGAGGCAGAAATGGCACAGGAGGCCAGGTAGCTCTGGATCTTGTGAAAGGCAAGAAATCTGGGAACCTGCCTGGCCTTACCAATCCGCTCAGGCTCATCAGAGGTGGTTCCTGCAATGCCACTGCTTTCCAGACCGAAGGCAGGGTCCGCCTTGCCTGTTACTTTGGCTGCTTCTTCCACTTTTCGAACATGGGCCTCCACCAAGGCCGTGGGTACCTCTTCCTTCATTTTGGAGAACTCCTCTGCAAGACCCAGAAAGAATGAGGCTGGGAGCGGCACAGTGGAACAGTTCTGGCAATCCCTGCAAAAGCTTACTCACAAGCCCATGTCTTCATCTAAGCTAGTATGGAGCCTAGACAGGTGCCTGAGCTGAGGCCCGCACAGACAAGGCCAGCAGGGCAGCCAAACTTGAGAGGATTCACAGTCTGAGTAACTAGCCCTTCAAAAGCAAACTAAGAAGGCCAGGTGGAACCACCCACCCCCATTACCTAGGGCTGACTTTGCAGCAGCAGAGGCGACTCGGGGATCGACGACAGAGGCCAGGAAGGCAACAGTGCTCATAACAGGGTTGCCCGACTGACTGAAGGGGATGGGTTGGTAGGCCAGGGGGCCTAGGGAGGCCTCTGAGTCCTCCAGGTATGGGTCTTCAATGGGAAGACGAAGAAAATGCAAGATGCACTCGTCCTGTGTGCGGCTTCCCACATGCTCGGACACTTTGTTCCAGTCATCTTTGTACATTTCCAGTGCCTGGTGGTAGTGGTGGAGACATAACTCCGCTTACTTAGCCACTTTTCTCGAAGGCTGACTCCCCCCATCCTACTAAGGGCAGCTGGTTTCAAAGTTCTCTATGTTCTGGTATTTGTGTACTCTGCTAGGTCCAAGGGGGATCTTGAAGTAGCACTAAGAAAGGATATGAAGTTAATGAAATGGCCCAAATCCCCAGCCTGGAGCTGGTCCTGAAGCTCACTGGAGCCTTGACCTCCTAGGCTCAAGCAATCCTCCCACTTAGCCTCCTGAGTAGCTGGGACCACAGGTGTGTGCCACCACACCTGGCTAATTTTTAAAATTTTTCGTAGAGACGGAGTCTCACTATGTTGCCCAGGTTCATCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCTCTACACGGAGCCCACTTCTGTTTTCAGAGAAAAACTCTCTTTTCTTTGCCCCAATTACCTCCAGGAGAAGCAGGGTTTCCTGTTCTGTCCACTCACGAGTGGCACTGGCTGCAGCCTTGCTCTGCAGGGGAAACACAGGCAGGTGAGAAGAAAGGAGCCTGTGACCTCTGAGGAGCGAACATTCTCTACCCCTAGAGTCGGCCCGCACCTCCTACCTTGGAGGGAACATTCTTTTTTGTGTACATGTCTGTGCGCAGCCCAAAGTTTTGCATGTCTGTTGGTTTCTCTTTGCCTTTGTCAGGAAAGTTGAGCATTTGTTGGGAAGCAGAGGTCTGCTATTTGTGGAGGGAAAGAAACAGGTGAGTACAAGTGACCACCGGGAGCCAGGGGCTGACAGAGAGAAAAAACAGACAGAAGGAGCTTCTTTCCCAAAGCCAGGGACACCCCTGGGTGGGACTTCCTCCCTTACTGCTGTAGTTCCTCTGCTCTCATGTCTCTTCTTCCCGGGCAGGGGCCCCCCAATAAAGGGGAAAATGAGCAGCCCAGCAGGGTCTGCACCCCACCTACCAGCTCTGGCTTGCCCTTAGCCGTCTCTGGCACCAGGTCATCCAGCTCTTTGCCCTTTCGCCCAGCCTTGGTATCAGCATCAACCTGGCGGCCCTGGGGGACAGAGCTTGGCGTCATGGAGGCTGGGCAGGAAATGACCAGGCCAAGGCCCTGGAGGCCTCAAGACCATATGCTGGGCGGCCCACAAGCTCTGGGGGCACTCATGCCACTGTTCCATGTTCCCTTCATGATTAATAAGACATGTCGTTGGCATGATATCCATACATATTCACATTATCTTTATAGGTTCTCTTAGGAGCTGGACAATTAGGTTCTAATCCTAGATTTGGTACTCTGTGACCTTGGGCAAGCCACATAACCTTCTTCCTAATTTTTGTAATGGATGAAGTGGAAATGGAAAAAAAAATGAAGATGATAATTATGAGGCAAAAATGAAAAAATGTGGCAAAGATGACAAAGTTTAAAAATTTCATGCAAGTTAATTTTAAGCCATTTTTCTCTATTGACTCCCCTACATTAGCCTGTCTACTCCTTGAGTAAAAGGATAATCTCTTCTCCCTCAGCAATTACAGCCTTAGGTACAAAGGCTGAGAGAGGATGCTAAACACATGGGGCTGATTCCCGTGACCCTTTGCATCCCATGGAAAAGGAAGAAGCCTCAAAACACTCCTGAACCATTACCCTAAAAACCAGAAAAAGAAAAGTTCAAAGAAGCCCAATCTTCCCAACCCGCCCCATCCCCATAGCACCTCACCCTACCTGAGGTGTCTTGGGCTGCAGAGGCACCAGCCCTGATGGTGTGTCAGCCAAGACATGGAAGTGAGAGGTAGGCGGAGGCCCCATTGGGGTTGGTCGACTCTCAGCATCCACCTGGTAGTTAATAAGACCCCACTGTTCTAGGAAGGCATGGACCCTGTGCAGAGAGAGGCAGAGACAGGGTCACACGGATAGCCAGAAAGGTGCACGAGGAAGAGGAAAAGTGGGGGGTAGAAGGGGCATAAACCCCCTCCCCACCCAACCCCGGCCTTTTCCTCTGTTCATTGTACTCCTTAAGAAATCTCACCTACTCCAGTTGTTCATTTATCACCTAAATGCCAGTGACACCCAAGTCTACATCTTCAGCCTGGGCCAATCTCTATATCTACCTACCTACCGAACATTTCTTCCTGAATAGCTAGTAAAACTGAACCAGTTTCTTTCTTTTTTTCCCTAAGAGAGACTGAAGTGCAGTGGTGTGATCACCGCTCACTGCAGCCTCCACCTCCAGGGCTCAGGGGATCCTCCCACCTCAGCCTCCTGAGTCACTAAGACCACAGGCACGTGCCACCATGCCTAGCTAATTTTTTTGCATTTTCTCTAGAGATGGGGTTTTGCCATTTTGTCCAGGCTGGTCTCGAACTTCTGGGCTCCAGCAATCCTCCCACCTTGGTCTCCCAAAATGTTTGGATTATAGGCATGAGCCACCACACCTGGCCTGAACCAGTATCTTTCAATTACAGACATGCTCCTTCTTTGTCCTATATTCTACACTTCAGAGAATGCC
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GTGAGCCGTTGCACCCAGCTTCTCCATAACACCTGTTTTTTTTTGTTTTTTGTTTTTTTGTGACAGGGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTAGCACAATCATGGCTCACTGCAGCCTTGACTTCCCAGGCTCAAGTGGTTCTCTCACCTCAGCCTCCTGTGTATCTGGGGCTACAGGCGCATGCCACCATGCCTGGCTAACTTTTTTGGTATTTTTTGTAGAGACGGGATTTTGCCATGTTGCCCAGACTGGTCTCAAACCATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCAGCCTTCACAAGACTTTTTTTTTTTTTTTTTTTTTTTTGAGAGACGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTTGGCTCACTGCAACCTCTGGCACCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCTGAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATATTTAGTAGAGACAGGGTTTCAGCATCTTGGCCAGGCTGGTCTTGAACTCCCGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCGGCCTTCACAAGACTTTTCTAACAGCCCCTTCTACAAGCAAAGATTTTTCTACCCAAAATCTTCATGAGAGGACTAGTAGGGCTCCAGAGCCCCTGAGGTAAACTCATGGGGAAAATAAAAACCCTACCAATGTTCTCATTCATGTTGTGCTCTAATGCCAACTTGAGGCAGAAATGGCACAGGAGGCCAGGTAGCTCTGGATCTTGTGAAAGGCAAGAAATCTGGGAACCTGCCTGGCCTTACCAATCCGCTCAGGCTCATCAGAGGTGGTTCCTGCAATGCCACTGCTTTCCAGACCGAAGGCAGGGTCCGCCTTGCCTGTTACTTTGGCTGCTTCTTCCACTTTTCGAACATGGGCCTCCACCAAGGCCGTGGGTACCTCTTCCTTCATTTTGGAGAACTCCTCTGCAAGACCCAGAAAGAATGAGGCTGGGAGCGGCACAGTGGAACAGTTCTGGCAATCCCTGCAAAAGCTTACTCACAAGCCCATGTCTTCATCTAAGCTAGTATGGAGCCTAGACAGGTGCCTGAGCTGAGGCCCGCACAGACAAGGCCAGCAGGGCAGCCAAACTTGAGAGGATTCACAGTCTGAGTAACTAGCCCTTCAAAAGCAAACTAAGAAGGCCAGGTGGAACCACCCACCCCCATTACCTAGGGCTGACTTTGCAGCAGCAGAGGCGACTCGGGGATCGACGACAGAGGCCAGGAAGGCAACAGTGCTCATAACAGGGTTGCCCGACTGACTGAAGGGGATGGGTTGGTAGGCCAGGGGGCCTAGGGAGGCCTCTGAGTCCTCCAGGTATGGGTCTTCAATGGGAAGACGAAGAAAATGCAAGATGCACTCGTCCTGTGTGCGGCTTCCCACATGCTCGGACACTTTGTTCCAGTCATCTTTGTACATTTCCAGTGCCTGGTGGTAGTGGTGGAGACATAACTCCGCTTACTTAGCCACTTTTCTCGAAGGCTGACTCCCCCCATCCTACTAAGGGCAGCTGGTTTCAAAGTTCTCTATGTTCTGGTATTTGTGTACTCTGCTAGGTCCAAGGGGGATCTTGAAGTAGCACTAAGAAAGGATATGAAGTTAATGAAATGGCCCAAATCCCCAGCCTGGAGCTGGTCCTGAAGCTCACTGGAGCCTTGACCTCCTAGGCTCAAGCAATCCTCCCACTTAGCCTCCTGAGTAGCTGGGACCACAGGTGTGTGCCACCACACCTGGCTAATTTTTAAAATTTTTCGTAGAGACGGAGTCTCACTATGTTGCCCAGGTTCATCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCTCTACACGGAGCCCACTTCTGTTTTCAGAGAAAAACTCTCTTTTCTTTGCCCCAATTACCTCCGGGAGAAGCAGGGTTTCCTGTTCTGTCCACTCACGAGTGGCACTGGCTGCAGCCTTGCTCTGCAGGGGAAACACAGGCAGGTGAGAAGAAAGGAGCCTGTGACCTCTGAGGAGCGAACATTCTCTACCCCTAGAGTCGGCCCGCACCTCCTACCTTGGAGGGAACATTCTTTTTTGTGTACATGTCTGTGCGCAGCCCAAAGTTTTGCATGTCTGTTGGTTTCTCTTTGCCTTTGTCAGGAAAGTTGAGCATTTGTTGGGAAGCAGAGGTCTGCTATTTGTGGAGGGAAAGAAACAGGTGAGTACAAGTGACCACCGGGAGCCAGGGGCTGACAGAGAGAAAAAACAGACAGAAGGAGCTTCTTTCCCAAAGCCAGGGACACCCCTGGGTGGGACTTCCTCCCTTACTGCTGTAGTTCCTCTGCTCTCATGTCTCTTCTTCCCGGGCAGGGGCCCCCCAATAAAGGGGAAAATGAGCAGCCCAGCAGGGTCTGCACCCCACCTACCAGCTCTGGCTTGCCCTTAGCCGTCTCTGGCACCAGGTCATCCAGCTCTTTGCCCTTTCGCCCAGCCTTGGTATCAGCATCAACCTGGCGGCCCTGGGGGACAGAGCTTGGCGTCATGGAGGCTGGGCAGGAAATGACCAGGCCAAGGCCCTGGAGGCCTCAAGACCATATGCTGGGCGGCCCACAAGCTCTGGGGGCACTCATGCCACTGTTCCATGTTCCCTTCATGATTAATAAGACATGTCGTTGGCATGATATCCATACATATTCACATTATCTTTATAGGTTCTCTTAGGAGCTGGACAATTAGGTTCTAATCCTAGATTTGGTACTCTGTGACCTTGGGCAAGCCACATAACCTTCTTCCTAATTTTTGTAATGGATGAAGTGGAAATGGAAAAAAAAATGAAGATGATAATTATGAGGCAAAAATGAAAAAATGTGGCAAAGATGACAAAGTTTAAAAATTTCATGCAAGTTAATTTTAAGCCATTTTTCTCTATTGACTCCCCTACATTAGCCTGTCTACTCCTTGAGTAAAAGGATAATCTCTTCTCCCTCAGCAATTACAGCCTTAGGTACAAAGGCTGAGAGAGGATGCTAAACACATGGGGCTGATTCCCGTGACCCTTTGCATCCCATGGAAAAGGAAGAAGCCTCAAAACACTCCTGAACCATTACCCTAAAAACCAGAAAAAGAAAAGTTCAAAGAAGCCCAATCTTCCCAACCCGCCCCATCCCCATAGCACCTCACCCTACCTGAGGTGTCTTGGGCTGCAGAGGCACCAGCCCTGATGGTGTGTCAGCCAAGACATGGAAGTGAGAGGTAGGCGGAGGCCCCATTGGGGTTGGTCGACTCTCAGCATCCACCTGGTAGTTAATAAGACCCCACTGTTCTAGGAAGGCATGGACCCTGTGCAGAGAGAGGCAGAGACAGGGTCACACGGATAGCCAGAAAGGTGCACGAGGAAGAGGAAAAGTGGGGGGTAGAAGGGGCATAAACCCCCTCCCCACCCAACCCCGGCCTTTTCCTCTGTTCATTGTACTCCTTAAGAAATCTCACCTACTCCAGTTGTTCATTTATCACCTAAATGCCAGTGACACCCAAGTCTACATCTTCAGCCTGGGCCAATCTCTATATCTACCTACCTACCGAACATTTCTTCCTGAATAGCTAGTAAAACTGAACCAGTTTCTTTCTTTTTTTCCCTAAGAGAGACTGAAGTGCAGTGGTGTGATCACCGCTCACTGCAGCCTCCACCTCCAGGGCTCAGGGGATCCTCCCACCTCAGCCTCCTGAGTCACTAAGACCACAGGCACGTGCCACCATGCCTAGCTAATTTTTTTGCATTTTCTCTAGAGATGGGGTTTTGCCATTTTGTCCAGGCTGGTCTCGAACTTCTGGGCTCCAGCAATCCTCCCACCTTGGTCTCCCAAAATGTTTGGATTATAGGCATGAGCCACCACACCTGGCCTGAACCAGTATCTTTCAATTACAGACATGCTCCTTCTTTGTCCTATATTCTACACTTCAGAGAATGCC
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Task1_train_17982
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Gene SMARCC2 (SWI/SNF related BAF chromatin remodeling complex subunit C2) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; SMARCC2-related BAFopathy
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AGCCGTTGCACCCAGCTTCTCCATAACACCTGTTTTTTTTTGTTTTTTGTTTTTTTGTGACAGGGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTAGCACAATCATGGCTCACTGCAGCCTTGACTTCCCAGGCTCAAGTGGTTCTCTCACCTCAGCCTCCTGTGTATCTGGGGCTACAGGCGCATGCCACCATGCCTGGCTAACTTTTTTGGTATTTTTTGTAGAGACGGGATTTTGCCATGTTGCCCAGACTGGTCTCAAACCATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCAGCCTTCACAAGACTTTTTTTTTTTTTTTTTTTTTTTTGAGAGACGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTTGGCTCACTGCAACCTCTGGCACCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCTGAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATATTTAGTAGAGACAGGGTTTCAGCATCTTGGCCAGGCTGGTCTTGAACTCCCGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCGGCCTTCACAAGACTTTTCTAACAGCCCCTTCTACAAGCAAAGATTTTTCTACCCAAAATCTTCATGAGAGGACTAGTAGGGCTCCAGAGCCCCTGAGGTAAACTCATGGGGAAAATAAAAACCCTACCAATGTTCTCATTCATGTTGTGCTCTAATGCCAACTTGAGGCAGAAATGGCACAGGAGGCCAGGTAGCTCTGGATCTTGTGAAAGGCAAGAAATCTGGGAACCTGCCTGGCCTTACCAATCCGCTCAGGCTCATCAGAGGTGGTTCCTGCAATGCCACTGCTTTCCAGACCGAAGGCAGGGTCCGCCTTGCCTGTTACTTTGGCTGCTTCTTCCACTTTTCGAACATGGGCCTCCACCAAGGCCGTGGGTACCTCTTCCTTCATTTTGGAGAACTCCTCTGCAAGACCCAGAAAGAATGAGGCTGGGAGCGGCACAGTGGAACAGTTCTGGCAATCCCTGCAAAAGCTTACTCACAAGCCCATGTCTTCATCTAAGCTAGTATGGAGCCTAGACAGGTGCCTGAGCTGAGGCCCGCACAGACAAGGCCAGCAGGGCAGCCAAACTTGAGAGGATTCACAGTCTGAGTAACTAGCCCTTCAAAAGCAAACTAAGAAGGCCAGGTGGAACCACCCACCCCCATTACCTAGGGCTGACTTTGCAGCAGCAGAGGCGACTCGGGGATCGACGACAGAGGCCAGGAAGGCAACAGTGCTCATAACAGGGTTGCCCGACTGACTGAAGGGGATGGGTTGGTAGGCCAGGGGGCCTAGGGAGGCCTCTGAGTCCTCCAGGTATGGGTCTTCAATGGGAAGACGAAGAAAATGCAAGATGCACTCGTCCTGTGTGCGGCTTCCCACATGCTCGGACACTTTGTTCCAGTCATCTTTGTACATTTCCAGTGCCTGGTGGTAGTGGTGGAGACATAACTCCGCTTACTTAGCCACTTTTCTCGAAGGCTGACTCCCCCCATCCTACTAAGGGCAGCTGGTTTCAAAGTTCTCTATGTTCTGGTATTTGTGTACTCTGCTAGGTCCAAGGGGGATCTTGAAGTAGCACTAAGAAAGGATATGAAGTTAATGAAATGGCCCAAATCCCCAGCCTGGAGCTGGTCCTGAAGCTCACTGGAGCCTTGACCTCCTAGGCTCAAGCAATCCTCCCACTTAGCCTCCTGAGTAGCTGGGACCACAGGTGTGTGCCACCACACCTGGCTAATTTTTAAAATTTTTCGTAGAGACGGAGTCTCACTATGTTGCCCAGGTTCATCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCTCTACACGGAGCCCACTTCTGTTTTCAGAGAAAAACTCTCTTTTCTTTGCCCCAATTACCTCCAGGAGAAGCAGGGTTTCCTGTTCTGTCCACTCACGAGTGGCACTGGCTGCAGCCTTGCTCTGCAGGGGAAACACAGGCAGGTGAGAAGAAAGGAGCCTGTGACCTCTGAGGAGCGAACATTCTCTACCCCTAGAGTCGGCCCGCACCTCCTACCTTGGAGGGAACATTCTTTTTTGTGTACATGTCTGTGCGCAGCCCAAAGTTTTGCATGTCTGTTGGTTTCTCTTTGCCTTTGTCAGGAAAGTTGAGCATTTGTTGGGAAGCAGAGGTCTGCTATTTGTGGAGGGAAAGAAACAGGTGAGTACAAGTGACCACCGGGAGCCAGGGGCTGACAGAGAGAAAAAACAGACAGAAGGAGCTTCTTTCCCAAAGCCAGGGACACCCCTGGGTGGGACTTCCTCCCTTACTGCTGTAGTTCCTCTGCTCTCATGTCTCTTCTTCCCGGGCAGGGGCCCCCCAATAAAGGGGAAAATGAGCAGCCCAGCAGGGTCTGCACCCCACCTACCAGCTCTGGCTTGCCCTTAGCCGTCTCTGGCACCAGGTCATCCAGCTCTTTGCCCTTTCGCCCAGCCTTGGTATCAGCATCAACCTGGCGGCCCTGGGGGACAGAGCTTGGCGTCATGGAGGCTGGGCAGGAAATGACCAGGCCAAGGCCCTGGAGGCCTCAAGACCATATGCTGGGCGGCCCACAAGCTCTGGGGGCACTCATGCCACTGTTCCATGTTCCCTTCATGATTAATAAGACATGTCGTTGGCATGATATCCATACATATTCACATTATCTTTATAGGTTCTCTTAGGAGCTGGACAATTAGGTTCTAATCCTAGATTTGGTACTCTGTGACCTTGGGCAAGCCACATAACCTTCTTCCTAATTTTTGTAATGGATGAAGTGGAAATGGAAAAAAAAATGAAGATGATAATTATGAGGCAAAAATGAAAAAATGTGGCAAAGATGACAAAGTTTAAAAATTTCATGCAAGTTAATTTTAAGCCATTTTTCTCTATTGACTCCCCTACATTAGCCTGTCTACTCCTTGAGTAAAAGGATAATCTCTTCTCCCTCAGCAATTACAGCCTTAGGTACAAAGGCTGAGAGAGGATGCTAAACACATGGGGCTGATTCCCGTGACCCTTTGCATCCCATGGAAAAGGAAGAAGCCTCAAAACACTCCTGAACCATTACCCTAAAAACCAGAAAAAGAAAAGTTCAAAGAAGCCCAATCTTCCCAACCCGCCCCATCCCCATAGCACCTCACCCTACCTGAGGTGTCTTGGGCTGCAGAGGCACCAGCCCTGATGGTGTGTCAGCCAAGACATGGAAGTGAGAGGTAGGCGGAGGCCCCATTGGGGTTGGTCGACTCTCAGCATCCACCTGGTAGTTAATAAGACCCCACTGTTCTAGGAAGGCATGGACCCTGTGCAGAGAGAGGCAGAGACAGGGTCACACGGATAGCCAGAAAGGTGCACGAGGAAGAGGAAAAGTGGGGGGTAGAAGGGGCATAAACCCCCTCCCCACCCAACCCCGGCCTTTTCCTCTGTTCATTGTACTCCTTAAGAAATCTCACCTACTCCAGTTGTTCATTTATCACCTAAATGCCAGTGACACCCAAGTCTACATCTTCAGCCTGGGCCAATCTCTATATCTACCTACCTACCGAACATTTCTTCCTGAATAGCTAGTAAAACTGAACCAGTTTCTTTCTTTTTTTCCCTAAGAGAGACTGAAGTGCAGTGGTGTGATCACCGCTCACTGCAGCCTCCACCTCCAGGGCTCAGGGGATCCTCCCACCTCAGCCTCCTGAGTCACTAAGACCACAGGCACGTGCCACCATGCCTAGCTAATTTTTTTGCATTTTCTCTAGAGATGGGGTTTTGCCATTTTGTCCAGGCTGGTCTCGAACTTCTGGGCTCCAGCAATCCTCCCACCTTGGTCTCCCAAAATGTTTGGATTATAGGCATGAGCCACCACACCTGGCCTGAACCAGTATCTTTCAATTACAGACATGCTCCTTCTTTGTCCTATATTCTACACTTCAGAGAATGCCATT
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AGCCGTTGCACCCAGCTTCTCCATAACACCTGTTTTTTTTTGTTTTTTGTTTTTTTGTGACAGGGTCTCACTCTTGTCGCCCAGGCTGGAGTGCAGTAGCACAATCATGGCTCACTGCAGCCTTGACTTCCCAGGCTCAAGTGGTTCTCTCACCTCAGCCTCCTGTGTATCTGGGGCTACAGGCGCATGCCACCATGCCTGGCTAACTTTTTTGGTATTTTTTGTAGAGACGGGATTTTGCCATGTTGCCCAGACTGGTCTCAAACCATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACTGCACCCAGCCTTCACAAGACTTTTTTTTTTTTTTTTTTTTTTTTGAGAGACGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTTGGCTCACTGCAACCTCTGGCACCCAGGTTTAAGTGATTCTCCTGCCTCAGCCTCTGAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATATTTAGTAGAGACAGGGTTTCAGCATCTTGGCCAGGCTGGTCTTGAACTCCCGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCGGCCTTCACAAGACTTTTCTAACAGCCCCTTCTACAAGCAAAGATTTTTCTACCCAAAATCTTCATGAGAGGACTAGTAGGGCTCCAGAGCCCCTGAGGTAAACTCATGGGGAAAATAAAAACCCTACCAATGTTCTCATTCATGTTGTGCTCTAATGCCAACTTGAGGCAGAAATGGCACAGGAGGCCAGGTAGCTCTGGATCTTGTGAAAGGCAAGAAATCTGGGAACCTGCCTGGCCTTACCAATCCGCTCAGGCTCATCAGAGGTGGTTCCTGCAATGCCACTGCTTTCCAGACCGAAGGCAGGGTCCGCCTTGCCTGTTACTTTGGCTGCTTCTTCCACTTTTCGAACATGGGCCTCCACCAAGGCCGTGGGTACCTCTTCCTTCATTTTGGAGAACTCCTCTGCAAGACCCAGAAAGAATGAGGCTGGGAGCGGCACAGTGGAACAGTTCTGGCAATCCCTGCAAAAGCTTACTCACAAGCCCATGTCTTCATCTAAGCTAGTATGGAGCCTAGACAGGTGCCTGAGCTGAGGCCCGCACAGACAAGGCCAGCAGGGCAGCCAAACTTGAGAGGATTCACAGTCTGAGTAACTAGCCCTTCAAAAGCAAACTAAGAAGGCCAGGTGGAACCACCCACCCCCATTACCTAGGGCTGACTTTGCAGCAGCAGAGGCGACTCGGGGATCGACGACAGAGGCCAGGAAGGCAACAGTGCTCATAACAGGGTTGCCCGACTGACTGAAGGGGATGGGTTGGTAGGCCAGGGGGCCTAGGGAGGCCTCTGAGTCCTCCAGGTATGGGTCTTCAATGGGAAGACGAAGAAAATGCAAGATGCACTCGTCCTGTGTGCGGCTTCCCACATGCTCGGACACTTTGTTCCAGTCATCTTTGTACATTTCCAGTGCCTGGTGGTAGTGGTGGAGACATAACTCCGCTTACTTAGCCACTTTTCTCGAAGGCTGACTCCCCCCATCCTACTAAGGGCAGCTGGTTTCAAAGTTCTCTATGTTCTGGTATTTGTGTACTCTGCTAGGTCCAAGGGGGATCTTGAAGTAGCACTAAGAAAGGATATGAAGTTAATGAAATGGCCCAAATCCCCAGCCTGGAGCTGGTCCTGAAGCTCACTGGAGCCTTGACCTCCTAGGCTCAAGCAATCCTCCCACTTAGCCTCCTGAGTAGCTGGGACCACAGGTGTGTGCCACCACACCTGGCTAATTTTTAAAATTTTTCGTAGAGACGGAGTCTCACTATGTTGCCCAGGTTCATCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCTCTACACGGAGCCCACTTCTGTTTTCAGAGAAAAACTCTCTTTTCTTTGCCCCAATTACCTCCAGGGGAAGCAGGGTTTCCTGTTCTGTCCACTCACGAGTGGCACTGGCTGCAGCCTTGCTCTGCAGGGGAAACACAGGCAGGTGAGAAGAAAGGAGCCTGTGACCTCTGAGGAGCGAACATTCTCTACCCCTAGAGTCGGCCCGCACCTCCTACCTTGGAGGGAACATTCTTTTTTGTGTACATGTCTGTGCGCAGCCCAAAGTTTTGCATGTCTGTTGGTTTCTCTTTGCCTTTGTCAGGAAAGTTGAGCATTTGTTGGGAAGCAGAGGTCTGCTATTTGTGGAGGGAAAGAAACAGGTGAGTACAAGTGACCACCGGGAGCCAGGGGCTGACAGAGAGAAAAAACAGACAGAAGGAGCTTCTTTCCCAAAGCCAGGGACACCCCTGGGTGGGACTTCCTCCCTTACTGCTGTAGTTCCTCTGCTCTCATGTCTCTTCTTCCCGGGCAGGGGCCCCCCAATAAAGGGGAAAATGAGCAGCCCAGCAGGGTCTGCACCCCACCTACCAGCTCTGGCTTGCCCTTAGCCGTCTCTGGCACCAGGTCATCCAGCTCTTTGCCCTTTCGCCCAGCCTTGGTATCAGCATCAACCTGGCGGCCCTGGGGGACAGAGCTTGGCGTCATGGAGGCTGGGCAGGAAATGACCAGGCCAAGGCCCTGGAGGCCTCAAGACCATATGCTGGGCGGCCCACAAGCTCTGGGGGCACTCATGCCACTGTTCCATGTTCCCTTCATGATTAATAAGACATGTCGTTGGCATGATATCCATACATATTCACATTATCTTTATAGGTTCTCTTAGGAGCTGGACAATTAGGTTCTAATCCTAGATTTGGTACTCTGTGACCTTGGGCAAGCCACATAACCTTCTTCCTAATTTTTGTAATGGATGAAGTGGAAATGGAAAAAAAAATGAAGATGATAATTATGAGGCAAAAATGAAAAAATGTGGCAAAGATGACAAAGTTTAAAAATTTCATGCAAGTTAATTTTAAGCCATTTTTCTCTATTGACTCCCCTACATTAGCCTGTCTACTCCTTGAGTAAAAGGATAATCTCTTCTCCCTCAGCAATTACAGCCTTAGGTACAAAGGCTGAGAGAGGATGCTAAACACATGGGGCTGATTCCCGTGACCCTTTGCATCCCATGGAAAAGGAAGAAGCCTCAAAACACTCCTGAACCATTACCCTAAAAACCAGAAAAAGAAAAGTTCAAAGAAGCCCAATCTTCCCAACCCGCCCCATCCCCATAGCACCTCACCCTACCTGAGGTGTCTTGGGCTGCAGAGGCACCAGCCCTGATGGTGTGTCAGCCAAGACATGGAAGTGAGAGGTAGGCGGAGGCCCCATTGGGGTTGGTCGACTCTCAGCATCCACCTGGTAGTTAATAAGACCCCACTGTTCTAGGAAGGCATGGACCCTGTGCAGAGAGAGGCAGAGACAGGGTCACACGGATAGCCAGAAAGGTGCACGAGGAAGAGGAAAAGTGGGGGGTAGAAGGGGCATAAACCCCCTCCCCACCCAACCCCGGCCTTTTCCTCTGTTCATTGTACTCCTTAAGAAATCTCACCTACTCCAGTTGTTCATTTATCACCTAAATGCCAGTGACACCCAAGTCTACATCTTCAGCCTGGGCCAATCTCTATATCTACCTACCTACCGAACATTTCTTCCTGAATAGCTAGTAAAACTGAACCAGTTTCTTTCTTTTTTTCCCTAAGAGAGACTGAAGTGCAGTGGTGTGATCACCGCTCACTGCAGCCTCCACCTCCAGGGCTCAGGGGATCCTCCCACCTCAGCCTCCTGAGTCACTAAGACCACAGGCACGTGCCACCATGCCTAGCTAATTTTTTTGCATTTTCTCTAGAGATGGGGTTTTGCCATTTTGTCCAGGCTGGTCTCGAACTTCTGGGCTCCAGCAATCCTCCCACCTTGGTCTCCCAAAATGTTTGGATTATAGGCATGAGCCACCACACCTGGCCTGAACCAGTATCTTTCAATTACAGACATGCTCCTTCTTTGTCCTATATTCTACACTTCAGAGAATGCCATT
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Task1_train_17983
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Consider this mutation in SLC39A5 (solute carrier family 39 member 5) on Chromosome 12. Is this a benign change or a disease-causing variant?
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Pathogenic; Myopia 24, autosomal dominant
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TAGAGAAGCAGCCCAGGGTAGGATCTGGATGGTCACCTGGAGAGGAGACCTGCAGGGAATGGATGGCTGTCTTCATCCAGAAAGACAGAGAATATATTCCACTTACACCAGAGGGCAGACAAAGCTGCCTAACCCTGATGGAGGTCCAGTGAGTGCCCATTGCAGGAAGCATTCAAGCTGAGGCTGGATGAACATCGACAGGGCTGTTGAGAGGGAGATTAGATGGCATTTCAGGGTCTTTTCCCTTTTAAGATTCTGGCATGGAGAGCTCTAGTTTTCCAACCAGCTTCATTTATCAAATCAACAAAATGATTGAAATGATCAGAGTTTGCAGGGAAGATGATGACAATGCTCACTAGCACCCAGTTTGCATCAAATTGAATACCTGCATTGGACTGAATATTCACTAATAATACACATTGATTATAAGTACCCTTGGCCCTAGTCCCCAAGGTACCTGCCAGTAGGAGCAAAGGGGACCCTGGGAGAGACCCAGGAGTCTATGCAATGGAAGGACAGGTGTTAAATATATATATATATATTTTTTTGAGGTAGAGTCTGACTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTAAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGTTCACTACTATCCCCAGCTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATCACAGGTGCACGCCACCATGCCCAGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTCATCCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGATGATACACCCGCCTGGGCCTCTCAAGGGCTGGGATTATAGGTGTGAGCCACTACACCTGGCCAGGTGTTAAAGATCTGAGTCATAGTTCCTGGTGATTCTCCAATGTATGACCCTCAATTCTCCAGTGTCTGAACGGCTCCCAGCTGCTGGTCAATTTTGGCTTGAGCCCCGCTGCTCCTCTGACCCCTCGTCAGTTTGCTCTGCTGTGCCCAGCCCTGCTTTATCAGATCGACAGCCGCGTCTGCATCGGCGCTCCGGCCCCTGCACCCCCAGGGGATCTACTATCTGGTCAGCAAGTAGGAGTGGGTGGGGGACACCCTGAATCCTGGAAGTGGGGCCCATGCCAAAAAGGAGGCTCACTGGGGTCCTGCCTCTCCTTGTAGTGTTCTCTCTGCTCCACCTTACGTGTGGGACCCTCCTCTTGCCCTGACCTAACTTCAGCCCCTGATTCTCCCCAGCCCTGCTTCAGAGTGCCCTGGCAGTCCTGTTGCTCAGCCTCCCTTCTCCCCTATCCCTGCTGCTGCTGCGGCTCCTGGGACCTCGTCTACTACGGCCCTTGCTGGGCTTCCTGGGGGCCCTGGCGGTGGGCACTCTTTGTGGGGATGCACTGCTACATCTGCTACCGCATGTATGTGAAGCCCCTTCCTTGTACCCCTGGCCTCCATGGATCTAAGGTGTCCCCAGCCATAGGACATCCCCTCCGCCTTTCCATCAGCTCCCATATCCTACTCCCAGATCCTGGCTTCAGCCCACAGCTGCCTTCTAGTAGAGCATATGAGCGAAGGCTTGCCACAATCCATGCAAGGGGATGTTGTTGGGTATAGGGGCTTCCAGAGTCTGCCCTGACCTTCTCTCTGTCAGGCACAAGAAGGGCGGCACGCAGGACCTGGCGGACTACCAGAGAAGGACCTGGGCCCGGGGCTGTCAGTGCTCGGAGGCCTCTTCCTGCTCTTTGTGCTGGAGAACATGCTGGGGCTTTTGCGGCACCGAGGGCTCAGGCCAGTGAGTGATACCCTTTTCTCCTCCTTCTGCTGAGACCAGAGTCCCAGTCAAGAACTGGGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGCCCAAGGCGGGCAGATCACAAGGTTAGGAGTTCGAGTCCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGACTTGGGAGGTGGAGGTTGCAGCGAGCTAAGATGGCACCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCCATCTCAAAAACAACAACAACAACAACAAAACTGGGCCAAAAAGCCAAGAGATGAGGAGCAGTGTGTGCTCCTGGATCTCTGACATTTGCCTGGTGTGCAGGACCTATCGGCTAACAGGGAGTGGGTAGGGGCTCCTTAAGCACAGACCCAGGACTTCTGGCCAAATGGCATCCTATTCTGAGCTCAAGTCAACAAGAAACAGAGGGGAGGTGCCAACTTGGGAAGAAGGTAGAGGCCAAAGAACATCCCAGGTGCCAGAGGTGGAACCAGGTGTTCATCTTCCCAGCTTGTGGCCTGGCTTCCCCTTAGTCCCTGGCTCTGCTGCCTCCTCCACCAGGAGGGATGCCCTCCTATTTCAGAGATGCTGCAGGCGAAAACGAAGGAATCTCGAAACACGCAACTTGGATCCGGAGAATGGCAGTGGGATGGCCCTTCAGCCCCTACAGGCAGCTCCAGGTGACTAGAGGAGAAAATTTGAAGAGTAGGTTCCAAGCTCACAGTCCTTACTTGCAGCCACCAACACTGTCCTGTGCTTCTTCCCGCAGAGCCAGGGGCTCAGGGCCAGAGGGAGAAGAACAGCCAGCACCCACCAGCTCTGGCCCCTCCTGGGCACCAAGGCCACAGTCATGGGCACCAGGGTGGCACTGATATCACGTGGATGGTCCTCCTGGGAGATGGTCTACACAACCTCACTGATGGGCTGGCCATAGGTGTGAGGGGTGGGAACGGAGGGAAGCAGGTCCGAGGGGAGGCCAGGGCTCCTAGTTATCAGCTGGGGCTAGGAGAGGGCCGTCAGGAAGATGGGGAGAGGACGGGAGGACCACGGAACACAGGAACCTGCTTCTGAGGAGACTTTTCTTCTGGACTGACAACTTCCGACCCTGCTGGCCCCAGGTGCTGCCTTCTCTGATGGCTTCTCCAGCGGCCTCAGTACCACCTTAGCGGTCTTCTGCCATGAGCTGCCCCACGAACTGGGTAGGAATGGCAGGAGCAGGGTGGGGTGGACTCCAGAAAGGAGATAGCTCCAAGGGGTAGAGCTTGGAGGCTGGTGGGTGGCATGGATGAGGGGCACCCCAGCTTACTCCCTCCCATCCTGTCCTCTGTCTCCAATAGGTGACTTTGCCATGCTGCTCCAGTCAGGGCTGTCCTTTCGGCGGCTGCTGCTGCTGAGCCTCGTGTCTGGAGCCCTGGGATTGGGGGGTGCAGTCCTGGGGGTGGGGCTCAGCCTGGGCCCTGTCCCCCTCACTCCCTGGGTGTTTGGGGTCACTGCTGGGGTCTTCCTCTATGTGGCCCTTGTGGACATGGTGAGAGATGTCGGGTAGAGCAGAGAAATCAAGGGCAGTGGGGAGGCGGGAGTGGAGAGGGAGGTAGCAGTCCCTCCGCCTCTACCATTAGCTCCTGGAAGGGCGTCAGACCATAGGCCCGCAAAAGTCTGAGAAACAAGGGACTAAGGTGTTTGGGTGGGGGCTGCTGATGCTTTCTGACACCATTCCTCTGGAGTTGAGAGGTCAGGGGCAAGGCCAGAATCCTGACATCCTCTTTTTCTTTCAGCTACCAGCCCTGCTTCGTCCTCCGGAGCCCCTGCCTACGCCCCATGTGCTCCTGCAGGGGCTGGGGCTGCTGCTGGGGGGCGGCCTCATGCTTGCCATAACCCTGCTGGAGGAGCGGCTACTGCCC
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TAGAGAAGCAGCCCAGGGTAGGATCTGGATGGTCACCTGGAGAGGAGACCTGCAGGGAATGGATGGCTGTCTTCATCCAGAAAGACAGAGAATATATTCCACTTACACCAGAGGGCAGACAAAGCTGCCTAACCCTGATGGAGGTCCAGTGAGTGCCCATTGCAGGAAGCATTCAAGCTGAGGCTGGATGAACATCGACAGGGCTGTTGAGAGGGAGATTAGATGGCATTTCAGGGTCTTTTCCCTTTTAAGATTCTGGCATGGAGAGCTCTAGTTTTCCAACCAGCTTCATTTATCAAATCAACAAAATGATTGAAATGATCAGAGTTTGCAGGGAAGATGATGACAATGCTCACTAGCACCCAGTTTGCATCAAATTGAATACCTGCATTGGACTGAATATTCACTAATAATACACATTGATTATAAGTACCCTTGGCCCTAGTCCCCAAGGTACCTGCCAGTAGGAGCAAAGGGGACCCTGGGAGAGACCCAGGAGTCTATGCAATGGAAGGACAGGTGTTAAATATATATATATATATTTTTTTGAGGTAGAGTCTGACTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTAAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGTGTTCACTACTATCCCCAGCTAATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCACTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATCACAGGTGCACGCCACCATGCCCAGCTAATTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCAATCTACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCTCATCCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGATGATACACCCGCCTGGGCCTCTCAAGGGCTGGGATTATAGGTGTGAGCCACTACACCTGGCCAGGTGTTAAAGATCTGAGTCATAGTTCCTGGTGATTCTCCAATGTATGACCCTCAATTCTCCAGTGTCTGAACGGCTCCCAGCTGCTGGTCAATTTTGGCTTGAGCCCCGCTGCTCCTCTGACCCCTCGTCAGTTTGCTCTGCTGTGCCCAGCCCTGCTTTATCAGATCGACAGCCGCGTCTGCATCGGCGCTCCGGCCCCTGCACCCCCAGGGGATCTACTATCTGGTCAGCAAGTAGGAGTGGGTGGGGGACACCCTGAATCCTGGAAGTGGGGCCCATGCCAAAAAGGAGGCTCACTGGGGTCCTGCCTCTCCTTGTAGTGTTCTCTCTGCTCCACCTTACGTGTGGGACCCTCCTCTTGCCCTGACCTAACTTCAGCCCCTGATTCTCCCCAGCCCTGCTTCAGAGTGCCCTGGCAGTCCTGTTGCTCAGCCTCCCTTCTCCCCTATCCCTGCTGCTGCTGCGGCTCCTGGGACCTCGTCTACTACGGCCCTTGCTGGGCTTCCTGGGGGCCCTGGCGGTGGGCACTCTTTGTGGGGATGCACTGCTACATCTGCTACCGCATGTATGTGAAGCCCCTTCCTTGTACCCCTGGCCTCCATGGATCTAAGGTGTCCCCAGCCATAGGACATCCCCTCCGCCTTTCCATCAGCTCCCATATCCTACTCCCAGATCCTGGCTTCAGCCCACAGCTGCCTTCTAGTAGAGCATATGAGCGAAGGCTTGCCACAATCCATGCAAGGGGATGTTGTTGGGTATAGGGGCTTCCAGAGTCTGCCCTGACCTTCTCTCTGTCAGGCACAAGAAGGGCGGCACGCAGGACCTGGCGGACTACCAGAGAAGGACCTGGGCCCGGGGCTGTCAGTGCTCGGAGGCCTCTTCCTGCTCTTTGTGCTGGAGAACACGCTGGGGCTTTTGCGGCACCGAGGGCTCAGGCCAGTGAGTGATACCCTTTTCTCCTCCTTCTGCTGAGACCAGAGTCCCAGTCAAGAACTGGGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGCCCAAGGCGGGCAGATCACAAGGTTAGGAGTTCGAGTCCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCGTGTCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGACTTGGGAGGTGGAGGTTGCAGCGAGCTAAGATGGCACCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCCATCTCAAAAACAACAACAACAACAACAAAACTGGGCCAAAAAGCCAAGAGATGAGGAGCAGTGTGTGCTCCTGGATCTCTGACATTTGCCTGGTGTGCAGGACCTATCGGCTAACAGGGAGTGGGTAGGGGCTCCTTAAGCACAGACCCAGGACTTCTGGCCAAATGGCATCCTATTCTGAGCTCAAGTCAACAAGAAACAGAGGGGAGGTGCCAACTTGGGAAGAAGGTAGAGGCCAAAGAACATCCCAGGTGCCAGAGGTGGAACCAGGTGTTCATCTTCCCAGCTTGTGGCCTGGCTTCCCCTTAGTCCCTGGCTCTGCTGCCTCCTCCACCAGGAGGGATGCCCTCCTATTTCAGAGATGCTGCAGGCGAAAACGAAGGAATCTCGAAACACGCAACTTGGATCCGGAGAATGGCAGTGGGATGGCCCTTCAGCCCCTACAGGCAGCTCCAGGTGACTAGAGGAGAAAATTTGAAGAGTAGGTTCCAAGCTCACAGTCCTTACTTGCAGCCACCAACACTGTCCTGTGCTTCTTCCCGCAGAGCCAGGGGCTCAGGGCCAGAGGGAGAAGAACAGCCAGCACCCACCAGCTCTGGCCCCTCCTGGGCACCAAGGCCACAGTCATGGGCACCAGGGTGGCACTGATATCACGTGGATGGTCCTCCTGGGAGATGGTCTACACAACCTCACTGATGGGCTGGCCATAGGTGTGAGGGGTGGGAACGGAGGGAAGCAGGTCCGAGGGGAGGCCAGGGCTCCTAGTTATCAGCTGGGGCTAGGAGAGGGCCGTCAGGAAGATGGGGAGAGGACGGGAGGACCACGGAACACAGGAACCTGCTTCTGAGGAGACTTTTCTTCTGGACTGACAACTTCCGACCCTGCTGGCCCCAGGTGCTGCCTTCTCTGATGGCTTCTCCAGCGGCCTCAGTACCACCTTAGCGGTCTTCTGCCATGAGCTGCCCCACGAACTGGGTAGGAATGGCAGGAGCAGGGTGGGGTGGACTCCAGAAAGGAGATAGCTCCAAGGGGTAGAGCTTGGAGGCTGGTGGGTGGCATGGATGAGGGGCACCCCAGCTTACTCCCTCCCATCCTGTCCTCTGTCTCCAATAGGTGACTTTGCCATGCTGCTCCAGTCAGGGCTGTCCTTTCGGCGGCTGCTGCTGCTGAGCCTCGTGTCTGGAGCCCTGGGATTGGGGGGTGCAGTCCTGGGGGTGGGGCTCAGCCTGGGCCCTGTCCCCCTCACTCCCTGGGTGTTTGGGGTCACTGCTGGGGTCTTCCTCTATGTGGCCCTTGTGGACATGGTGAGAGATGTCGGGTAGAGCAGAGAAATCAAGGGCAGTGGGGAGGCGGGAGTGGAGAGGGAGGTAGCAGTCCCTCCGCCTCTACCATTAGCTCCTGGAAGGGCGTCAGACCATAGGCCCGCAAAAGTCTGAGAAACAAGGGACTAAGGTGTTTGGGTGGGGGCTGCTGATGCTTTCTGACACCATTCCTCTGGAGTTGAGAGGTCAGGGGCAAGGCCAGAATCCTGACATCCTCTTTTTCTTTCAGCTACCAGCCCTGCTTCGTCCTCCGGAGCCCCTGCCTACGCCCCATGTGCTCCTGCAGGGGCTGGGGCTGCTGCTGGGGGGCGGCCTCATGCTTGCCATAACCCTGCTGGAGGAGCGGCTACTGCCC
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Task1_train_17984
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Here is a genetic alteration in STAT2 (signal transducer and activator of transcription 2) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
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AGCGCAGTAGAAAGGTGCCAGACATGGTCTTCTTCAGCAGCCGGCGCTCCTGGCTCCGACTCACAAAGCCCATGATGCGTCTGGAGCACAGAGAGCAGCTGTGAGACACCGCCCAACACCCTGCCCCACCAGGCCCCTGCCTCCCTGCTCCCCTTGTATGGAGAAACAGCCCAGGTTTGGAATCCAGGCTTTGGACCAAGCCCTGCCACTTAGCTTTTTTTTATCTTTTACAAGTCACTTCACTTTGCTGACAATAGCCACCTTCCGAGGGTTTGAAGTACGAAGATTCAGTGAGATCACACAGATGAACAGCACTTTTTTTTTTTTCTGGGAGACAGGGTGTCATTCTGTCACCCAGGCTGGAGAATAGTGGCATGATCACAGCTCACTGCCACCTCGACCTCCCGGGCTCAAGCAATCTTCCCACCTCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCACACCACCATGCCTGGCTAACTTTTGTATTTTTCGTAGAGACGGGGTTTCACCACGTGGCCCAGGGTAGTTTTGAACTCCTGGGCTCAAGTGATCTGTACTCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCAACCACGCCTGGCCACAAATAGCACTTTTTTTTGGTTTTGTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGTAACCTTCTCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCATCGTGCCTGGTCATGAATAGCACTTTTAAAAGCCAAATGCTACACAAGTTGGTAGGCAGTGTGGTGGAAAGAGCATGGGCTTGGAGTCACATAGGCCTGGATTTGAATATCAACTGTGTCCCTTGGGTAAGTTCTTTAACTTCTCTGAAACTCAGTTTCCTCACATGAAATGAAGCTGGCAAAACCCACCACTCAGCATGGTTGTAAGGATGAGATGAGAGAATTAATGAAGAGCACCCATCAAGCTCTGGAATGTAGGAGATGCTTCACAAACACTGTTTATGGCTATTATTGGTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCGTCACCCAGGCTGGAGGGCAGTGACGCAATCTCGGCTCACTGCAAGCTCCATCTCCCAGGTTCACGCCATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCTTATTATTGTTAACAAATGTGAGGAGACGTGGCCTGCACCTGTCTTTGCTCTCTCTCCCTGCTTGCCACGTGAGGGTGCAGAGACTCCACTCTCAAGCCCGGAAAGCACAAGCCCATGAGGGAAGGGTGACCAAGGCCTTACCCATCATTCCAGAGATCCTTCAGGTGGTCATGTACCAACTCCAGAATTTTGTCCAGCCATGTCCAGAATGGTAACTTGCCAGGAGGGCTCTCTCGCTGGAGGAGGAATGGAAAGGTAGCAAAAGCTGAGGAGTTGCCTCTGGTGTAGGGAAGGAGGGACGTGGGAAGGCCAGTATTTGGAATGTGGGCTAGATCCAGCAGCTCCACAGGATTCAGGGAGTTACCTTAGTGAAGTCAGCCCAGGACAATAATGGATCCTCAGTCCTACAGTTCTGCCCTGTGGGACAGATAGCCACAGACAGATGATGAGGGAAGCCAGGGGTCCTGGGATAGATAGGACAGAGGGACAGAAAAGACTAAGGCTGGGGAAAGGCTGAGAGAAAAGGAAATCTGTACCGAACAGCTTGTTTCTCAGCATGCTCAGCTGGTCTGAGTTGAGGCCTCGGCCAACATAGGAGGAGAACTGCCAACTGAGAGCAGGGCCCAGCAAGCTCCAGGGGGCCTTGGGGGGGTTGGAGAAGAACTGCTGGTTCTGCAGGGGTGGGAGCAGTGTAGGCTGGCTCAGAAGCAACCTATCACACCAAGCTTCCACACCCCTCCTCTCGCGCCTTGACCTGTCGGCCCCACTCCCCTACCTGAAGGTTTGGGCTGAGCAAATTGAACCAGAGAACTGAAGCCCAGGCAATTGAGAGCTGGTTCATGTTGGAAATAATCACCACAGGGAGGGTGTCCGTCTGGGGAGAAGACAGGAGTCACAGAGAGGGATGTGATGTTTCTAGCTGCAGGTATTTGTTAGAGGAAAGGAGTGCTAACCCACCCCAAGAGGCTTCTGTTTATCCCCTTCTTATGCCTTCTTCCAAAGCTGCTTTCTCTCTCCTTGCCCTCCATTTTCACTCACTTTCAGCTCCTGCTTCAGACCCTGGTAGGTATATTTGACCGTGAAGCTGATGATGTGCAGTTCCTCTGTCACACCTAGTGGCCCCTGGGACAGCCAAAGACATAGTCATCAGAAGGCTCTTTGGCAAGCTCCCCCTGCCTCGAGTCCTCTGTCCAGATCTCACCTTATTGCTGCCCTTTCCTGAACCACCTGAACGTTGCTCCACCAGAGTCTGTGAATTGAAGGGAAGGAGAGAAAATGCCAGAGTGGGCACCCTAGTGTCCCTGGAACCCCTGTTTGGCTTCAAGACCTCTCAAGCCCTGGGAACTTCCCCCAACCCCTGTTCCTTTGGACTAAAAGCAGGCCAGCTATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGACCAATATGGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGTGCCTATAGTCTCAGCTACTCAGGAGGCTGAGACAGAAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCTGTGAGCCAAGATGGCACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCCGTCTCAAAAAAATAAAAATAGTAATAAAAGCATAGGTCACAAACTATTCTTACCAGGTAACCAAAGTCCCAAATCAAACCCTGACTCTGCCCCTTCTCGGGGGTCAAAGTTTTCTGGTTTGAAGTCAGAATGTTGAACTTCCGGAAGCTGTTCCAGGAGGAAGATACATGGAGACAAGGAATGGAATTATTCTAAAAACTCAGCAGAAAAAAAAAAACAGAAGTTCCACTTCATTTCAGATCTCGCCATCTCCCTTTGTCCATATCCCAAATCCCCCTCTTCCTTGTTTGTGCCACCAGGGCTGCCGAATGTGGTTCTGCAGGTCATACACTGTACAGATGTTTGCAGTGTCCTTGTCAAGCACCTACCCTTGTAATTGAGGAGGATTCCTGAAAAGAAATAAATTTAAAAAAATCATTGGGCAAAAGAGTATGGAAGTTAGGAGTTTCGTCTTTGGGATCAGACAGACCTCGGTTCAAACCCGACTTGAGCTCACTAGCTATGTGGCCTTGAGAAGAGATGTAATCAGTCTCTCTAAGCCTGTATCTTTGTTTGTACAGTGCACTGGTAATAGTTTATTCATGGGGTTGGTGTGACAATTAAATGAGTAGCTGACATGCTGCATGTCACAAAGTAAGTGTTCAACAAAAGAAATGAATTATAATTTCTGTGAGGTAGGATTGGAAGGAGGAAGGAGATAGCCCTAGGGCCCTGTTGTGAAGAGTGAGTATCTCCTCCACCCCAGCAGCCCGTGTCCTGGCCACCCTTCACCTGCTCCAATTTACCTGTCAATGGAGACTTCCACAGTCAGTGACTCATTGCCTTCCTGGAGTCTCACCAGCAGCCTGGGGGAAGGAAGGGGGATAGGGGAAAGTGGTCAACCTCAACCTTCCGGATAGACTAGATGTTTGAAAAAGAGAAGAGGGAT
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AGCGCAGTAGAAAGGTGCCAGACATGGTCTTCTTCAGCAGCCGGCGCTCCTGGCTCCGACTCACAAAGCCCATGATGCGTCTGGAGCACAGAGAGCAGCTGTGAGACACCGCCCAACACCCTGCCCCACCAGGCCCCTGCCTCCCTGCTCCCCTTGTATGGAGAAACAGCCCAGGTTTGGAATCCAGGCTTTGGACCAAGCCCTGCCACTTAGCTTTTTTTTATCTTTTACAAGTCACTTCACTTTGCTGACAATAGCCACCTTCCGAGGGTTTGAAGTACGAAGATTCAGTGAGATCACACAGATGAACAGCACTTTTTTTTTTTTCTGGGAGACAGGGTGTCATTCTGTCACCCAGGCTGGAGAATAGTGGCATGATCACAGCTCACTGCCACCTCGACCTCCCGGGCTCAAGCAATCTTCCCACCTCTCAGCCTCCAGAGTAGCTGGGACCACAGGTGCACACCACCATGCCTGGCTAACTTTTGTATTTTTCGTAGAGACGGGGTTTCACCACGTGGCCCAGGGTAGTTTTGAACTCCTGGGCTCAAGTGATCTGTACTCCTCAGCCTCCCAAAATGCTAGGATTACAGGCATGAGCAACCACGCCTGGCCACAAATAGCACTTTTTTTTGGTTTTGTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGTAACCTTCTCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCATCGTGCCTGGTCATGAATAGCACTTTTAAAAGCCAAATGCTACACAAGTTGGTAGGCAGTGTGGTGGAAAGAGCATGGGCTTGGAGTCACATAGGCCTGGATTTGAATATCAACTGTGTCCCTTGGGTAAGTTCTTTAACTTCTCTGAAACTCAGTTTCCTCACATGAAATGAAGCTGGCAAAACCCACCACTCAGCATGGTTGTAAGGATGAGATGAGAGAATTAATGAAGAGCACCCATCAAGCTCTGGAATGTAGGAGATGCTTCACAAACACTGTTTATGGCTATTATTGGTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCGTCACCCAGGCTGGAGGGCAGTGACGCAATCTCGGCTCACTGCAAGCTCCATCTCCCAGGTTCACGCCATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCTTATTATTGTTAACAAATGTGAGGAGACGTGGCCTGCACCTGTCTTTGCTCTCTCTCCCTGCTTGCCACGTGAGGGTGCAGAGACTCCACTCTCAAGCCCGGAAAGCACAAGCCCATGAGGGAAGGGTGACCAAGGCCTTACCCATCATTCCAGAGATCCTTCAGGTGGTCATGTACCAACTCCAGAATTTTGTCCAGCCATGTCCAGAATGGTAACTTGCCAGGAGGGCTCTCTCGCTGGAGGAGGAATGGAAAGGTAGCAAAAGCTGAGGAGTTGCCTCTGGTGTAGGGAAGGAGGGACGTGGGAAGGCCAGTATTTGGAATGTGGGCTAGATCCAGCAGCTCCACAGGATTCAGGGAGTTACCTTAGTGAAGTCAGCCCAGGACAATAATGGATCCTCAGTCCTACAGTTCTGCCCTGTGGGACAGATAGCCACAGACAGATGATGAGGGAAGCCAGGGGTCCTGGGATAGATAGGACAGAGGGACAGAAAAGACTAAGGCTGGGGAAAGGCTGAGAGAAAAGGAAATCTGTACTGAACAGCTTGTTTCTCAGCATGCTCAGCTGGTCTGAGTTGAGGCCTCGGCCAACATAGGAGGAGAACTGCCAACTGAGAGCAGGGCCCAGCAAGCTCCAGGGGGCCTTGGGGGGGTTGGAGAAGAACTGCTGGTTCTGCAGGGGTGGGAGCAGTGTAGGCTGGCTCAGAAGCAACCTATCACACCAAGCTTCCACACCCCTCCTCTCGCGCCTTGACCTGTCGGCCCCACTCCCCTACCTGAAGGTTTGGGCTGAGCAAATTGAACCAGAGAACTGAAGCCCAGGCAATTGAGAGCTGGTTCATGTTGGAAATAATCACCACAGGGAGGGTGTCCGTCTGGGGAGAAGACAGGAGTCACAGAGAGGGATGTGATGTTTCTAGCTGCAGGTATTTGTTAGAGGAAAGGAGTGCTAACCCACCCCAAGAGGCTTCTGTTTATCCCCTTCTTATGCCTTCTTCCAAAGCTGCTTTCTCTCTCCTTGCCCTCCATTTTCACTCACTTTCAGCTCCTGCTTCAGACCCTGGTAGGTATATTTGACCGTGAAGCTGATGATGTGCAGTTCCTCTGTCACACCTAGTGGCCCCTGGGACAGCCAAAGACATAGTCATCAGAAGGCTCTTTGGCAAGCTCCCCCTGCCTCGAGTCCTCTGTCCAGATCTCACCTTATTGCTGCCCTTTCCTGAACCACCTGAACGTTGCTCCACCAGAGTCTGTGAATTGAAGGGAAGGAGAGAAAATGCCAGAGTGGGCACCCTAGTGTCCCTGGAACCCCTGTTTGGCTTCAAGACCTCTCAAGCCCTGGGAACTTCCCCCAACCCCTGTTCCTTTGGACTAAAAGCAGGCCAGCTATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCCGACCAATATGGTGAAACCCTATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGTGTGCCTATAGTCTCAGCTACTCAGGAGGCTGAGACAGAAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCTGTGAGCCAAGATGGCACCACTGCACTCCAGCCTGGGGGACAGAGTGAGACTCCGTCTCAAAAAAATAAAAATAGTAATAAAAGCATAGGTCACAAACTATTCTTACCAGGTAACCAAAGTCCCAAATCAAACCCTGACTCTGCCCCTTCTCGGGGGTCAAAGTTTTCTGGTTTGAAGTCAGAATGTTGAACTTCCGGAAGCTGTTCCAGGAGGAAGATACATGGAGACAAGGAATGGAATTATTCTAAAAACTCAGCAGAAAAAAAAAAACAGAAGTTCCACTTCATTTCAGATCTCGCCATCTCCCTTTGTCCATATCCCAAATCCCCCTCTTCCTTGTTTGTGCCACCAGGGCTGCCGAATGTGGTTCTGCAGGTCATACACTGTACAGATGTTTGCAGTGTCCTTGTCAAGCACCTACCCTTGTAATTGAGGAGGATTCCTGAAAAGAAATAAATTTAAAAAAATCATTGGGCAAAAGAGTATGGAAGTTAGGAGTTTCGTCTTTGGGATCAGACAGACCTCGGTTCAAACCCGACTTGAGCTCACTAGCTATGTGGCCTTGAGAAGAGATGTAATCAGTCTCTCTAAGCCTGTATCTTTGTTTGTACAGTGCACTGGTAATAGTTTATTCATGGGGTTGGTGTGACAATTAAATGAGTAGCTGACATGCTGCATGTCACAAAGTAAGTGTTCAACAAAAGAAATGAATTATAATTTCTGTGAGGTAGGATTGGAAGGAGGAAGGAGATAGCCCTAGGGCCCTGTTGTGAAGAGTGAGTATCTCCTCCACCCCAGCAGCCCGTGTCCTGGCCACCCTTCACCTGCTCCAATTTACCTGTCAATGGAGACTTCCACAGTCAGTGACTCATTGCCTTCCTGGAGTCTCACCAGCAGCCTGGGGGAAGGAAGGGGGATAGGGGAAAGTGGTCAACCTCAACCTTCCGGATAGACTAGATGTTTGAAAAAGAGAAGAGGGAT
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Task1_train_17985
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Located on Chromosome 12, this mutation impacts STAT2 (signal transducer and activator of transcription 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Pseudo-TORCH syndrome 3
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TGCCTGGCCTGGTATATTTCTAAAAGACTAAATTATAATAAATTTTTAAATGAGAAAATATTGAAAACAGTAGGTATTTTTCAAGTATGTTGGAGGACACACTAGTGATTTTTCTACAACACAATATAATTACCATAAAATATAGCGTTTCCTGGAAAAAGGTAACAAGAAATTGAAAATAACCTAAATAGCTGAAAATAGGAGTTCATTAATTAAATTATGTTACCACCATATAGGGGACTGTTGTGTGGACATAAGAAATAACATGGATAAATATAATATACTGTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGCCCAAGTTGGGTGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACATCGTCTCTACTAAAAATACAAAAAAACTAGCCAGGCATGGTGGTGTGTGCCTGTAATCCCAGCAACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGTTGGAAGTTGCAGTGAGCTGAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAAAAAATACTGTTAAGCTTAAAAAAAACCCCATGGATTTCAAAATAGTATGGACAATATGATTCCATTTTTGTTTAATAAGCTAGGTAATAGGTAATTTTCTCTTCCTCCTTCCTTCCTTCCTTTCTTGTCATTGTATTCGTTGCAGTAAAAAAAAAAATACATATATATATATTTCTGGGTGATTAAAAAAGAAGGAAAAACCAGATTGTGGGTTAATTCATTCCTTTCCCTGAAGGAGACTGGGCTCTGGGCTCCCTGCGTGGTGAGGATGAGGAGCAGAATAGAGCTGCAGTCAGCAGGGAGCAGGGCTCATTCTGGGGAGCAGAGACAAATAGAGAACAGTATCTCTTGCTATATGCAGGGCACTGCAACTTACAAATCACAGCGCATGGCGAGGACGAGGGTTGGGGTGGTACCTCTCACCATGTCTCCAGCTGTTCCAACCCGTGGTCAATGGGAGCTCTGATGCAGGCTTTTTGCTGCTGGGCCTTCCACTCCTCCAACTTTGGCAGCAGTAGCTCGATTAGGGTAGTTAATCGGCCTAGCAGTGCTTTGGAGGCATCCAGCACCTCCTGGGAAAGAGATAATGTGAGTGTTGAGCATCTCTCCCTTTCACCCTCCACCACCCAACTGGGGATGAAGAAACAAAGAAGCCAGCGCTAGAGGACCAGGGTCCCCACATCCCTCATTTTTCCAGGTCCTTGTTGCCCACATGTTCTGTCCTCTGTCTCCCACCTTTCTCCTTTTGTCCAGTTCATTGAGAGTTTCCTGCAGAATCTTCTGCTCTTTGGTCTGATGGGGGTCCAGAGAGGGTGTCTTCCCTGGATGGTGGGAACAGGAGTCAGTCCAGGGGTTCTTTCCTCTCCTTCCTGACTGGGGTCTCAGTCAGAGTCAGGAAGGAGGAATTTTGTGGAGGAAGAAAGGGAAACCAAGCAAAGCACAGGCACCTGTGGGACCCTCAGGCAAATTCTGAATGGTCATGCTTGGACCAGACACCCCCTCAAATAAAACACTGTTAGTTTTCCATGCATTTCCTCAACATTTACTGTCTCTCAGCTGCACCTCCAGCTCAGCCTCCACAAAGCACTTCCAGCTTTGCACGGCAGCAGGACTGTAGTCAGTGGGGTGTGTCTGACAGTGACTACTGCTCATCGGAGCTTTCTCCTGTTCACTTCCAGCTCCGGCTTCTCAGCAGGCACTTATCTTTCTCCAGCCCCTCAATGTGCTTCCTACCTTTGGCCTGGATCTTATATCGGAAGCAGAAGACATCCTGCTGGTCTTTCAGTTGGCTGATGGATTTTACCAGCTTCTGCAGAGGGGAGAGGACCCCGATGAGGCTGCTTCTCAGGGAGGTGTTAGGCTGAACGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCGGGATTCAATCTCATGTTGCTGGCTCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATGCCTTAAGTTCAGGCCTGAAATTATACCACAGGATGTCGGGGGGATCCTGTTCTGAGACAACTCCCTGAGTCCTTTCCATGGTTCCTCTCTACTTCAGGAGTTTCCAACATTACCACTGAATTGTCCTCACCAATTGGGCCCTCTGAGCCTGGATCAAAATTCTTTTTTCTTCCAGAAGGAGGTTAAAGATCATCTCAGCCAACTGGGTAGGATCCTGGGAAAAGGGCTAGAATAGGTAAACAGAAAGGATTGATCCAATTCAACCACTCTCAATGACCTATTGCCCTAGACCCTCCCCACCAATGTCCACAGTATTTCCTCCTCCTTCGGGGTTCTTAGCCCTTTGTCTTTTCACCATAGCATCCTCCCAACAGTGTCACGTATATGCAACCCTTCTCTCTGCTAGTGATTCCCCAAGTCCAGACTCTGTCCTCCTTTCCCCACATTTGTTCCCGTCTCCCTTTCCACCTCCAGGTACTATTCTATTCTCCAAACCTTACTCCTCTATGCTCAGCTCCCAGTGCTACCCCATCACTCCCAACCGTTCCAAGTACCTGAATGTCCCGGCAGAATTTCCGCAAATTGTGCTGCAGCAACAAGGACTCTGGGTCCTGGCTGCAACGGCCACACTCATAGTTCAGCTGATCCAAGAAGTGGAAGAATAGCATGGTAGCCTTGGAATCATCACTCCCAAGTGCAGCTTCCTGCCTGGGCACCAGGAATAAGAAGTATTAGTGTCTCTGCAGTGTTACTGTAGTCCTGAGGCTTTCCAACCCCTTCCTGCCATTAATGATTCCAGGATCCCGGGGGCCCAGAAGTAAGGAACCACCTTTTTCATTCCCCCAACTTCCTGAAGGCCTCACCAGTTCTGGTCTTCAATCCAGACAGCCAAGTACTGTCGAATGTCCACAGGCAGGAGGCTGTGCGAGTAAAGCTGGTGCAGCTGATCCTGAAAGGGGCTGTCAAGATTCTGCAGCATTTCCCACTGCGCCATTTGGGCTCTGCGTCAGAAGGATGAGGGTTCCCAATTGGATATTTTGCTGGACTAAATCATCCATAGTTTCATGATTGTTCATTATTACTAATTTAAAATGTTTAAATTATACAAGTAATAAAAATACAGAAAACATTAAAATATATGTTGATCCTACTGCTAATCTTGGTTCTTTCCCCTCCTCTCCAGAAGTAACCACTGCTATCAGTTTGGTGCATATTCTTCCAGGGAGTGCTACCAGTTGAGTATCTGCTATTCCAAGCATTTTGGATTTCAGATTTGTCCAGATTTTGGAATATCTGCATTACTTACCAGTCGAGCATCCCTAATCCAAAACTCTGAAATCTGAAATGGTCCAAAATCTAACTTTTTGAGCACCCACATGACACTCAAAGGAAATGCTCACTGGAGCATTTTGGAGCCAAATTTTTCAGATTAGGAATGCCTAATCTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGACTCTCACTCTTTTGCCTGGGCCGGAGTGAAGTGGCATGATCTTGGCTCATTGCAACCACCATCCCCCTGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCAGCTAATTTTTGTATATTTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTACTTCGGACTCCCAAAGTACTAGGATTACAGGCATGAGCCACTGTGGTCCCAACCTGTATTTTTTTTTTCTTCAGATGGAGTCTCGATCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATTTTGGCTCACTGCAAGCTCCGCCTCCCGGGCTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCTCCCGCCACCATGCCCGGCTGATTTTTTTTTTTG
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TGCCTGGCCTGGTATATTTCTAAAAGACTAAATTATAATAAATTTTTAAATGAGAAAATATTGAAAACAGTAGGTATTTTTCAAGTATGTTGGAGGACACACTAGTGATTTTTCTACAACACAATATAATTACCATAAAATATAGCGTTTCCTGGAAAAAGGTAACAAGAAATTGAAAATAACCTAAATAGCTGAAAATAGGAGTTCATTAATTAAATTATGTTACCACCATATAGGGGACTGTTGTGTGGACATAAGAAATAACATGGATAAATATAATATACTGTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGCCCAAGTTGGGTGGATCACCTGAAGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACATCGTCTCTACTAAAAATACAAAAAAACTAGCCAGGCATGGTGGTGTGTGCCTGTAATCCCAGCAACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGTTGGAAGTTGCAGTGAGCTGAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAAAAAATACTGTTAAGCTTAAAAAAAACCCCATGGATTTCAAAATAGTATGGACAATATGATTCCATTTTTGTTTAATAAGCTAGGTAATAGGTAATTTTCTCTTCCTCCTTCCTTCCTTCCTTTCTTGTCATTGTATTCGTTGCAGTAAAAAAAAAAATACATATATATATATTTCTGGGTGATTAAAAAAGAAGGAAAAACCAGATTGTGGGTTAATTCATTCCTTTCCCTGAAGGAGACTGGGCTCTGGGCTCCCTGCGTGGTGAGGATGAGGAGCAGAATAGAGCTGCAGTCAGCAGGGAGCAGGGCTCATTCTGGGGAGCAGAGACAAATAGAGAACAGTATCTCTTGCTATATGCAGGGCACTGCAACTTACAAATCACAGCGCATGGCGAGGACGAGGGTTGGGGTGGTACCTCTCACCATGTCTCCAGCTGTTCCAACCCGTGGTCAATGGGAGCTCTGATGCAGGCTTTTTGCTGCTGGGCCTTCCACTCCTCCAACTTTGGCAGCAGTAGCTCGATTAGGGTAGTTAATCGGCCTAGCAGTGCTTTGGAGGCATCCAGCACCTCCTGGGAAAGAGATAATGTGAGTGTTGAGCATCTCTCCCTTTCACCCTCCACCACCCAACTGGGGATGAAGAAACAAAGAAGCCAGCGCTAGAGGACCAGGGTCCCCACATCCCTCATTTTTCCAGGTCCTTGTTGCCCACATGTTCTGTCCTCTGTCTCCCACCTTTCTCCTTTTGTCCAGTTCATTGAGAGTTTCCTGCAGAATCTTCTGCTCTTTGGTCTGATGGGGGTCCAGAGAGGGTGTCTTCCCTGGATGGTGGGAACAGGAGTCAGTCCAGGGGTTCTTTCCTCTCCTTCCTGACTGGGGTCTCAGTCAGAGTCAGGAAGGAGGAATTTTGTGGAGGAAGAAAGGGAAACCAAGCAAAGCACAGGCACCTGTGGGACCCTCAGGCAAATTCTGAATGGTCATGCTTGGACCAGACACCCCCTCAAATAAAACACTGTTAGTTTTCCATGCATTTCCTCAACATTTACTGTCTCTCAGCTGCACCTCCAGCTCAGCCTCCACAAAGCACTTCCAGCTTTGCACGGCAGCAGGACTGTAGTCAGTGGGGTGTGTCTGACAGTGACTACTGCTCATCGGAGCTTTCTCCTGTTCACTTCCAGCTCCGGCTTCTCAGCAGGCACTTATCTTTCTCCAGCCCCTCAATGTGCTTCCTACCTTTGGCCTGGATCTTATATCGGAAGCAGAAGACATCCTGCTGGTCTTTCAGTTGGCTGATGGATTTTACCAGCTTCTGCAGAGGGGAGAGGACCCCGATGAGGCTGCTTCTCAGGGAGGTGTTAGGCTGAACGCTGTCAACCCTAACTCCTACCACATCTACTAACCTCCATCATAGCCCTTAAATCCAGGATCCAGGATTCAATCTCATGTTGCTGGCTCTCCACAGGTGTTTCGAGAACTGGCTCTCCTTGTTCCTGAAAAAAGAGGCTCTGAGCACGTTTTAACTCTGGCCTTTCATGCCTTAAGTTCAGGCCTGAAATTATACCACAGGATGTCGGGGGGATCCTGTTCTGAGACAACTCCCTGAGTCCTTTCCATGGTTCCTCTCTACTTCAGGAGTTTCCAACATTACCACTGAATTGTCCTCACCAATTGGGCCCTCTGAGCCTGGATCAAAATTCTTTTTTCTTCCAGAAGGAGGTTAAAGATCATCTCAGCCAACTGGGTAGGATCCTGGGAAAAGGGCTAGAATAGGTAAACAGAAAGGATTGATCCAATTCAACCACTCTCAATGACCTATTGCCCTAGACCCTCCCCACCAATGTCCACAGTATTTCCTCCTCCTTCGGGGTTCTTAGCCCTTTGTCTTTTCACCATAGCATCCTCCCAACAGTGTCACGTATATGCAACCCTTCTCTCTGCTAGTGATTCCCCAAGTCCAGACTCTGTCCTCCTTTCCCCACATTTGTTCCCGTCTCCCTTTCCACCTCCAGGTACTATTCTATTCTCCAAACCTTACTCCTCTATGCTCAGCTCCCAGTGCTACCCCATCACTCCCAACCGTTCCAAGTACCTGAATGTCCCGGCAGAATTTCCGCAAATTGTGCTGCAGCAACAAGGACTCTGGGTCCTGGCTGCAACGGCCACACTCATAGTTCAGCTGATCCAAGAAGTGGAAGAATAGCATGGTAGCCTTGGAATCATCACTCCCAAGTGCAGCTTCCTGCCTGGGCACCAGGAATAAGAAGTATTAGTGTCTCTGCAGTGTTACTGTAGTCCTGAGGCTTTCCAACCCCTTCCTGCCATTAATGATTCCAGGATCCCGGGGGCCCAGAAGTAAGGAACCACCTTTTTCATTCCCCCAACTTCCTGAAGGCCTCACCAGTTCTGGTCTTCAATCCAGACAGCCAAGTACTGTCGAATGTCCACAGGCAGGAGGCTGTGCGAGTAAAGCTGGTGCAGCTGATCCTGAAAGGGGCTGTCAAGATTCTGCAGCATTTCCCACTGCGCCATTTGGGCTCTGCGTCAGAAGGATGAGGGTTCCCAATTGGATATTTTGCTGGACTAAATCATCCATAGTTTCATGATTGTTCATTATTACTAATTTAAAATGTTTAAATTATACAAGTAATAAAAATACAGAAAACATTAAAATATATGTTGATCCTACTGCTAATCTTGGTTCTTTCCCCTCCTCTCCAGAAGTAACCACTGCTATCAGTTTGGTGCATATTCTTCCAGGGAGTGCTACCAGTTGAGTATCTGCTATTCCAAGCATTTTGGATTTCAGATTTGTCCAGATTTTGGAATATCTGCATTACTTACCAGTCGAGCATCCCTAATCCAAAACTCTGAAATCTGAAATGGTCCAAAATCTAACTTTTTGAGCACCCACATGACACTCAAAGGAAATGCTCACTGGAGCATTTTGGAGCCAAATTTTTCAGATTAGGAATGCCTAATCTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGACTCTCACTCTTTTGCCTGGGCCGGAGTGAAGTGGCATGATCTTGGCTCATTGCAACCACCATCCCCCTGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCCCAGCTAATTTTTGTATATTTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTACTTCGGACTCCCAAAGTACTAGGATTACAGGCATGAGCCACTGTGGTCCCAACCTGTATTTTTTTTTTCTTCAGATGGAGTCTCGATCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATTTTGGCTCACTGCAAGCTCCGCCTCCCGGGCTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCTCCCGCCACCATGCCCGGCTGATTTTTTTTTTTG
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Task1_train_17986
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A variant was discovered on Chromosome 12, affecting MIP (major intrinsic protein of lens fiber). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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CTCAGAAGCCCGGAGGAGCCACCGGCCCTCTGGCGCGGGGCCGCAGCCTTTCCGCCACCAGGCTCAGCTGGACCGGTCCCCGCCTGCGCGAAGAGCGAGGCGGGGCGAGCCGGGCTGGTCCACGTGACTCCGAGCGAACTGGGGCGGAGATTGGTGAAGAAGGAAGGAAAAGGGAAGCGAGTGCAGGGACTGTTTTATGTGAGGTCGATCTAAAAATCACAGCGCTATGAATTTTCTGCTGAATTATAGTAGAATCAAAGTCCGATTAGAGGTGAATTTACAAACATTCTTCCCCTTCTTCTAGTCAAGCGGACTATTCCAAGTCTTAAATAGTTAGTTAGAAAAGTTAGGTTTTATTTGGGAGGAAGTAAAGAGCTGAAGTACAGGGAGGAATGGTCTTCTGGGATAGGGGATGTCCGTTGTATTATAGGTATAAATTTAAAGCTTTCAAAGTATGCAAGAGGCTCATAAAAGGAAGAAAGCAACCGTAAATATTCATTGAACAGTTGAGGGTCTCTTCTGGCCTCTGCTGAGATGATCTTGCCAAAAGGAAAAGAAAATAGGGCTGTGCTCTGGCCCCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAAGATCGCTTGAGCCCAGGATTTCTAGACTGTAGTGTGCGATGATCGTGCCTGTGAATATCCATTGCACTCCAACCTGGTCAACATAGTAAGACCCCCTCTCAAAAAAAAAAAGAAGATAGGGCTCAAACAAATAATAATCTCCTGAATTATTAAGCATTTGAATAGAAGGAATCAATTTCTGGGGTATGAGGGAGTTAGAAGAGATTTGCTTCAAGATGAAAGGACGGATGACAGAGAAATGAAAATACACAGACACAAAACAAGAAAAAAAACACGGAACTAGTGATAAAAGCAGAAAGATGCCATTTGAGGAGTGTTTTGATTTGCTCTAAATAAATTAGAACAGAGTCAAAGCCTCTCCCCTCATGCCCCCTACTACCACCCGTTCATTTATTTGCTCCAGGAATCAGATTTCCTGTGTTGGCCTTAGGGAACAATTGTGGGGCTTAAATACCATCTGCCAGGCAGCCACAACAGTGGATGTCAGGCTGACCAGTTAAGCTGCTTAATTTTTCTAGATTCTAGGCTTGCCCAAGCTCTATTTAGGTTGGAAGCTCTTTGGCCCAGGACCTCTGAAGAGATCCATTATGTCAGAATGAACACAACCAGCCAGCGGATGTAGACAGGTTTACGTGGCTTTACAGAACAGCTAAATCCTAGTGTTCACTTTTCTCAGAGCTACTTCCCCACCCAAGTCCCTGGGGCAAGCATCCCTAAGATAAGTAGGCTATATATTCCCATTAACTTCCCCCCAATTCTTCGGTACACCTACATCCTGATCTGGGGCTAATACTCCGTTTTCACCACCCACCTCCCTTGAGTCCCTTCTCCTAACCCTTGGAAGCCTTGTCTCCTCCACTTCTCTCCATCTGCCTCGTGTGAGGAGTAACTCCCTGCTTCTCTGTTCCCTCAGAAATCAAGAGCCACACACTTGACTGGCAGCAGGGTAAAGGCCAGAAACTTAAGGTGTCGGTTACCCAGTACTCACCATACTGGGTCGAGGAAGGGAGGTATAGGATGGCACCTCTTTTTGCTTCCTTAGCTCTCATGCCCCAAAACTCAGACACAGCCACACTCACATTCATATGCACAATCAGCACACACGGCGAAGGGTGGTGGGATGGGGAGGAAGGGAAGTTTGCACCAACCAGCTCATGAATGCAACTTGAAAGATTTCACACAGCAAAAGGAAAAAAAAAAAAAAAACAACCACATACATAAGTTAAAAAATAAAGAAGTACATGACCCTCCCCACAGTCTCTTTCTTCATCTAGGGGCTGGCTAAACCCCTCCACGTAAACTCAGAAGCTTTCTACTCCCTCTATTCAGCTGGAGCTTCTACAGGGCCTGGGTGTTCAGTTCAACAGGTTCCCCTGTGACCTCTGGTTGTCCATTGGAGACATCGGGTTTGGCACCCTTGAGGACAGACAGTCTCTCAGAAATACTCTTGAGCCGGGGGAAGAGAAGAAAGTCGTACAGGAGGCTGCCCAGACCCCCTCCAATGATTGGGCCTACCCAGTACACCTGTAGAAAGAGAAAAGGAATACTCAGGCTTGGGGAGGGGACAGAGTAGCAACGCTGCTCTTTTTCCAGCCACCTTAGTGGAAAACAAGATATTGTACACTTGATATCTACAATAAACTCACCATTTATTTTCTGATTCATCAAATTACTCCTTTATCCCACACCTTAGCATGTGTATATTCTATTTGTTATCAATTTGCACTAGTTTGTATGTTGCTTTCAAAAAAATTTTATACATTGTGGTAAAACACATATAAAATTTACCATATTAAATATTTTTGGACAGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATCACAAGACGGGCGGATCACAAGGTCAGCCATTTGAGAACAGCCTGACCAACAGGGAGAAACCCCATCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCTGAGATCAAGCTCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCATCTCAAAAAAATATATATATGTTTTTAAGTGTACAGTTTAGTAGTGTTAAGTATATTCACATTGTTGTGCAACCTATGTCTAGAACTTTTTCATCTTGCAAAGCTGTAACTCTATACCCATTAAACAACTGCCTATTCCACCCCACCCCCATCAGCCCCTGGTAACTATCCTTCTACTTTGCGTCTGTGAATTTGAGTACTCTAAATACCCCATATAAATGTAATCATACAGTATTTGTCTTTTTGTGACTGGCTTATTCACTTAGCATAATGTCCTCAAGATTCATCCATGTTGTGGTATGTGTCACAATTTCCTTCCTTTTTACAGGTAATATTCCATTTATGTATATACCACATTTTGTTTATCCATTCATCCACTGAGGAACACTTGGGTTGCTTTTACCTCTTGGCTATTGTGAATAATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCATATTTAGTTGTCTCTCTTCATACCCGCTAGTTCAGCAACCAGTGAATACTCAGTGCATACTCCCTGACTAACCAGAGAAGGAAAAATATGAGCAAGAGCCTCTCCTTCTAGCAAAATCATGAATCCTGCTCACACAGGCATGCCAAACTCTCTGACAGCCCCCTTAGCTGAGTGCTGGTACAGCAGCCAACACACGCAGAAGGAAAGCAGGAATCCAGCCTGGAACCTGCAGTCCACAACCATCCAGAAGGGCTTCAGGATCTTGCCCCTCTCCCTTCACTCACCCAGTGGTTAGTGAAGTTCCCAGTGAGAATGGCAGGAGCAAAGGAGCGGGCAGGATTCATGCCTGCACCAGTATAATACATCTGCAAAAGAGACAGTTGTAACTGAGACACCCCCCTACTGCACCCCAGCTTCTCTCCCCACAACCCACATTGCCCCTGAGAGCTGCCATCTTTTCTCCAGCCAGCAGCAAGTGGAGAGGGACAGCCTGCATGACTCTCCAGGGGTTCCTGCAATGGGGTGAGGGCAACTGATGCCCTGTCTGGGAACAGACTATGGATCCATAGGCAAAGCCCATGTCTAGCCATGATACGTTCATTTCTACCTTGGGGTCAAGAAGGACTAGATATAG
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CTCAGAAGCCCGGAGGAGCCACCGGCCCTCTGGCGCGGGGCCGCAGCCTTTCCGCCACCAGGCTCAGCTGGACCGGTCCCCGCCTGCGCGAAGAGCGAGGCGGGGCGAGCCGGGCTGGTCCACGTGACTCCGAGCGAACTGGGGCGGAGATTGGTGAAGAAGGAAGGAAAAGGGAAGCGAGTGCAGGGACTGTTTTATGTGAGGTCGATCTAAAAATCACAGCGCTATGAATTTTCTGCTGAATTATAGTAGAATCAAAGTCCGATTAGAGGTGAATTTACAAACATTCTTCCCCTTCTTCTAGTCAAGCGGACTATTCCAAGTCTTAAATAGTTAGTTAGAAAAGTTAGGTTTTATTTGGGAGGAAGTAAAGAGCTGAAGTACAGGGAGGAATGGTCTTCTGGGATAGGGGATGTCCGTTGTATTATAGGTATAAATTTAAAGCTTTCAAAGTATGCAAGAGGCTCATAAAAGGAAGAAAGCAACCGTAAATATTCATTGAACAGTTGAGGGTCTCTTCTGGCCTCTGCTGAGATGATCTTGCCAAAAGGAAAAGAAAATAGGGCTGTGCTCTGGCCCCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAAGATCGCTTGAGCCCAGGATTTCTAGACTGTAGTGTGCGATGATCGTGCCTGTGAATATCCATTGCACTCCAACCTGGTCAACATAGTAAGACCCCCTCTCAAAAAAAAAAAGAAGATAGGGCTCAAACAAATAATAATCTCCTGAATTATTAAGCATTTGAATAGAAGGAATCAATTTCTGGGGTATGAGGGAGTTAGAAGAGATTTGCTTCAAGATGAAAGGACGGATGACAGAGAAATGAAAATACACAGACACAAAACAAGAAAAAAAACACGGAACTAGTGATAAAAGCAGAAAGATGCCATTTGAGGAGTGTTTTGATTTGCTCTAAATAAATTAGAACAGAGTCAAAGCCTCTCCCCTCATGCCCCCTACTACCACCCGTTCATTTATTTGCTCCAGGAATCAGATTTCCTGTGTTGGCCTTAGGGAACAATTGTGGGGCTTAAATACCATCTGCCAGGCAGCCACAACAGTGGATGTCAGGCTGACCAGTTAAGCTGCTTAATTTTTCTAGATTCTAGGCTTGCCCAAGCTCTATTTAGGTTGGAAGCTCTTTGGCCCAGGACCTCTGAAGAGATCCATTATGTCAGAATGAACACAACCAGCCAGCGGATGTAGACAGGTTTACGTGGCTTTACAGAACAGCTAAATCCTAGTGTTCACTTTTCTCAGAGCTACTTCCCCACCCAAGTCCCTGGGGCAAGCATCCCTAAGATAAGTAGGCTATATATTCCCATTAACTTCCCCCCAATTCTTCGGTACACCTACATCCTGATCTGGGGCTAATACTCCGTTTTCACCACCCACCTCCCTTGAGTCCCTTCTCCTAACCCTTGGAAGCCTTGTCTCCTCCACTTCTCTCCATCTGCCTCGTGTGAGGAGTAACTCCCTGCTTCTCTGTTCCCTCAGAAATCAAGAGCCACACACTTGACTGGCAGCAGGGTAAAGGCCAGAAACTTAAGGTGTCGGTTACCCAGTACTCACCATACTGGGTCGAGGAAGGGAGGTATAGGATGGCACCTCTTTTTGCTTCCTTAGCTCTCATGCCCCAAAACTCAGACACAGCCACACTCACATTCATATGCACAATCAGCACACACGGCGAAGGGTGGTGGGATGGGGAGGAAGGGAAGTTTGCACCAACCAGCTCATGAATGCAACTTGAAAGATTTCACACAGCAAAAGGAAAAAAAAAAAAAAAACAACCACATACATAAGTTAAAAAATAAAGAAGTACATGACCCTCCCCACAGTCTCTTTCTTCATCTAGGGGCTGGCTAAACCCCTCCACGTAAACTCAGAAGCTTTCTACTCCCTCTATTCAGCTGGAGCTTCTACAGGGCCTGGGTGTTCAGTTCAACAGGTTCCCCTGTGACCTCTGGTTGTCCATTGGAGACATCGGGTTTGGCACCCTTGAGGACAGACAGTTTCTCAGAAATACTCTTGAGCCGGGGGAAGAGAAGAAAGTCGTACAGGAGGCTGCCCAGACCCCCTCCAATGATTGGGCCTACCCAGTACACCTGTAGAAAGAGAAAAGGAATACTCAGGCTTGGGGAGGGGACAGAGTAGCAACGCTGCTCTTTTTCCAGCCACCTTAGTGGAAAACAAGATATTGTACACTTGATATCTACAATAAACTCACCATTTATTTTCTGATTCATCAAATTACTCCTTTATCCCACACCTTAGCATGTGTATATTCTATTTGTTATCAATTTGCACTAGTTTGTATGTTGCTTTCAAAAAAATTTTATACATTGTGGTAAAACACATATAAAATTTACCATATTAAATATTTTTGGACAGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATCACAAGACGGGCGGATCACAAGGTCAGCCATTTGAGAACAGCCTGACCAACAGGGAGAAACCCCATCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCTGAGATCAAGCTCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCATCTCAAAAAAATATATATATGTTTTTAAGTGTACAGTTTAGTAGTGTTAAGTATATTCACATTGTTGTGCAACCTATGTCTAGAACTTTTTCATCTTGCAAAGCTGTAACTCTATACCCATTAAACAACTGCCTATTCCACCCCACCCCCATCAGCCCCTGGTAACTATCCTTCTACTTTGCGTCTGTGAATTTGAGTACTCTAAATACCCCATATAAATGTAATCATACAGTATTTGTCTTTTTGTGACTGGCTTATTCACTTAGCATAATGTCCTCAAGATTCATCCATGTTGTGGTATGTGTCACAATTTCCTTCCTTTTTACAGGTAATATTCCATTTATGTATATACCACATTTTGTTTATCCATTCATCCACTGAGGAACACTTGGGTTGCTTTTACCTCTTGGCTATTGTGAATAATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCATATTTAGTTGTCTCTCTTCATACCCGCTAGTTCAGCAACCAGTGAATACTCAGTGCATACTCCCTGACTAACCAGAGAAGGAAAAATATGAGCAAGAGCCTCTCCTTCTAGCAAAATCATGAATCCTGCTCACACAGGCATGCCAAACTCTCTGACAGCCCCCTTAGCTGAGTGCTGGTACAGCAGCCAACACACGCAGAAGGAAAGCAGGAATCCAGCCTGGAACCTGCAGTCCACAACCATCCAGAAGGGCTTCAGGATCTTGCCCCTCTCCCTTCACTCACCCAGTGGTTAGTGAAGTTCCCAGTGAGAATGGCAGGAGCAAAGGAGCGGGCAGGATTCATGCCTGCACCAGTATAATACATCTGCAAAAGAGACAGTTGTAACTGAGACACCCCCCTACTGCACCCCAGCTTCTCTCCCCACAACCCACATTGCCCCTGAGAGCTGCCATCTTTTCTCCAGCCAGCAGCAAGTGGAGAGGGACAGCCTGCATGACTCTCCAGGGGTTCCTGCAATGGGGTGAGGGCAACTGATGCCCTGTCTGGGAACAGACTATGGATCCATAGGCAAAGCCCATGTCTAGCCATGATACGTTCATTTCTACCTTGGGGTCAAGAAGGACTAGATATAG
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Task1_train_17987
|
With a mutation on Chromosome 12 in gene MIP (major intrinsic protein of lens fiber), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Cataract 15 multiple types
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TATCAATTTGCACTAGTTTGTATGTTGCTTTCAAAAAAATTTTATACATTGTGGTAAAACACATATAAAATTTACCATATTAAATATTTTTGGACAGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATCACAAGACGGGCGGATCACAAGGTCAGCCATTTGAGAACAGCCTGACCAACAGGGAGAAACCCCATCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCTGAGATCAAGCTCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCATCTCAAAAAAATATATATATGTTTTTAAGTGTACAGTTTAGTAGTGTTAAGTATATTCACATTGTTGTGCAACCTATGTCTAGAACTTTTTCATCTTGCAAAGCTGTAACTCTATACCCATTAAACAACTGCCTATTCCACCCCACCCCCATCAGCCCCTGGTAACTATCCTTCTACTTTGCGTCTGTGAATTTGAGTACTCTAAATACCCCATATAAATGTAATCATACAGTATTTGTCTTTTTGTGACTGGCTTATTCACTTAGCATAATGTCCTCAAGATTCATCCATGTTGTGGTATGTGTCACAATTTCCTTCCTTTTTACAGGTAATATTCCATTTATGTATATACCACATTTTGTTTATCCATTCATCCACTGAGGAACACTTGGGTTGCTTTTACCTCTTGGCTATTGTGAATAATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCATATTTAGTTGTCTCTCTTCATACCCGCTAGTTCAGCAACCAGTGAATACTCAGTGCATACTCCCTGACTAACCAGAGAAGGAAAAATATGAGCAAGAGCCTCTCCTTCTAGCAAAATCATGAATCCTGCTCACACAGGCATGCCAAACTCTCTGACAGCCCCCTTAGCTGAGTGCTGGTACAGCAGCCAACACACGCAGAAGGAAAGCAGGAATCCAGCCTGGAACCTGCAGTCCACAACCATCCAGAAGGGCTTCAGGATCTTGCCCCTCTCCCTTCACTCACCCAGTGGTTAGTGAAGTTCCCAGTGAGAATGGCAGGAGCAAAGGAGCGGGCAGGATTCATGCCTGCACCAGTATAATACATCTGCAAAAGAGACAGTTGTAACTGAGACACCCCCCTACTGCACCCCAGCTTCTCTCCCCACAACCCACATTGCCCCTGAGAGCTGCCATCTTTTCTCCAGCCAGCAGCAAGTGGAGAGGGACAGCCTGCATGACTCTCCAGGGGTTCCTGCAATGGGGTGAGGGCAACTGATGCCCTGTCTGGGAACAGACTATGGATCCATAGGCAAAGCCCATGTCTAGCCATGATACGTTCATTTCTACCTTGGGGTCAAGAAGGACTAGATATAGCAGTCACAAGAGAGGGATAGGGCAGAGTTGATTCCTTTGTGCCAGTAGAGAGTGCAATGGACAATGTTCATGTTTGACAGTGAAGTAGGCAGGAAGAACCCTTAAAAGTTGGGAAAGGTTTAGGGGCCCCGGAATCCTTGAATGAGAAGTTGCTCTCCTTCCTGCTTACCCCAAAGAGGTGCCCCAGGGCAAGGGAGAAGCCAACGGCCAGGGCCACGGAGCCCAGTTGGCCATTCCGCCTCTCGTCGTATGTGGCAAAGATGCAGAGCACGAACTGGAGCGTCAGGAAGATCTCCACTGTGGTTGCCTGGCCCACGCTCACCGCAGGGTGCAACTGTGCAAAGGAAGAAGAAGAGAGACAGCTCAGGAGGGCTGCCACAGTGTTACCTCCTCAAGACTTCCCCGGCAAGGATCTCGTTACGGCATCAGGTCCGTGGAGAGGAAGGATAATACAACCCCCTTCATAATCATTGTATTTGCATCTTACCATCTCCTAACAGTGCTCCTTCATGATGGAAATGATTGCAGCCACTTACATGTATGAGGAAACTGAGGCCTTGAAAGGTAAAATAAGTTTCCTTAAGAACCTGCAAGGAGTTGGAAGGAAAGCTGAAACTCAAACTCAGGTTTCTTAATTCTCAGTCCAGGGCCCTATGCCTTCCTTAAAGCTCTAAACCACCTGTCAATCCTCACCACTTCAACACACACATGCTCACACATGCACATATTGTCCCAGACCCCAGGGGAGCTGATTCACCTGCACCAGTCAGGGAGTCAGGGCAATAGAGAGACAGGACACCAGGTTCCCCATCCCCTCTCAGCCAACCATTACCGTGTTGAGTGCTAGGTTTCCTCGGACAGCAGGTGGGGTAACGCTATACAGCACAGCGGCCCCAGCCACAGCTCCCAGGAGCTGGGCTGCCATATAGCAGAAGGCACGGAGCAGGGACATCTGGGAGCCCACAAGGAAAGCAAAAGTGACTGCAGGATTGACGTGGGCTCCACTGATGTGGCCCACAGACTGCACCAGTGTAGCCAGGGCCAAGCCAAATGCCATAGCCACCTGCAGAACATGCAGGGGTCCAGGAGCCCAGCGCAGTGAGGACCCCAGCCCAAAGAAGACATAGAAGAGGGTGGCAAAGAACTCAGCGAATATGGCCCTCCAAAAGGAGGCTGATCGCAGTTCCCACATGGCAGGGGGGATGGTCACAGTGCCTGGGTCCCTGCTACCCCCATGGCCTTGTCTGGGTGGACAGTCCCCTTTATAGAGGACTCTTAATCCCTGGGAGGGGCAGGCTGAGGTAGCAGGCCCAGCCTCTTAACCCCTTCACAGCTGTGGAGGGCTAAGTCCCCTCCCCTACATGGTAAAAATGCTGGATTTTCCCGCCTTTCTCAACTGGGAGATGAGCCGAGAGAGCCATGGCAGTGAGGGTGGGATTGGGGTCACAGCAAGAGAGACTACGAGAAGTGGGGGTGAAGAACAGCAGGACTGGAAGAGTCTGCCCTTCTGTGTGTGTCAAAATTGGGGTTCATTGTCCTGATTGACATCAACATTAGAATACTCTTCAGCTCTCTTTGGAAGGTCCATCAAGCTGAGCTCACTTCATGGCATTTGGGGCTGAGCTCCTGGGGGCCTCAGCCTCCTCTGAGTCTGCCAGGGGTAAGGGTTGGGGGGAGTGGTAAGGAGTGGGGTTCAGCAGGGAAGTTGGATAACTAAAGAGAATTCTTTAGTTCCCAGGGATTAGAAGCCTTTCTCCCATTGGCTAGTTTGGGCTGGAATCTGTGGACCCTGCAGCTCTGGGACAAAATAGTTCTGCTGCGTCTGGCTTTCTCTGAGCCCGGGTTCCCTACCCCCAGTCCATGACAGCACCTCCCTTTTCAAACCCTAGGCCTGGCTTTTTAAACTACAGGGACCGACAGAGAGAAGACACTATCATCCCTGCATGGGCTGGGAGTGGGGTTGGAGGGATAGGAATAAGAAAGGGACTCGTAGTTAAACCTTAGAATCAGCTTGTATTTCATCTTTCCTAACTCACATGGTCATAGCAAGAAGTACTGAAAGGAAGGAAACAGTCATGGCTATGAAGCAATGGGAAGGTCTAATGTCCTTTAATACAGCCATGATCAGCACACCCTAAGCCTTGATCCCCAGGGAAAGGTATGGGTGTGCTGGGATCAGATCTGGGGAAACAGCCGATCAAAGAGAGGGAAAAGGATAATATGGGGAAGGAAAGTTTGGGGAAAGAGGTTCAGTTGTGCTCGGGCTTGGTGAGGGACTTGGGACCTAGGCGTGGGGTTGTGTGGTGATGGAGAAGGTAGAATGGGACAT
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TATCAATTTGCACTAGTTTGTATGTTGCTTTCAAAAAAATTTTATACATTGTGGTAAAACACATATAAAATTTACCATATTAAATATTTTTGGACAGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATCACAAGACGGGCGGATCACAAGGTCAGCCATTTGAGAACAGCCTGACCAACAGGGAGAAACCCCATCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCTGAGATCAAGCTCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCATCTCAAAAAAATATATATATGTTTTTAAGTGTACAGTTTAGTAGTGTTAAGTATATTCACATTGTTGTGCAACCTATGTCTAGAACTTTTTCATCTTGCAAAGCTGTAACTCTATACCCATTAAACAACTGCCTATTCCACCCCACCCCCATCAGCCCCTGGTAACTATCCTTCTACTTTGCGTCTGTGAATTTGAGTACTCTAAATACCCCATATAAATGTAATCATACAGTATTTGTCTTTTTGTGACTGGCTTATTCACTTAGCATAATGTCCTCAAGATTCATCCATGTTGTGGTATGTGTCACAATTTCCTTCCTTTTTACAGGTAATATTCCATTTATGTATATACCACATTTTGTTTATCCATTCATCCACTGAGGAACACTTGGGTTGCTTTTACCTCTTGGCTATTGTGAATAATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCATATTTAGTTGTCTCTCTTCATACCCGCTAGTTCAGCAACCAGTGAATACTCAGTGCATACTCCCTGACTAACCAGAGAAGGAAAAATATGAGCAAGAGCCTCTCCTTCTAGCAAAATCATGAATCCTGCTCACACAGGCATGCCAAACTCTCTGACAGCCCCCTTAGCTGAGTGCTGGTACAGCAGCCAACACACGCAGAAGGAAAGCAGGAATCCAGCCTGGAACCTGCAGTCCACAACCATCCAGAAGGGCTTCAGGATCTTGCCCCTCTCCCTTCACTCACCCAGTGGTTAGTGAAGTTCCCAGTGAGAATGGCAGGAGCAAAGGAGCGGGCAGGATTCATGCCTGCACCAGTATAATACATCTGCAAAAGAGACAGTTGTAACTGAGACACCCCCCTACTGCACCCCAGCTTCTCTCCCCACAACCCACATTGCCCCTGAGAGCTGCCATCTTTTCTCCAGCCAGCAGCAAGTGGAGAGGGACAGCCTGCATGACTCTCCAGGGGTTCCTGCAATGGGGTGAGGGCAACTGATGCCCTGTCTGGGAACAGACTATGGATCCATAGGCAAAGCCCATGTCTAGCCATGATACGTTCATTTCTACCTTGGGGTCAAGAAGGACTAGATATAGCAGTCACAAGAGAGGGATAGGGCAGAGTTGATTCCTTTGTGCCAGTAGAGAGTGCAATGGACAATGTTCATGTTTGACAGTGAAGTAGGCAGGAAGAACCCTTAAAAGTTGGGAAAGGTTTAGGGGCCCCGGAATCCTTGAATGAGAAGTTGCTCTCCTTCCTGCTTACCCCAAAGAGGTGCCCCAGGGCAAGGGAGAAGCCAACGGCCAGGGCCACGGAGCCCAGTTGGCCATTCCGCCTCTCGTCGTATGTGGCAAAGATGCAGAGCACGAACTGGAGCCTCAGGAAGATCTCCACTGTGGTTGCCTGGCCCACGCTCACCGCAGGGTGCAACTGTGCAAAGGAAGAAGAAGAGAGACAGCTCAGGAGGGCTGCCACAGTGTTACCTCCTCAAGACTTCCCCGGCAAGGATCTCGTTACGGCATCAGGTCCGTGGAGAGGAAGGATAATACAACCCCCTTCATAATCATTGTATTTGCATCTTACCATCTCCTAACAGTGCTCCTTCATGATGGAAATGATTGCAGCCACTTACATGTATGAGGAAACTGAGGCCTTGAAAGGTAAAATAAGTTTCCTTAAGAACCTGCAAGGAGTTGGAAGGAAAGCTGAAACTCAAACTCAGGTTTCTTAATTCTCAGTCCAGGGCCCTATGCCTTCCTTAAAGCTCTAAACCACCTGTCAATCCTCACCACTTCAACACACACATGCTCACACATGCACATATTGTCCCAGACCCCAGGGGAGCTGATTCACCTGCACCAGTCAGGGAGTCAGGGCAATAGAGAGACAGGACACCAGGTTCCCCATCCCCTCTCAGCCAACCATTACCGTGTTGAGTGCTAGGTTTCCTCGGACAGCAGGTGGGGTAACGCTATACAGCACAGCGGCCCCAGCCACAGCTCCCAGGAGCTGGGCTGCCATATAGCAGAAGGCACGGAGCAGGGACATCTGGGAGCCCACAAGGAAAGCAAAAGTGACTGCAGGATTGACGTGGGCTCCACTGATGTGGCCCACAGACTGCACCAGTGTAGCCAGGGCCAAGCCAAATGCCATAGCCACCTGCAGAACATGCAGGGGTCCAGGAGCCCAGCGCAGTGAGGACCCCAGCCCAAAGAAGACATAGAAGAGGGTGGCAAAGAACTCAGCGAATATGGCCCTCCAAAAGGAGGCTGATCGCAGTTCCCACATGGCAGGGGGGATGGTCACAGTGCCTGGGTCCCTGCTACCCCCATGGCCTTGTCTGGGTGGACAGTCCCCTTTATAGAGGACTCTTAATCCCTGGGAGGGGCAGGCTGAGGTAGCAGGCCCAGCCTCTTAACCCCTTCACAGCTGTGGAGGGCTAAGTCCCCTCCCCTACATGGTAAAAATGCTGGATTTTCCCGCCTTTCTCAACTGGGAGATGAGCCGAGAGAGCCATGGCAGTGAGGGTGGGATTGGGGTCACAGCAAGAGAGACTACGAGAAGTGGGGGTGAAGAACAGCAGGACTGGAAGAGTCTGCCCTTCTGTGTGTGTCAAAATTGGGGTTCATTGTCCTGATTGACATCAACATTAGAATACTCTTCAGCTCTCTTTGGAAGGTCCATCAAGCTGAGCTCACTTCATGGCATTTGGGGCTGAGCTCCTGGGGGCCTCAGCCTCCTCTGAGTCTGCCAGGGGTAAGGGTTGGGGGGAGTGGTAAGGAGTGGGGTTCAGCAGGGAAGTTGGATAACTAAAGAGAATTCTTTAGTTCCCAGGGATTAGAAGCCTTTCTCCCATTGGCTAGTTTGGGCTGGAATCTGTGGACCCTGCAGCTCTGGGACAAAATAGTTCTGCTGCGTCTGGCTTTCTCTGAGCCCGGGTTCCCTACCCCCAGTCCATGACAGCACCTCCCTTTTCAAACCCTAGGCCTGGCTTTTTAAACTACAGGGACCGACAGAGAGAAGACACTATCATCCCTGCATGGGCTGGGAGTGGGGTTGGAGGGATAGGAATAAGAAAGGGACTCGTAGTTAAACCTTAGAATCAGCTTGTATTTCATCTTTCCTAACTCACATGGTCATAGCAAGAAGTACTGAAAGGAAGGAAACAGTCATGGCTATGAAGCAATGGGAAGGTCTAATGTCCTTTAATACAGCCATGATCAGCACACCCTAAGCCTTGATCCCCAGGGAAAGGTATGGGTGTGCTGGGATCAGATCTGGGGAAACAGCCGATCAAAGAGAGGGAAAAGGATAATATGGGGAAGGAAAGTTTGGGGAAAGAGGTTCAGTTGTGCTCGGGCTTGGTGAGGGACTTGGGACCTAGGCGTGGGGTTGTGTGGTGATGGAGAAGGTAGAATGGGACAT
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Task1_train_17988
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Here’s a variant in MIP (major intrinsic protein of lens fiber) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Cataract 15 multiple types
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CTAGTTTGTATGTTGCTTTCAAAAAAATTTTATACATTGTGGTAAAACACATATAAAATTTACCATATTAAATATTTTTGGACAGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATCACAAGACGGGCGGATCACAAGGTCAGCCATTTGAGAACAGCCTGACCAACAGGGAGAAACCCCATCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCTGAGATCAAGCTCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCATCTCAAAAAAATATATATATGTTTTTAAGTGTACAGTTTAGTAGTGTTAAGTATATTCACATTGTTGTGCAACCTATGTCTAGAACTTTTTCATCTTGCAAAGCTGTAACTCTATACCCATTAAACAACTGCCTATTCCACCCCACCCCCATCAGCCCCTGGTAACTATCCTTCTACTTTGCGTCTGTGAATTTGAGTACTCTAAATACCCCATATAAATGTAATCATACAGTATTTGTCTTTTTGTGACTGGCTTATTCACTTAGCATAATGTCCTCAAGATTCATCCATGTTGTGGTATGTGTCACAATTTCCTTCCTTTTTACAGGTAATATTCCATTTATGTATATACCACATTTTGTTTATCCATTCATCCACTGAGGAACACTTGGGTTGCTTTTACCTCTTGGCTATTGTGAATAATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCATATTTAGTTGTCTCTCTTCATACCCGCTAGTTCAGCAACCAGTGAATACTCAGTGCATACTCCCTGACTAACCAGAGAAGGAAAAATATGAGCAAGAGCCTCTCCTTCTAGCAAAATCATGAATCCTGCTCACACAGGCATGCCAAACTCTCTGACAGCCCCCTTAGCTGAGTGCTGGTACAGCAGCCAACACACGCAGAAGGAAAGCAGGAATCCAGCCTGGAACCTGCAGTCCACAACCATCCAGAAGGGCTTCAGGATCTTGCCCCTCTCCCTTCACTCACCCAGTGGTTAGTGAAGTTCCCAGTGAGAATGGCAGGAGCAAAGGAGCGGGCAGGATTCATGCCTGCACCAGTATAATACATCTGCAAAAGAGACAGTTGTAACTGAGACACCCCCCTACTGCACCCCAGCTTCTCTCCCCACAACCCACATTGCCCCTGAGAGCTGCCATCTTTTCTCCAGCCAGCAGCAAGTGGAGAGGGACAGCCTGCATGACTCTCCAGGGGTTCCTGCAATGGGGTGAGGGCAACTGATGCCCTGTCTGGGAACAGACTATGGATCCATAGGCAAAGCCCATGTCTAGCCATGATACGTTCATTTCTACCTTGGGGTCAAGAAGGACTAGATATAGCAGTCACAAGAGAGGGATAGGGCAGAGTTGATTCCTTTGTGCCAGTAGAGAGTGCAATGGACAATGTTCATGTTTGACAGTGAAGTAGGCAGGAAGAACCCTTAAAAGTTGGGAAAGGTTTAGGGGCCCCGGAATCCTTGAATGAGAAGTTGCTCTCCTTCCTGCTTACCCCAAAGAGGTGCCCCAGGGCAAGGGAGAAGCCAACGGCCAGGGCCACGGAGCCCAGTTGGCCATTCCGCCTCTCGTCGTATGTGGCAAAGATGCAGAGCACGAACTGGAGCGTCAGGAAGATCTCCACTGTGGTTGCCTGGCCCACGCTCACCGCAGGGTGCAACTGTGCAAAGGAAGAAGAAGAGAGACAGCTCAGGAGGGCTGCCACAGTGTTACCTCCTCAAGACTTCCCCGGCAAGGATCTCGTTACGGCATCAGGTCCGTGGAGAGGAAGGATAATACAACCCCCTTCATAATCATTGTATTTGCATCTTACCATCTCCTAACAGTGCTCCTTCATGATGGAAATGATTGCAGCCACTTACATGTATGAGGAAACTGAGGCCTTGAAAGGTAAAATAAGTTTCCTTAAGAACCTGCAAGGAGTTGGAAGGAAAGCTGAAACTCAAACTCAGGTTTCTTAATTCTCAGTCCAGGGCCCTATGCCTTCCTTAAAGCTCTAAACCACCTGTCAATCCTCACCACTTCAACACACACATGCTCACACATGCACATATTGTCCCAGACCCCAGGGGAGCTGATTCACCTGCACCAGTCAGGGAGTCAGGGCAATAGAGAGACAGGACACCAGGTTCCCCATCCCCTCTCAGCCAACCATTACCGTGTTGAGTGCTAGGTTTCCTCGGACAGCAGGTGGGGTAACGCTATACAGCACAGCGGCCCCAGCCACAGCTCCCAGGAGCTGGGCTGCCATATAGCAGAAGGCACGGAGCAGGGACATCTGGGAGCCCACAAGGAAAGCAAAAGTGACTGCAGGATTGACGTGGGCTCCACTGATGTGGCCCACAGACTGCACCAGTGTAGCCAGGGCCAAGCCAAATGCCATAGCCACCTGCAGAACATGCAGGGGTCCAGGAGCCCAGCGCAGTGAGGACCCCAGCCCAAAGAAGACATAGAAGAGGGTGGCAAAGAACTCAGCGAATATGGCCCTCCAAAAGGAGGCTGATCGCAGTTCCCACATGGCAGGGGGGATGGTCACAGTGCCTGGGTCCCTGCTACCCCCATGGCCTTGTCTGGGTGGACAGTCCCCTTTATAGAGGACTCTTAATCCCTGGGAGGGGCAGGCTGAGGTAGCAGGCCCAGCCTCTTAACCCCTTCACAGCTGTGGAGGGCTAAGTCCCCTCCCCTACATGGTAAAAATGCTGGATTTTCCCGCCTTTCTCAACTGGGAGATGAGCCGAGAGAGCCATGGCAGTGAGGGTGGGATTGGGGTCACAGCAAGAGAGACTACGAGAAGTGGGGGTGAAGAACAGCAGGACTGGAAGAGTCTGCCCTTCTGTGTGTGTCAAAATTGGGGTTCATTGTCCTGATTGACATCAACATTAGAATACTCTTCAGCTCTCTTTGGAAGGTCCATCAAGCTGAGCTCACTTCATGGCATTTGGGGCTGAGCTCCTGGGGGCCTCAGCCTCCTCTGAGTCTGCCAGGGGTAAGGGTTGGGGGGAGTGGTAAGGAGTGGGGTTCAGCAGGGAAGTTGGATAACTAAAGAGAATTCTTTAGTTCCCAGGGATTAGAAGCCTTTCTCCCATTGGCTAGTTTGGGCTGGAATCTGTGGACCCTGCAGCTCTGGGACAAAATAGTTCTGCTGCGTCTGGCTTTCTCTGAGCCCGGGTTCCCTACCCCCAGTCCATGACAGCACCTCCCTTTTCAAACCCTAGGCCTGGCTTTTTAAACTACAGGGACCGACAGAGAGAAGACACTATCATCCCTGCATGGGCTGGGAGTGGGGTTGGAGGGATAGGAATAAGAAAGGGACTCGTAGTTAAACCTTAGAATCAGCTTGTATTTCATCTTTCCTAACTCACATGGTCATAGCAAGAAGTACTGAAAGGAAGGAAACAGTCATGGCTATGAAGCAATGGGAAGGTCTAATGTCCTTTAATACAGCCATGATCAGCACACCCTAAGCCTTGATCCCCAGGGAAAGGTATGGGTGTGCTGGGATCAGATCTGGGGAAACAGCCGATCAAAGAGAGGGAAAAGGATAATATGGGGAAGGAAAGTTTGGGGAAAGAGGTTCAGTTGTGCTCGGGCTTGGTGAGGGACTTGGGACCTAGGCGTGGGGTTGTGTGGTGATGGAGAAGGTAGAATGGGACATACTGATAGGTTC
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CTAGTTTGTATGTTGCTTTCAAAAAAATTTTATACATTGTGGTAAAACACATATAAAATTTACCATATTAAATATTTTTGGACAGGCGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATCACAAGACGGGCGGATCACAAGGTCAGCCATTTGAGAACAGCCTGACCAACAGGGAGAAACCCCATCTCTACTAAAAATACAAAAAGTAGCTGGGCGTGGTGGCAGGCGCCTGAAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCCTGAGATCAAGCTCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCATCTCAAAAAAATATATATATGTTTTTAAGTGTACAGTTTAGTAGTGTTAAGTATATTCACATTGTTGTGCAACCTATGTCTAGAACTTTTTCATCTTGCAAAGCTGTAACTCTATACCCATTAAACAACTGCCTATTCCACCCCACCCCCATCAGCCCCTGGTAACTATCCTTCTACTTTGCGTCTGTGAATTTGAGTACTCTAAATACCCCATATAAATGTAATCATACAGTATTTGTCTTTTTGTGACTGGCTTATTCACTTAGCATAATGTCCTCAAGATTCATCCATGTTGTGGTATGTGTCACAATTTCCTTCCTTTTTACAGGTAATATTCCATTTATGTATATACCACATTTTGTTTATCCATTCATCCACTGAGGAACACTTGGGTTGCTTTTACCTCTTGGCTATTGTGAATAATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCATATTTAGTTGTCTCTCTTCATACCCGCTAGTTCAGCAACCAGTGAATACTCAGTGCATACTCCCTGACTAACCAGAGAAGGAAAAATATGAGCAAGAGCCTCTCCTTCTAGCAAAATCATGAATCCTGCTCACACAGGCATGCCAAACTCTCTGACAGCCCCCTTAGCTGAGTGCTGGTACAGCAGCCAACACACGCAGAAGGAAAGCAGGAATCCAGCCTGGAACCTGCAGTCCACAACCATCCAGAAGGGCTTCAGGATCTTGCCCCTCTCCCTTCACTCACCCAGTGGTTAGTGAAGTTCCCAGTGAGAATGGCAGGAGCAAAGGAGCGGGCAGGATTCATGCCTGCACCAGTATAATACATCTGCAAAAGAGACAGTTGTAACTGAGACACCCCCCTACTGCACCCCAGCTTCTCTCCCCACAACCCACATTGCCCCTGAGAGCTGCCATCTTTTCTCCAGCCAGCAGCAAGTGGAGAGGGACAGCCTGCATGACTCTCCAGGGGTTCCTGCAATGGGGTGAGGGCAACTGATGCCCTGTCTGGGAACAGACTATGGATCCATAGGCAAAGCCCATGTCTAGCCATGATACGTTCATTTCTACCTTGGGGTCAAGAAGGACTAGATATAGCAGTCACAAGAGAGGGATAGGGCAGAGTTGATTCCTTTGTGCCAGTAGAGAGTGCAATGGACAATGTTCATGTTTGACAGTGAAGTAGGCAGGAAGAACCCTTAAAAGTTGGGAAAGGTTTAGGGGCCCCGGAATCCTTGAATGAGAAGTTGCTCTCCTTCCTGCTTACCCCAAAGAGGTGCCCCAGGGCAAGGGAGAAGCCAACGGCCAGGGCCACGGAGCCCAGTTGGCCATTCCGCCTCTCGTCGTATGTGGCAAAGATGCAGAGCACGAACTGGAGCGTCAGGAAGATCCCCACTGTGGTTGCCTGGCCCACGCTCACCGCAGGGTGCAACTGTGCAAAGGAAGAAGAAGAGAGACAGCTCAGGAGGGCTGCCACAGTGTTACCTCCTCAAGACTTCCCCGGCAAGGATCTCGTTACGGCATCAGGTCCGTGGAGAGGAAGGATAATACAACCCCCTTCATAATCATTGTATTTGCATCTTACCATCTCCTAACAGTGCTCCTTCATGATGGAAATGATTGCAGCCACTTACATGTATGAGGAAACTGAGGCCTTGAAAGGTAAAATAAGTTTCCTTAAGAACCTGCAAGGAGTTGGAAGGAAAGCTGAAACTCAAACTCAGGTTTCTTAATTCTCAGTCCAGGGCCCTATGCCTTCCTTAAAGCTCTAAACCACCTGTCAATCCTCACCACTTCAACACACACATGCTCACACATGCACATATTGTCCCAGACCCCAGGGGAGCTGATTCACCTGCACCAGTCAGGGAGTCAGGGCAATAGAGAGACAGGACACCAGGTTCCCCATCCCCTCTCAGCCAACCATTACCGTGTTGAGTGCTAGGTTTCCTCGGACAGCAGGTGGGGTAACGCTATACAGCACAGCGGCCCCAGCCACAGCTCCCAGGAGCTGGGCTGCCATATAGCAGAAGGCACGGAGCAGGGACATCTGGGAGCCCACAAGGAAAGCAAAAGTGACTGCAGGATTGACGTGGGCTCCACTGATGTGGCCCACAGACTGCACCAGTGTAGCCAGGGCCAAGCCAAATGCCATAGCCACCTGCAGAACATGCAGGGGTCCAGGAGCCCAGCGCAGTGAGGACCCCAGCCCAAAGAAGACATAGAAGAGGGTGGCAAAGAACTCAGCGAATATGGCCCTCCAAAAGGAGGCTGATCGCAGTTCCCACATGGCAGGGGGGATGGTCACAGTGCCTGGGTCCCTGCTACCCCCATGGCCTTGTCTGGGTGGACAGTCCCCTTTATAGAGGACTCTTAATCCCTGGGAGGGGCAGGCTGAGGTAGCAGGCCCAGCCTCTTAACCCCTTCACAGCTGTGGAGGGCTAAGTCCCCTCCCCTACATGGTAAAAATGCTGGATTTTCCCGCCTTTCTCAACTGGGAGATGAGCCGAGAGAGCCATGGCAGTGAGGGTGGGATTGGGGTCACAGCAAGAGAGACTACGAGAAGTGGGGGTGAAGAACAGCAGGACTGGAAGAGTCTGCCCTTCTGTGTGTGTCAAAATTGGGGTTCATTGTCCTGATTGACATCAACATTAGAATACTCTTCAGCTCTCTTTGGAAGGTCCATCAAGCTGAGCTCACTTCATGGCATTTGGGGCTGAGCTCCTGGGGGCCTCAGCCTCCTCTGAGTCTGCCAGGGGTAAGGGTTGGGGGGAGTGGTAAGGAGTGGGGTTCAGCAGGGAAGTTGGATAACTAAAGAGAATTCTTTAGTTCCCAGGGATTAGAAGCCTTTCTCCCATTGGCTAGTTTGGGCTGGAATCTGTGGACCCTGCAGCTCTGGGACAAAATAGTTCTGCTGCGTCTGGCTTTCTCTGAGCCCGGGTTCCCTACCCCCAGTCCATGACAGCACCTCCCTTTTCAAACCCTAGGCCTGGCTTTTTAAACTACAGGGACCGACAGAGAGAAGACACTATCATCCCTGCATGGGCTGGGAGTGGGGTTGGAGGGATAGGAATAAGAAAGGGACTCGTAGTTAAACCTTAGAATCAGCTTGTATTTCATCTTTCCTAACTCACATGGTCATAGCAAGAAGTACTGAAAGGAAGGAAACAGTCATGGCTATGAAGCAATGGGAAGGTCTAATGTCCTTTAATACAGCCATGATCAGCACACCCTAAGCCTTGATCCCCAGGGAAAGGTATGGGTGTGCTGGGATCAGATCTGGGGAAACAGCCGATCAAAGAGAGGGAAAAGGATAATATGGGGAAGGAAAGTTTGGGGAAAGAGGTTCAGTTGTGCTCGGGCTTGGTGAGGGACTTGGGACCTAGGCGTGGGGTTGTGTGGTGATGGAGAAGGTAGAATGGGACATACTGATAGGTTC
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Task1_train_17989
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Mutation context: Chromosome 12, Gene MIP (major intrinsic protein of lens fiber). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Persistent hyperplastic primary vitreous
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AATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCATATTTAGTTGTCTCTCTTCATACCCGCTAGTTCAGCAACCAGTGAATACTCAGTGCATACTCCCTGACTAACCAGAGAAGGAAAAATATGAGCAAGAGCCTCTCCTTCTAGCAAAATCATGAATCCTGCTCACACAGGCATGCCAAACTCTCTGACAGCCCCCTTAGCTGAGTGCTGGTACAGCAGCCAACACACGCAGAAGGAAAGCAGGAATCCAGCCTGGAACCTGCAGTCCACAACCATCCAGAAGGGCTTCAGGATCTTGCCCCTCTCCCTTCACTCACCCAGTGGTTAGTGAAGTTCCCAGTGAGAATGGCAGGAGCAAAGGAGCGGGCAGGATTCATGCCTGCACCAGTATAATACATCTGCAAAAGAGACAGTTGTAACTGAGACACCCCCCTACTGCACCCCAGCTTCTCTCCCCACAACCCACATTGCCCCTGAGAGCTGCCATCTTTTCTCCAGCCAGCAGCAAGTGGAGAGGGACAGCCTGCATGACTCTCCAGGGGTTCCTGCAATGGGGTGAGGGCAACTGATGCCCTGTCTGGGAACAGACTATGGATCCATAGGCAAAGCCCATGTCTAGCCATGATACGTTCATTTCTACCTTGGGGTCAAGAAGGACTAGATATAGCAGTCACAAGAGAGGGATAGGGCAGAGTTGATTCCTTTGTGCCAGTAGAGAGTGCAATGGACAATGTTCATGTTTGACAGTGAAGTAGGCAGGAAGAACCCTTAAAAGTTGGGAAAGGTTTAGGGGCCCCGGAATCCTTGAATGAGAAGTTGCTCTCCTTCCTGCTTACCCCAAAGAGGTGCCCCAGGGCAAGGGAGAAGCCAACGGCCAGGGCCACGGAGCCCAGTTGGCCATTCCGCCTCTCGTCGTATGTGGCAAAGATGCAGAGCACGAACTGGAGCGTCAGGAAGATCTCCACTGTGGTTGCCTGGCCCACGCTCACCGCAGGGTGCAACTGTGCAAAGGAAGAAGAAGAGAGACAGCTCAGGAGGGCTGCCACAGTGTTACCTCCTCAAGACTTCCCCGGCAAGGATCTCGTTACGGCATCAGGTCCGTGGAGAGGAAGGATAATACAACCCCCTTCATAATCATTGTATTTGCATCTTACCATCTCCTAACAGTGCTCCTTCATGATGGAAATGATTGCAGCCACTTACATGTATGAGGAAACTGAGGCCTTGAAAGGTAAAATAAGTTTCCTTAAGAACCTGCAAGGAGTTGGAAGGAAAGCTGAAACTCAAACTCAGGTTTCTTAATTCTCAGTCCAGGGCCCTATGCCTTCCTTAAAGCTCTAAACCACCTGTCAATCCTCACCACTTCAACACACACATGCTCACACATGCACATATTGTCCCAGACCCCAGGGGAGCTGATTCACCTGCACCAGTCAGGGAGTCAGGGCAATAGAGAGACAGGACACCAGGTTCCCCATCCCCTCTCAGCCAACCATTACCGTGTTGAGTGCTAGGTTTCCTCGGACAGCAGGTGGGGTAACGCTATACAGCACAGCGGCCCCAGCCACAGCTCCCAGGAGCTGGGCTGCCATATAGCAGAAGGCACGGAGCAGGGACATCTGGGAGCCCACAAGGAAAGCAAAAGTGACTGCAGGATTGACGTGGGCTCCACTGATGTGGCCCACAGACTGCACCAGTGTAGCCAGGGCCAAGCCAAATGCCATAGCCACCTGCAGAACATGCAGGGGTCCAGGAGCCCAGCGCAGTGAGGACCCCAGCCCAAAGAAGACATAGAAGAGGGTGGCAAAGAACTCAGCGAATATGGCCCTCCAAAAGGAGGCTGATCGCAGTTCCCACATGGCAGGGGGGATGGTCACAGTGCCTGGGTCCCTGCTACCCCCATGGCCTTGTCTGGGTGGACAGTCCCCTTTATAGAGGACTCTTAATCCCTGGGAGGGGCAGGCTGAGGTAGCAGGCCCAGCCTCTTAACCCCTTCACAGCTGTGGAGGGCTAAGTCCCCTCCCCTACATGGTAAAAATGCTGGATTTTCCCGCCTTTCTCAACTGGGAGATGAGCCGAGAGAGCCATGGCAGTGAGGGTGGGATTGGGGTCACAGCAAGAGAGACTACGAGAAGTGGGGGTGAAGAACAGCAGGACTGGAAGAGTCTGCCCTTCTGTGTGTGTCAAAATTGGGGTTCATTGTCCTGATTGACATCAACATTAGAATACTCTTCAGCTCTCTTTGGAAGGTCCATCAAGCTGAGCTCACTTCATGGCATTTGGGGCTGAGCTCCTGGGGGCCTCAGCCTCCTCTGAGTCTGCCAGGGGTAAGGGTTGGGGGGAGTGGTAAGGAGTGGGGTTCAGCAGGGAAGTTGGATAACTAAAGAGAATTCTTTAGTTCCCAGGGATTAGAAGCCTTTCTCCCATTGGCTAGTTTGGGCTGGAATCTGTGGACCCTGCAGCTCTGGGACAAAATAGTTCTGCTGCGTCTGGCTTTCTCTGAGCCCGGGTTCCCTACCCCCAGTCCATGACAGCACCTCCCTTTTCAAACCCTAGGCCTGGCTTTTTAAACTACAGGGACCGACAGAGAGAAGACACTATCATCCCTGCATGGGCTGGGAGTGGGGTTGGAGGGATAGGAATAAGAAAGGGACTCGTAGTTAAACCTTAGAATCAGCTTGTATTTCATCTTTCCTAACTCACATGGTCATAGCAAGAAGTACTGAAAGGAAGGAAACAGTCATGGCTATGAAGCAATGGGAAGGTCTAATGTCCTTTAATACAGCCATGATCAGCACACCCTAAGCCTTGATCCCCAGGGAAAGGTATGGGTGTGCTGGGATCAGATCTGGGGAAACAGCCGATCAAAGAGAGGGAAAAGGATAATATGGGGAAGGAAAGTTTGGGGAAAGAGGTTCAGTTGTGCTCGGGCTTGGTGAGGGACTTGGGACCTAGGCGTGGGGTTGTGTGGTGATGGAGAAGGTAGAATGGGACATACTGATAGGTTCTACCATCTCCACATAGTGGCAAGTCATACCGGCCACAAACTTTTCTCATGAAGCACCAGAGAGCAGAAATTCGAGGTGAGGCCTGCAAGAATGGTGCCCAGCATGGGTCCTACCCAGTACACCTGTGGGGAGAGAGAAGGAACACAGATCAGGGGCTGTGCTTTCTCCTCATAATACCCAGCTTGGGGATGGACAGAAAGAGAGTTATAGTGAAGGTAGAGGGTCCATCTAACCTATCCACTGGCAGGAAGAGTTGCTGAGAACAGGTCAGAGAGCACCCAAAGGGTTTGGAGCTCTCAATTACATAGAAGAGAAACAGTCCACTAGAAGTCATTGGAATCTCCTATATTCTAGAAGCCTCATCAGTCTCCTGACTTAAGGCCCTGTAACCCTCAGTGCATCTCACCCAGTAATGCTCCCAGATCCCAGTCACCACTGCTGGCCTCAGGAAGCATGCAGGGTTCACACTGCCTCCAGAAAAGTTCCCCTGGACAGGATAAAGAGAGAGGGTAGCACATCATGGTGTTAAGAGCAGAGATTTTGGCCACAGATACTCTGGTCCAATTAGGTGAGGATAAAAAGTGACAGAACCAGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAACGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAATGAAACCCCGTCTCTACTAAAAATACGAAAAATTAGCTGGCCATGGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGTTGGAACCCGG
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AATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCATATTTAGTTGTCTCTCTTCATACCCGCTAGTTCAGCAACCAGTGAATACTCAGTGCATACTCCCTGACTAACCAGAGAAGGAAAAATATGAGCAAGAGCCTCTCCTTCTAGCAAAATCATGAATCCTGCTCACACAGGCATGCCAAACTCTCTGACAGCCCCCTTAGCTGAGTGCTGGTACAGCAGCCAACACACGCAGAAGGAAAGCAGGAATCCAGCCTGGAACCTGCAGTCCACAACCATCCAGAAGGGCTTCAGGATCTTGCCCCTCTCCCTTCACTCACCCAGTGGTTAGTGAAGTTCCCAGTGAGAATGGCAGGAGCAAAGGAGCGGGCAGGATTCATGCCTGCACCAGTATAATACATCTGCAAAAGAGACAGTTGTAACTGAGACACCCCCCTACTGCACCCCAGCTTCTCTCCCCACAACCCACATTGCCCCTGAGAGCTGCCATCTTTTCTCCAGCCAGCAGCAAGTGGAGAGGGACAGCCTGCATGACTCTCCAGGGGTTCCTGCAATGGGGTGAGGGCAACTGATGCCCTGTCTGGGAACAGACTATGGATCCATAGGCAAAGCCCATGTCTAGCCATGATACGTTCATTTCTACCTTGGGGTCAAGAAGGACTAGATATAGCAGTCACAAGAGAGGGATAGGGCAGAGTTGATTCCTTTGTGCCAGTAGAGAGTGCAATGGACAATGTTCATGTTTGACAGTGAAGTAGGCAGGAAGAACCCTTAAAAGTTGGGAAAGGTTTAGGGGCCCCGGAATCCTTGAATGAGAAGTTGCTCTCCTTCCTGCTTACCCCAAAGAGGTGCCCCAGGGCAAGGGAGAAGCCAACGGCCAGGGCCACGGAGCCCAGTTGGCCATTCCGCCTCTCGTCGTATGTGGCAAAGATGCAGAGCACGAACTGGAGCGTCAGGAAGATCTCCACTGTGGTTGCCTGGCCCACGCTCACCGCAGGGTGCAACTGTGCAAAGGAAGAAGAAGAGAGACAGCTCAGGAGGGCTGCCACAGTGTTACCTCCTCAAGACTTCCCCGGCAAGGATCTCGTTACGGCATCAGGTCCGTGGAGAGGAAGGATAATACAACCCCCTTCATAATCATTGTATTTGCATCTTACCATCTCCTAACAGTGCTCCTTCATGATGGAAATGATTGCAGCCACTTACATGTATGAGGAAACTGAGGCCTTGAAAGGTAAAATAAGTTTCCTTAAGAACCTGCAAGGAGTTGGAAGGAAAGCTGAAACTCAAACTCAGGTTTCTTAATTCTCAGTCCAGGGCCCTATGCCTTCCTTAAAGCTCTAAACCACCTGTCAATCCTCACCACTTCAACACACACATGCTCACACATGCACATATTGTCCCAGACCCCAGGGGAGCTGATTCACCTGCACCAGTCAGGGAGTCAGGGCAATAGAGAGACAGGACACCAGGTTCCCCATCCCCTCTCAGCCAACCATTACCGTGTTGAGTGCTAGGTTTCCTCGGACAGCAGGTGGGGTAACGCTATACAGCACAGCGGCCCCAGCCACAGCTCCCAGGAGCTGGGCTGCCATATAGCAGAAGGCACGGAGCAGGGACATCTGGGAGCCCACAAGGAAAGCAAAAGTGACTGCAGGATTGACGTGGGCTCCACTGATGTGGCCCACAGACTGCACCAGTGTAGCCAGGGCCAAGCCAAATGCCATAGCCACCTGCAGAACATGCAGGGGTCCAGGAGCCCAGCACAGTGAGGACCCCAGCCCAAAGAAGACATAGAAGAGGGTGGCAAAGAACTCAGCGAATATGGCCCTCCAAAAGGAGGCTGATCGCAGTTCCCACATGGCAGGGGGGATGGTCACAGTGCCTGGGTCCCTGCTACCCCCATGGCCTTGTCTGGGTGGACAGTCCCCTTTATAGAGGACTCTTAATCCCTGGGAGGGGCAGGCTGAGGTAGCAGGCCCAGCCTCTTAACCCCTTCACAGCTGTGGAGGGCTAAGTCCCCTCCCCTACATGGTAAAAATGCTGGATTTTCCCGCCTTTCTCAACTGGGAGATGAGCCGAGAGAGCCATGGCAGTGAGGGTGGGATTGGGGTCACAGCAAGAGAGACTACGAGAAGTGGGGGTGAAGAACAGCAGGACTGGAAGAGTCTGCCCTTCTGTGTGTGTCAAAATTGGGGTTCATTGTCCTGATTGACATCAACATTAGAATACTCTTCAGCTCTCTTTGGAAGGTCCATCAAGCTGAGCTCACTTCATGGCATTTGGGGCTGAGCTCCTGGGGGCCTCAGCCTCCTCTGAGTCTGCCAGGGGTAAGGGTTGGGGGGAGTGGTAAGGAGTGGGGTTCAGCAGGGAAGTTGGATAACTAAAGAGAATTCTTTAGTTCCCAGGGATTAGAAGCCTTTCTCCCATTGGCTAGTTTGGGCTGGAATCTGTGGACCCTGCAGCTCTGGGACAAAATAGTTCTGCTGCGTCTGGCTTTCTCTGAGCCCGGGTTCCCTACCCCCAGTCCATGACAGCACCTCCCTTTTCAAACCCTAGGCCTGGCTTTTTAAACTACAGGGACCGACAGAGAGAAGACACTATCATCCCTGCATGGGCTGGGAGTGGGGTTGGAGGGATAGGAATAAGAAAGGGACTCGTAGTTAAACCTTAGAATCAGCTTGTATTTCATCTTTCCTAACTCACATGGTCATAGCAAGAAGTACTGAAAGGAAGGAAACAGTCATGGCTATGAAGCAATGGGAAGGTCTAATGTCCTTTAATACAGCCATGATCAGCACACCCTAAGCCTTGATCCCCAGGGAAAGGTATGGGTGTGCTGGGATCAGATCTGGGGAAACAGCCGATCAAAGAGAGGGAAAAGGATAATATGGGGAAGGAAAGTTTGGGGAAAGAGGTTCAGTTGTGCTCGGGCTTGGTGAGGGACTTGGGACCTAGGCGTGGGGTTGTGTGGTGATGGAGAAGGTAGAATGGGACATACTGATAGGTTCTACCATCTCCACATAGTGGCAAGTCATACCGGCCACAAACTTTTCTCATGAAGCACCAGAGAGCAGAAATTCGAGGTGAGGCCTGCAAGAATGGTGCCCAGCATGGGTCCTACCCAGTACACCTGTGGGGAGAGAGAAGGAACACAGATCAGGGGCTGTGCTTTCTCCTCATAATACCCAGCTTGGGGATGGACAGAAAGAGAGTTATAGTGAAGGTAGAGGGTCCATCTAACCTATCCACTGGCAGGAAGAGTTGCTGAGAACAGGTCAGAGAGCACCCAAAGGGTTTGGAGCTCTCAATTACATAGAAGAGAAACAGTCCACTAGAAGTCATTGGAATCTCCTATATTCTAGAAGCCTCATCAGTCTCCTGACTTAAGGCCCTGTAACCCTCAGTGCATCTCACCCAGTAATGCTCCCAGATCCCAGTCACCACTGCTGGCCTCAGGAAGCATGCAGGGTTCACACTGCCTCCAGAAAAGTTCCCCTGGACAGGATAAAGAGAGAGGGTAGCACATCATGGTGTTAAGAGCAGAGATTTTGGCCACAGATACTCTGGTCCAATTAGGTGAGGATAAAAAGTGACAGAACCAGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAACGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAATGAAACCCCGTCTCTACTAAAAATACGAAAAATTAGCTGGCCATGGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGTTGGAACCCGG
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Task1_train_17990
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A variant was discovered on Chromosome 12, affecting MIP (major intrinsic protein of lens fiber). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Cataract 15 multiple types
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AATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCATATTTAGTTGTCTCTCTTCATACCCGCTAGTTCAGCAACCAGTGAATACTCAGTGCATACTCCCTGACTAACCAGAGAAGGAAAAATATGAGCAAGAGCCTCTCCTTCTAGCAAAATCATGAATCCTGCTCACACAGGCATGCCAAACTCTCTGACAGCCCCCTTAGCTGAGTGCTGGTACAGCAGCCAACACACGCAGAAGGAAAGCAGGAATCCAGCCTGGAACCTGCAGTCCACAACCATCCAGAAGGGCTTCAGGATCTTGCCCCTCTCCCTTCACTCACCCAGTGGTTAGTGAAGTTCCCAGTGAGAATGGCAGGAGCAAAGGAGCGGGCAGGATTCATGCCTGCACCAGTATAATACATCTGCAAAAGAGACAGTTGTAACTGAGACACCCCCCTACTGCACCCCAGCTTCTCTCCCCACAACCCACATTGCCCCTGAGAGCTGCCATCTTTTCTCCAGCCAGCAGCAAGTGGAGAGGGACAGCCTGCATGACTCTCCAGGGGTTCCTGCAATGGGGTGAGGGCAACTGATGCCCTGTCTGGGAACAGACTATGGATCCATAGGCAAAGCCCATGTCTAGCCATGATACGTTCATTTCTACCTTGGGGTCAAGAAGGACTAGATATAGCAGTCACAAGAGAGGGATAGGGCAGAGTTGATTCCTTTGTGCCAGTAGAGAGTGCAATGGACAATGTTCATGTTTGACAGTGAAGTAGGCAGGAAGAACCCTTAAAAGTTGGGAAAGGTTTAGGGGCCCCGGAATCCTTGAATGAGAAGTTGCTCTCCTTCCTGCTTACCCCAAAGAGGTGCCCCAGGGCAAGGGAGAAGCCAACGGCCAGGGCCACGGAGCCCAGTTGGCCATTCCGCCTCTCGTCGTATGTGGCAAAGATGCAGAGCACGAACTGGAGCGTCAGGAAGATCTCCACTGTGGTTGCCTGGCCCACGCTCACCGCAGGGTGCAACTGTGCAAAGGAAGAAGAAGAGAGACAGCTCAGGAGGGCTGCCACAGTGTTACCTCCTCAAGACTTCCCCGGCAAGGATCTCGTTACGGCATCAGGTCCGTGGAGAGGAAGGATAATACAACCCCCTTCATAATCATTGTATTTGCATCTTACCATCTCCTAACAGTGCTCCTTCATGATGGAAATGATTGCAGCCACTTACATGTATGAGGAAACTGAGGCCTTGAAAGGTAAAATAAGTTTCCTTAAGAACCTGCAAGGAGTTGGAAGGAAAGCTGAAACTCAAACTCAGGTTTCTTAATTCTCAGTCCAGGGCCCTATGCCTTCCTTAAAGCTCTAAACCACCTGTCAATCCTCACCACTTCAACACACACATGCTCACACATGCACATATTGTCCCAGACCCCAGGGGAGCTGATTCACCTGCACCAGTCAGGGAGTCAGGGCAATAGAGAGACAGGACACCAGGTTCCCCATCCCCTCTCAGCCAACCATTACCGTGTTGAGTGCTAGGTTTCCTCGGACAGCAGGTGGGGTAACGCTATACAGCACAGCGGCCCCAGCCACAGCTCCCAGGAGCTGGGCTGCCATATAGCAGAAGGCACGGAGCAGGGACATCTGGGAGCCCACAAGGAAAGCAAAAGTGACTGCAGGATTGACGTGGGCTCCACTGATGTGGCCCACAGACTGCACCAGTGTAGCCAGGGCCAAGCCAAATGCCATAGCCACCTGCAGAACATGCAGGGGTCCAGGAGCCCAGCGCAGTGAGGACCCCAGCCCAAAGAAGACATAGAAGAGGGTGGCAAAGAACTCAGCGAATATGGCCCTCCAAAAGGAGGCTGATCGCAGTTCCCACATGGCAGGGGGGATGGTCACAGTGCCTGGGTCCCTGCTACCCCCATGGCCTTGTCTGGGTGGACAGTCCCCTTTATAGAGGACTCTTAATCCCTGGGAGGGGCAGGCTGAGGTAGCAGGCCCAGCCTCTTAACCCCTTCACAGCTGTGGAGGGCTAAGTCCCCTCCCCTACATGGTAAAAATGCTGGATTTTCCCGCCTTTCTCAACTGGGAGATGAGCCGAGAGAGCCATGGCAGTGAGGGTGGGATTGGGGTCACAGCAAGAGAGACTACGAGAAGTGGGGGTGAAGAACAGCAGGACTGGAAGAGTCTGCCCTTCTGTGTGTGTCAAAATTGGGGTTCATTGTCCTGATTGACATCAACATTAGAATACTCTTCAGCTCTCTTTGGAAGGTCCATCAAGCTGAGCTCACTTCATGGCATTTGGGGCTGAGCTCCTGGGGGCCTCAGCCTCCTCTGAGTCTGCCAGGGGTAAGGGTTGGGGGGAGTGGTAAGGAGTGGGGTTCAGCAGGGAAGTTGGATAACTAAAGAGAATTCTTTAGTTCCCAGGGATTAGAAGCCTTTCTCCCATTGGCTAGTTTGGGCTGGAATCTGTGGACCCTGCAGCTCTGGGACAAAATAGTTCTGCTGCGTCTGGCTTTCTCTGAGCCCGGGTTCCCTACCCCCAGTCCATGACAGCACCTCCCTTTTCAAACCCTAGGCCTGGCTTTTTAAACTACAGGGACCGACAGAGAGAAGACACTATCATCCCTGCATGGGCTGGGAGTGGGGTTGGAGGGATAGGAATAAGAAAGGGACTCGTAGTTAAACCTTAGAATCAGCTTGTATTTCATCTTTCCTAACTCACATGGTCATAGCAAGAAGTACTGAAAGGAAGGAAACAGTCATGGCTATGAAGCAATGGGAAGGTCTAATGTCCTTTAATACAGCCATGATCAGCACACCCTAAGCCTTGATCCCCAGGGAAAGGTATGGGTGTGCTGGGATCAGATCTGGGGAAACAGCCGATCAAAGAGAGGGAAAAGGATAATATGGGGAAGGAAAGTTTGGGGAAAGAGGTTCAGTTGTGCTCGGGCTTGGTGAGGGACTTGGGACCTAGGCGTGGGGTTGTGTGGTGATGGAGAAGGTAGAATGGGACATACTGATAGGTTCTACCATCTCCACATAGTGGCAAGTCATACCGGCCACAAACTTTTCTCATGAAGCACCAGAGAGCAGAAATTCGAGGTGAGGCCTGCAAGAATGGTGCCCAGCATGGGTCCTACCCAGTACACCTGTGGGGAGAGAGAAGGAACACAGATCAGGGGCTGTGCTTTCTCCTCATAATACCCAGCTTGGGGATGGACAGAAAGAGAGTTATAGTGAAGGTAGAGGGTCCATCTAACCTATCCACTGGCAGGAAGAGTTGCTGAGAACAGGTCAGAGAGCACCCAAAGGGTTTGGAGCTCTCAATTACATAGAAGAGAAACAGTCCACTAGAAGTCATTGGAATCTCCTATATTCTAGAAGCCTCATCAGTCTCCTGACTTAAGGCCCTGTAACCCTCAGTGCATCTCACCCAGTAATGCTCCCAGATCCCAGTCACCACTGCTGGCCTCAGGAAGCATGCAGGGTTCACACTGCCTCCAGAAAAGTTCCCCTGGACAGGATAAAGAGAGAGGGTAGCACATCATGGTGTTAAGAGCAGAGATTTTGGCCACAGATACTCTGGTCCAATTAGGTGAGGATAAAAAGTGACAGAACCAGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAACGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAATGAAACCCCGTCTCTACTAAAAATACGAAAAATTAGCTGGCCATGGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGTTGGAACCCGG
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AATGCTGTTATGAAAATGGGTGTACAGCTTTGAAAAATTTTTAAATTATTTCCATATGTTTGGCTTGCACAACATCAACATAACCAATATTTATTGAGTGCTTACTTTATATCAGATTCTGTGCTAAATGTTTCTCACATATAACTTTCACACATTTCTCGTAATGTCCCATTTTATAGTAAAACAAACTGAAGCACAGAGTGATTATTTGCCCATGGTCACACACAAAGCCGATAACGTATTAGAACTGGAATGGGGCTGAGGCCCATCTGTGCTCACAACACATCTTGATCTCTGAGAGCAGAATTTATTCTGCTCATATTTAGTTGTCTCTCTTCATACCCGCTAGTTCAGCAACCAGTGAATACTCAGTGCATACTCCCTGACTAACCAGAGAAGGAAAAATATGAGCAAGAGCCTCTCCTTCTAGCAAAATCATGAATCCTGCTCACACAGGCATGCCAAACTCTCTGACAGCCCCCTTAGCTGAGTGCTGGTACAGCAGCCAACACACGCAGAAGGAAAGCAGGAATCCAGCCTGGAACCTGCAGTCCACAACCATCCAGAAGGGCTTCAGGATCTTGCCCCTCTCCCTTCACTCACCCAGTGGTTAGTGAAGTTCCCAGTGAGAATGGCAGGAGCAAAGGAGCGGGCAGGATTCATGCCTGCACCAGTATAATACATCTGCAAAAGAGACAGTTGTAACTGAGACACCCCCCTACTGCACCCCAGCTTCTCTCCCCACAACCCACATTGCCCCTGAGAGCTGCCATCTTTTCTCCAGCCAGCAGCAAGTGGAGAGGGACAGCCTGCATGACTCTCCAGGGGTTCCTGCAATGGGGTGAGGGCAACTGATGCCCTGTCTGGGAACAGACTATGGATCCATAGGCAAAGCCCATGTCTAGCCATGATACGTTCATTTCTACCTTGGGGTCAAGAAGGACTAGATATAGCAGTCACAAGAGAGGGATAGGGCAGAGTTGATTCCTTTGTGCCAGTAGAGAGTGCAATGGACAATGTTCATGTTTGACAGTGAAGTAGGCAGGAAGAACCCTTAAAAGTTGGGAAAGGTTTAGGGGCCCCGGAATCCTTGAATGAGAAGTTGCTCTCCTTCCTGCTTACCCCAAAGAGGTGCCCCAGGGCAAGGGAGAAGCCAACGGCCAGGGCCACGGAGCCCAGTTGGCCATTCCGCCTCTCGTCGTATGTGGCAAAGATGCAGAGCACGAACTGGAGCGTCAGGAAGATCTCCACTGTGGTTGCCTGGCCCACGCTCACCGCAGGGTGCAACTGTGCAAAGGAAGAAGAAGAGAGACAGCTCAGGAGGGCTGCCACAGTGTTACCTCCTCAAGACTTCCCCGGCAAGGATCTCGTTACGGCATCAGGTCCGTGGAGAGGAAGGATAATACAACCCCCTTCATAATCATTGTATTTGCATCTTACCATCTCCTAACAGTGCTCCTTCATGATGGAAATGATTGCAGCCACTTACATGTATGAGGAAACTGAGGCCTTGAAAGGTAAAATAAGTTTCCTTAAGAACCTGCAAGGAGTTGGAAGGAAAGCTGAAACTCAAACTCAGGTTTCTTAATTCTCAGTCCAGGGCCCTATGCCTTCCTTAAAGCTCTAAACCACCTGTCAATCCTCACCACTTCAACACACACATGCTCACACATGCACATATTGTCCCAGACCCCAGGGGAGCTGATTCACCTGCACCAGTCAGGGAGTCAGGGCAATAGAGAGACAGGACACCAGGTTCCCCATCCCCTCTCAGCCAACCATTACCGTGTTGAGTGCTAGGTTTCCTCGGACAGCAGGTGGGGTAACGCTATACAGCACAGCGGCCCCAGCCACAGCTCCCAGGAGCTGGGCTGCCATATAGCAGAAGGCACGGAGCAGGGACATCTGGGAGCCCACAAGGAAAGCAAAAGTGACTGCAGGATTGACGTGGGCTCCACTGATGTGGCCCACAGACTGCACCAGTGTAGCCAGGGCCAAGCCAAATGCCATAGCCACCTGCAGAACATGCAGGGGTCCAGGAGCCCAGCACAGTGAGGACCCCAGCCCAAAGAAGACATAGAAGAGGGTGGCAAAGAACTCAGCGAATATGGCCCTCCAAAAGGAGGCTGATCGCAGTTCCCACATGGCAGGGGGGATGGTCACAGTGCCTGGGTCCCTGCTACCCCCATGGCCTTGTCTGGGTGGACAGTCCCCTTTATAGAGGACTCTTAATCCCTGGGAGGGGCAGGCTGAGGTAGCAGGCCCAGCCTCTTAACCCCTTCACAGCTGTGGAGGGCTAAGTCCCCTCCCCTACATGGTAAAAATGCTGGATTTTCCCGCCTTTCTCAACTGGGAGATGAGCCGAGAGAGCCATGGCAGTGAGGGTGGGATTGGGGTCACAGCAAGAGAGACTACGAGAAGTGGGGGTGAAGAACAGCAGGACTGGAAGAGTCTGCCCTTCTGTGTGTGTCAAAATTGGGGTTCATTGTCCTGATTGACATCAACATTAGAATACTCTTCAGCTCTCTTTGGAAGGTCCATCAAGCTGAGCTCACTTCATGGCATTTGGGGCTGAGCTCCTGGGGGCCTCAGCCTCCTCTGAGTCTGCCAGGGGTAAGGGTTGGGGGGAGTGGTAAGGAGTGGGGTTCAGCAGGGAAGTTGGATAACTAAAGAGAATTCTTTAGTTCCCAGGGATTAGAAGCCTTTCTCCCATTGGCTAGTTTGGGCTGGAATCTGTGGACCCTGCAGCTCTGGGACAAAATAGTTCTGCTGCGTCTGGCTTTCTCTGAGCCCGGGTTCCCTACCCCCAGTCCATGACAGCACCTCCCTTTTCAAACCCTAGGCCTGGCTTTTTAAACTACAGGGACCGACAGAGAGAAGACACTATCATCCCTGCATGGGCTGGGAGTGGGGTTGGAGGGATAGGAATAAGAAAGGGACTCGTAGTTAAACCTTAGAATCAGCTTGTATTTCATCTTTCCTAACTCACATGGTCATAGCAAGAAGTACTGAAAGGAAGGAAACAGTCATGGCTATGAAGCAATGGGAAGGTCTAATGTCCTTTAATACAGCCATGATCAGCACACCCTAAGCCTTGATCCCCAGGGAAAGGTATGGGTGTGCTGGGATCAGATCTGGGGAAACAGCCGATCAAAGAGAGGGAAAAGGATAATATGGGGAAGGAAAGTTTGGGGAAAGAGGTTCAGTTGTGCTCGGGCTTGGTGAGGGACTTGGGACCTAGGCGTGGGGTTGTGTGGTGATGGAGAAGGTAGAATGGGACATACTGATAGGTTCTACCATCTCCACATAGTGGCAAGTCATACCGGCCACAAACTTTTCTCATGAAGCACCAGAGAGCAGAAATTCGAGGTGAGGCCTGCAAGAATGGTGCCCAGCATGGGTCCTACCCAGTACACCTGTGGGGAGAGAGAAGGAACACAGATCAGGGGCTGTGCTTTCTCCTCATAATACCCAGCTTGGGGATGGACAGAAAGAGAGTTATAGTGAAGGTAGAGGGTCCATCTAACCTATCCACTGGCAGGAAGAGTTGCTGAGAACAGGTCAGAGAGCACCCAAAGGGTTTGGAGCTCTCAATTACATAGAAGAGAAACAGTCCACTAGAAGTCATTGGAATCTCCTATATTCTAGAAGCCTCATCAGTCTCCTGACTTAAGGCCCTGTAACCCTCAGTGCATCTCACCCAGTAATGCTCCCAGATCCCAGTCACCACTGCTGGCCTCAGGAAGCATGCAGGGTTCACACTGCCTCCAGAAAAGTTCCCCTGGACAGGATAAAGAGAGAGGGTAGCACATCATGGTGTTAAGAGCAGAGATTTTGGCCACAGATACTCTGGTCCAATTAGGTGAGGATAAAAAGTGACAGAACCAGCTGGGTGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAACGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATAATGAAACCCCGTCTCTACTAAAAATACGAAAAATTAGCTGGCCATGGTGGTGGGTACCTGTAATCCCAGCTACTCGGGAGGTTGAGGCAGGAGAATCGTTGGAACCCGG
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Task1_train_17991
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With a mutation on Chromosome 12 in gene ATP5F1B (ATP synthase F1 subunit beta), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Hypermetabolism due to Defect in Mitochondrial Coupling
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GGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACGCCCAGCGAACCAAAGTAATTTTACTTAAGCCATCCCCCTTTCTGACCTATCTTTATCATCTCACTCCATATTCTTAGCACTCAAAAGACCCTTCTTACCACCCCTAATACCTGCTGAATAAGCTGACAGATTATCTGGTCTCTCAGCCATGATGGAAGAATTTTTAGTATCATTCTTTTTGTTCTTCATCTTTTATTTTAACTATTTTAATGCCCACTTTTAGAATTAAAAACAAGAGGCTGGGGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACGAGGTCAGGAGTTCGACACCAGTAGAGACGGGGGTCTCTACTAAAAAAAAAAAAAAAAACGGAAACAAAAATTAGCCAGGCATGGTGATGCATGCCTGTAATCCCAGCTATGCAGGAGGCTGAAGCAGGTGAATCGCTTGAACCCAGGAGGTGGAGGTTATAGTGAGCCAAGACTGTGCTACCACACTGTAGCCTAGGCAACAGACTCCGTCTCAAAAAAATAAAAATTAAAAAAAATAAAAAAATAAAAAAGAGGCTGGGCACAGTGGCTCAAGCCTATAATCCCAACACTTTGGGAGGCTGAGTCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGCCTGGTGTCGGGCACCTATAATCCCAGCTACTCAGGAGGCTGAGACAAAGGAATCACCTGAACCCAGGAGGAGGTTGCAGTGAGCCCAGATCGCACCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAGAATTAAAAACAAGAACAAAAAACTTCTTGCACAATAGTTCATTACACTGAATCATGAAAAGTTCCTACAGTTTAGCCACATTTTTACTATATGTAAAATTTATGTAATTTTACTATATATCCCATCTATATATATTTGAAAATGTATAGTACATTAATGCAGTAAATTTTTTTTTTTTGTAGACGGATTATCACTCTGCCGCCCAGGCTGGAGTGAGTGGCCCAATCTCAGCTCACCACAACCTCCTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGACAGGTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAAGTCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCCAAAGTGCTGGAATTACAAGTGTGAGCCACTGCACTCAGCCCTAATACAGTAAATATTTAATGCTCAGTTTCCATATAGCGCCGGACTCCCCTCAGACTAGAAACCATTGCTTTGTGATCTACATTTAAATGTATACCTTCATTTATTTTTTTTTAATTTTTTGAGGCAGAGTCTGACTCTGTCACCCAGGCTGGAGTGCAGTGCCCCAATCTTGGCTCATTGCAACCTCTGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCTGAGTAGTTGGGATTACAGGCGCCTGCCACAACGCCCAGCTAATTTTTTGTATCTTTAGTAGAGACGGGATTTCACCACGTTGGCCAGGGTGGTGTCTTAACTCCTGACCTCATGATCCGCGTACCTCAGCCTCCCAAAGTGTTGGTATTACAGGCATGAACCACCACGCCTGGCCCAGTCAGTTTTATACATCTCTCTACATACATACAGCTTTGTTCCCCAGGCTGATCTCTTGGGCTCAAGCAATCTTCCTGCCTCAGCCTCCTCAGTAGCTGAGATGCACCACTGCACCCTGCCTTTATACAAATCAGATCTTCATCTATGTAATTTTTCTTACCTGTACAGAGGTGATAGATCCCTTCTTGGTAGTGGTAATTCTTTCCTGCATAGTACCCATGTCAGTGGCCAGGGTAGGCTGATAGCCCACAGCAGAAGGGATTCGGCCCAATAATGCAGACACCTAAAAGAAAAAAAGGTCTTAGGTGTCTACATCCTTAGCCTCATCCGAAGAAAGGCCAGATGAACCAGGTCCTCTCAAGCCTTCCCTCTTACCTCTGAACCAGCCTGGGTGAAGCGAAAGATGTTATCAATAAATAGCAGTACATCTTGACCTTCTTGGTCTCTGAAGTATTCAGCCACAGTCAGCCCAGTCAGAGCTACCCGGGCACGAGCACCAGGTGGTTCATTCATTTGACCATATACCAGCGCTACCTGCAGTAATCATACATAATCGTAAAACCTGACAAAGGAGTAGAGAAGCCACATACTGAAGGTTCCCAAATCGGAGAAACGACCACAGATCCTTTCTCAGAAGGTGTCAGCGTTTTTGTGTGCAAGTTTCTTTTCCCTATTAGAGATGCAGTTCAAAAAAAAAAGACAGCTTCTTATATTAGTAAGGCAAAACTATAGTAGAAAGGAAATAAAAACCTATTCAAGTTAAGTGAAAAGTACAAAATAGGCTTAACTGAAACATATGTACCACGTCCAATCCAGCCCTCCCAAAATTAGCTTTCAAATGATGGGACTATCTACCAAAAAGAAAACCTGGAAATGTTATTTAATGTCAGTATCAAAGAGGAAAGAAAATGTCCATTTGTGTATTGGAAGTTGGGGGGGAAAACACTAACAGGTTTCCTTTGTAGGCCCTGGGACACGAAAATGAAAATATTAACATTTTCTTAAAAAGAAAAAAAAATTAAATAGAAAATATAGAACATGGCTTCAGTTGGCAATAGTTTCCTGGCGTAACTACCACGTGGACATCAATTAGCTCAATGCTTACCTTAGAGGTGGCATCTTTTAAGTTGATAACACCAGATTCAATCATTTCATGGTATAAATCATTGCCTTCACGGGTCCTCTCACCAACACCAGCAAACACAGAGTAACCACCATGGGCTTTGGCGACATTGTTGATTAACTCCATGATCAGTACAGTCTTGCCAACTCCAGCACCACCAAAAAGCCCTATAAGAGGTTGAAAAGAAAGAATATTTAAGAGTTCTGCTTTCCTAAATAAGCAAACTTCAAAAAAAGTAATTGCTTCCTTCCATCCTATTCCTTCTCAGAAATTGCATCTGGCTTCAGCAAACTCAGAAGAACGAAAGTCAGAACGTACTCATCAGTGAGGAATAGATGTCAATATCCACTCATAACATTGTATGAGTTTTTCCTCCCATATTAGGTTTGGAAAATATGTACCCCTTAATAACATACCAATTTTGCCACCCTTGGCATAGGGAGCTAGCAGATCGACAACCTTGATACCAGTCACCAGAATTTCCTGCTCAACACTCATTTCCATGAACTCTGGAGCCTCAGCATGAATGGGAGCAAATCTGTAAAGGTAGAAGAGAGGATAGTATCTATTCACCTTGTTGAAAGCAAATGATAATCTTATATATCCCTCCCTATCAACTCTCAAGTCCATCCCTTTACCTGAGGAACCACAGTCTTACCTCCCCTTTCTTACATAAATCAGATAAACTATCATCTAGGATCTAACCCAACTTTCTGCAATAAAGAAAATTATTATCTTAGGAAACAATAATCCCATTCCCTGACTTTAACTGTCATAAATTTTTCATTTTACTGAGCCTTAACCTAACAGCATTCCCTCACATAGCAATAGCAAATACAAAAACCTACAAGTTTTGGAGACTCCTAAACCTAAGCCATAAGACCGAGTCTTAAAAATACTCAACTAGCCAGGCGCAGTGGCTCATGCCTGTTATCCCAGCACTTTGGGGGGCCGAGGTGGGGGGGGAATCACCCAAAATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGCCGGGCATGATGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCGAGAGCGAAACTCCCT
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GGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCACGCCCAGCGAACCAAAGTAATTTTACTTAAGCCATCCCCCTTTCTGACCTATCTTTATCATCTCACTCCATATTCTTAGCACTCAAAAGACCCTTCTTACCACCCCTAATACCTGCTGAATAAGCTGACAGATTATCTGGTCTCTCAGCCATGATGGAAGAATTTTTAGTATCATTCTTTTTGTTCTTCATCTTTTATTTTAACTATTTTAATGCCCACTTTTAGAATTAAAAACAAGAGGCTGGGGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACGAGGTCAGGAGTTCGACACCAGTAGAGACGGGGGTCTCTACTAAAAAAAAAAAAAAAAACGGAAACAAAAATTAGCCAGGCATGGTGATGCATGCCTGTAATCCCAGCTATGCAGGAGGCTGAAGCAGGTGAATCGCTTGAACCCAGGAGGTGGAGGTTATAGTGAGCCAAGACTGTGCTACCACACTGTAGCCTAGGCAACAGACTCCGTCTCAAAAAAATAAAAATTAAAAAAAATAAAAAAATAAAAAAGAGGCTGGGCACAGTGGCTCAAGCCTATAATCCCAACACTTTGGGAGGCTGAGTCAGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGCCTGGTGTCGGGCACCTATAATCCCAGCTACTCAGGAGGCTGAGACAAAGGAATCACCTGAACCCAGGAGGAGGTTGCAGTGAGCCCAGATCGCACCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAAGAATTAAAAACAAGAACAAAAAACTTCTTGCACAATAGTTCATTACACTGAATCATGAAAAGTTCCTACAGTTTAGCCACATTTTTACTATATGTAAAATTTATGTAATTTTACTATATATCCCATCTATATATATTTGAAAATGTATAGTACATTAATGCAGTAAATTTTTTTTTTTTGTAGACGGATTATCACTCTGCCGCCCAGGCTGGAGTGAGTGGCCCAATCTCAGCTCACCACAACCTCCTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGACAGGTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAAGTCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCCAAAGTGCTGGAATTACAAGTGTGAGCCACTGCACTCAGCCCTAATACAGTAAATATTTAATGCTCAGTTTCCATATAGCGCCGGACTCCCCTCAGACTAGAAACCATTGCTTTGTGATCTACATTTAAATGTATACCTTCATTTATTTTTTTTTAATTTTTTGAGGCAGAGTCTGACTCTGTCACCCAGGCTGGAGTGCAGTGCCCCAATCTTGGCTCATTGCAACCTCTGCCTCCCGGATTCAAGCGATTCTCCTGCCTCAGCCTCTGAGTAGTTGGGATTACAGGCGCCTGCCACAACGCCCAGCTAATTTTTTGTATCTTTAGTAGAGACGGGATTTCACCACGTTGGCCAGGGTGGTGTCTTAACTCCTGACCTCATGATCCGCGTACCTCAGCCTCCCAAAGTGTTGGTATTACAGGCATGAACCACCACGCCTGGCCCAGTCAGTTTTATACATCTCTCTACATACATACAGCTTTGTTCCCCAGGCTGATCTCTTGGGCTCAAGCAATCTTCCTGCCTCAGCCTCCTCAGTAGCTGAGATGCACCACTGCACCCTGCCTTTATACAAATCAGATCTTCATCTATGTAATTTTTCTTACCTGTACAGAGGTGATAGATCCCTTCTTGGTAGTGGTAATTCTTTCCTGCATAGTACCCATGTCAGTGGCCGGGGTAGGCTGATAGCCCACAGCAGAAGGGATTCGGCCCAATAATGCAGACACCTAAAAGAAAAAAAGGTCTTAGGTGTCTACATCCTTAGCCTCATCCGAAGAAAGGCCAGATGAACCAGGTCCTCTCAAGCCTTCCCTCTTACCTCTGAACCAGCCTGGGTGAAGCGAAAGATGTTATCAATAAATAGCAGTACATCTTGACCTTCTTGGTCTCTGAAGTATTCAGCCACAGTCAGCCCAGTCAGAGCTACCCGGGCACGAGCACCAGGTGGTTCATTCATTTGACCATATACCAGCGCTACCTGCAGTAATCATACATAATCGTAAAACCTGACAAAGGAGTAGAGAAGCCACATACTGAAGGTTCCCAAATCGGAGAAACGACCACAGATCCTTTCTCAGAAGGTGTCAGCGTTTTTGTGTGCAAGTTTCTTTTCCCTATTAGAGATGCAGTTCAAAAAAAAAAGACAGCTTCTTATATTAGTAAGGCAAAACTATAGTAGAAAGGAAATAAAAACCTATTCAAGTTAAGTGAAAAGTACAAAATAGGCTTAACTGAAACATATGTACCACGTCCAATCCAGCCCTCCCAAAATTAGCTTTCAAATGATGGGACTATCTACCAAAAAGAAAACCTGGAAATGTTATTTAATGTCAGTATCAAAGAGGAAAGAAAATGTCCATTTGTGTATTGGAAGTTGGGGGGGAAAACACTAACAGGTTTCCTTTGTAGGCCCTGGGACACGAAAATGAAAATATTAACATTTTCTTAAAAAGAAAAAAAAATTAAATAGAAAATATAGAACATGGCTTCAGTTGGCAATAGTTTCCTGGCGTAACTACCACGTGGACATCAATTAGCTCAATGCTTACCTTAGAGGTGGCATCTTTTAAGTTGATAACACCAGATTCAATCATTTCATGGTATAAATCATTGCCTTCACGGGTCCTCTCACCAACACCAGCAAACACAGAGTAACCACCATGGGCTTTGGCGACATTGTTGATTAACTCCATGATCAGTACAGTCTTGCCAACTCCAGCACCACCAAAAAGCCCTATAAGAGGTTGAAAAGAAAGAATATTTAAGAGTTCTGCTTTCCTAAATAAGCAAACTTCAAAAAAAGTAATTGCTTCCTTCCATCCTATTCCTTCTCAGAAATTGCATCTGGCTTCAGCAAACTCAGAAGAACGAAAGTCAGAACGTACTCATCAGTGAGGAATAGATGTCAATATCCACTCATAACATTGTATGAGTTTTTCCTCCCATATTAGGTTTGGAAAATATGTACCCCTTAATAACATACCAATTTTGCCACCCTTGGCATAGGGAGCTAGCAGATCGACAACCTTGATACCAGTCACCAGAATTTCCTGCTCAACACTCATTTCCATGAACTCTGGAGCCTCAGCATGAATGGGAGCAAATCTGTAAAGGTAGAAGAGAGGATAGTATCTATTCACCTTGTTGAAAGCAAATGATAATCTTATATATCCCTCCCTATCAACTCTCAAGTCCATCCCTTTACCTGAGGAACCACAGTCTTACCTCCCCTTTCTTACATAAATCAGATAAACTATCATCTAGGATCTAACCCAACTTTCTGCAATAAAGAAAATTATTATCTTAGGAAACAATAATCCCATTCCCTGACTTTAACTGTCATAAATTTTTCATTTTACTGAGCCTTAACCTAACAGCATTCCCTCACATAGCAATAGCAAATACAAAAACCTACAAGTTTTGGAGACTCCTAAACCTAAGCCATAAGACCGAGTCTTAAAAATACTCAACTAGCCAGGCGCAGTGGCTCATGCCTGTTATCCCAGCACTTTGGGGGGCCGAGGTGGGGGGGGAATCACCCAAAATCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAATTAGCCGGGCATGATGGCATGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGTCGAGAGCGAAACTCCCT
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Task1_train_17992
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This genomic variant is located on Chromosome 12, within the PRIM1 (DNA primase subunit 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
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AAGGGTTAAACTTATCTGTTAAGAAGAGTATTTAGAAATATAAATTACTTTCACATTAGCTGTGCCCTTACTCTTTTTTAGAGTTAATGCCTCACTTTGTCACCCATGCTAGAGTACATACAGTAGCATGGTCATAGCTCACTGCAGGCTTGATGTCCTGGGCTCAAGTGATCCTCCCACCTCAGTTGTCTCCCAAAGTGCTAGGATTATAGACGTGAGCTACTGCTCCTGGCCTGGCCAGTTTTTCAATTTTTGTTGAGTTGGGGTCTCACTATGTTGCCCAGAACTCCTGGCCTCAAACAATCCTCTTGCCTCAGCCTCCTGAGTTGCTGGGATTACAGGTGTGAATGACCATGTCCAGCATGCCTTTTATTTCTCTTTAAAAAACCAGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGAGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGTACCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAGCCTGGGTGACAGAGTGGGACTCTGTCTCGAAAAAAAAGGAAAGAAAAAAAACAAAAACAAAAACCAATAAGCAAATGTGAAGACTGTTGAGCTATTTCCCAGTTGCTCTTATCCCTACTTTTATTTCTATATTTAGAAATAAAGTATATTTAAATATTCCATATTTAAGTTCAGAACAATCTCAGAGTTAGTGAGTCCTGAAAATAGAACAAAATAGATGAAACTATAATATTTACATTGGCTTGGTTTATTTGAGATCAATACAGATACCCACATGTCAGACACCTTTAAAAAGCATTTAGGAAATAAAATAGAAATTCCTCTACTCTTTTATAATACCCCCCTAGGATACCATATAGAATTTAACACATCTCAAAAGTGACGTAATGAGGCTGGGCGCAGTGGCTCTTGTCTGTAATCCCAGCACTTTGGGAGACTGGGGCAGGTGAATTGCTTGAGCTCAAGAGTTCAAGACCAACCTGGGCAACATGGCAAAACCCTGTCTACAAAATATTAGCTGGCTGTGGTAGCACATGCCTGTAGTACCAGCTACTCAGGAGGGTGAGGCAGAAGGATCGCTTGAGCCGATCGGTGAGCCGAGATTGCACCAGTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTTTCTCGAAAAAAATTTTTTTTTGTTTTTGTCAGTGCTAGGAGTAGAGTTCATTTCATTTCTTTCTTTTTTTCTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGAACTACAGGCATGCACCACCACGTCTAGCTAATTTTTGTATTTTTTGTACAAAGGGTGTTTAGACATGTGGCCTAGGCTGGTGTTAGACTCTGGGGCTCAAGTGATTTGCCCACCTTGCCCTCCTCAAGTGCTGGGATTACAGGAGCAAGCTACCACATACAGTCACACACAATTTTTTTTTTATGACCTTGGATGGGTTACATCTTGGGCCACTGTTTTCTCATCTGTACAATGAGAGCTGTTGTCCTAAGATTTTGATGGTCCTCTCCAAATCTAATATGGAACCTCAGAAACCCAACTGAAAAACAGTTACATAGTAGAAACTCATCTGGTAGCTACTTAACTGACTTAGGTATTGGGTGACAGAGCAATTCTTCTACCTTTAAATCATAGACATTATATATATTCAGACCTAATGCCATGCTTACTAAAGCCAATAGCAACTCATTTTTCTTTTAGTTTTCCTTAGTTTCCTTGTGTAGTACCTGTTTTAGGATGAACACTAAAAGGGCTCTTCAGTAGATGATTGATTCCTTTGCTGACATTGATATCCAGCCGTGGAAAACAGTACTGGAGCATAATCTCCCACTCCAGCCAGGGTCCATATTTGTCATTTTTGATGTTATTCTAAAAGCAGATACAAGGCCAACATGAGGATCAGTAGGAACTGTTGAAGATTTCTTTAAAGAAAGTTAAAAAAACGATCTTCAACCATCTTTAACTGACTAGGCAAAGCAATCAATTTAATTAAGAATTGCATTATTATATCTGTAATACAGATTTCAGTGGCATATACCTGATATCTGCTGGCTACTTTCTTCAAGTGCTCCCAACGCTGAAGTGAATTGTGAGACTTTTGGAAGCTTTGTTGAAGTTCATCATGAATTGGTGATGGGTCATTAAGGAACAGACTCATTTAGGGAACATCAATGAACAATTTAGTTTTAAGTATGTATTACCACAAGGGTGTCTTACAAATATTCAGAAAGTAGTTATTAACATTTCTTGAAATATAAATGTTGACTGGGCGTGGTGGCTCATGCCTGTACTCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCACGTGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAGAAAAATCAGCAGGGCATGGTGGTGCACATCTGTAATCCTAGCTACTCTGGAGGCTGAGGCAGGAAAATTGCTTAAATCTGCAAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGTGCTACAGCCTGGGCAACAGAGTGAGACTCCATCTCAACAACAAAACAACCCACCCCACAAATGTTAAACTCAACAGCTGTATCCGGCCGGGCACAGTGGCTCATGCCTGTATTCCCAATATTTTGGGAGGCTGAGGTGGGTGGATCATTTGAGACCAGCTTGGCTGACATGGTGAGACCCCGTCTCTATAAAAACACAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGCAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTAAGCCAAGATCACACCACTGCACACTCCAGCCTGGGCAACACAGTATAAGACTCCGTCTTAAAAACAACAACAACAACAAAAAAACCCCAAACCAAACCAACACCAGTTGTATCATTGAAATCTTCCCCTGTAAAAATACAGTGATGATATAACAGAAAGAATGCCAAAATAACTATAAGGTATGATGTAAAGTTTTCCCTGGTCTGCATGTATTTTGACTATGTAATTCACCATTCTTTAGCTGTTAATTCTAGGACCAACTTCCAAAATGAGAAAACTGATTTGCAACATGGCCCCATTTTTTATTATGTTCCAGACCAGAGATACTAAAATCCAGAAATACAGGAGATATTTTGTGTAAAAAAGATTAAACTTATAAGTATATGAGAACTTACAAGCAGACATGTCTAACATTTATAATATCACAGATCAAAACAACTAGCTCACACAGAAATGATCACGGGAAAGGATATTTTCAGGAACAAGGGCTAAAATCTTATCCCAGCTTTCTTTATTTTCGAGAATATCTTGATTAACCAAGGCATATTCTTCAAAGTATTTTTTTATTATGTTTATAGATTTTCTGTAAGAACAACAATAACAACAGAGTCCCAACACTATCAGTAACACATATGCCACATAGGTATTGCTGCCATTGTGGGGAAAACTACTGCTTATTTTCATGACATTTTCAGAACTTAACTAGGTAAAATGGGAATACTACCCTGTGCAGGGTTATGATAATTAAATGAGACACTTTTAAGGGAAAAGAACCTGACATAGAACCTGGCACAGAATGGGTATACAAGAAATGTTTACTTTTTAAACCTCACAACTTAGAAGGTTAATATACGCAATAAGGGTAGAAAGTAACCAACCCAGGACACCATAATACATCAGTAGTAGAATGTGGGATGCAGCCTACACTTTCCACTGTGAATTGCTTGTATTAATATCTCAACAATCATATAATGTTTGCAGTTTACAAATATGCATCACATTTACTCTTTCACTTAATCATTGATACAACTGTGAGACAGGTAGAGTGCA
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AAGGGTTAAACTTATCTGTTAAGAAGAGTATTTAGAAATATAAATTACTTTCACATTAGCTGTGCCCTTACTCTTTTTTAGAGTTAATGCCTCACTTTGTCACCCATGCTAGAGTACATACAGTAGCATGGTCATAGCTCACTGCAGGCTTGATGTCCTGGGCTCAAGTGATCCTCCCACCTCAGTTGTCTCCCAAAGTGCTAGGATTATAGACGTGAGCTACTGCTCCTGGCCTGGCCAGTTTTTCAATTTTTGTTGAGTTGGGGTCTCACTATGTTGCCCAGAACTCCTGGCCTCAAACAATCCTCTTGCCTCAGCCTCCTGAGTTGCTGGGATTACAGGTGTGAATGACCATGTCCAGCATGCCTTTTATTTCTCTTTAAAAAACCAGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGAGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGTACCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAGCCTGGGTGACAGAGTGGGACTCTGTCTCGAAAAAAAAGGAAAGAAAAAAAACAAAAACAAAAACCAATAAGCAAATGTGAAGACTGTTGAGCTATTTCCCAGTTGCTCTTATCCCTACTTTTATTTCTATATTTAGAAATAAAGTATATTTAAATATTCCATATTTAAGTTCAGAACAATCTCAGAGTTAGTGAGTCCTGAAAATAGAACAAAATAGATGAAACTATAATATTTACATTGGCTTGGTTTATTTGAGATCAATACAGATACCCACATGTCAGACACCTTTAAAAAGCATTTAGGAAATAAAATAGAAATTCCTCTACTCTTTTATAATACCCCCCTAGGATACCATATAGAATTTAACACATCTCAAAAGTGACGTAATGAGGCTGGGCGCAGTGGCTCTTGTCTGTAATCCCAGCACTTTGGGAGACTGGGGCAGGTGAATTGCTTGAGCTCAAGAGTTCAAGACCAACCTGGGCAACATGGCAAAACCCTGTCTACAAAATATTAGCTGGCTGTGGTAGCACATGCCTGTAGTACCAGCTACTCAGGAGGGTGAGGCAGAAGGATCGCTTGAGCCGATCGGTGAGCCGAGATTGCACCAGTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTTTCTCGAAAAAAATTTTTTTTTGTTTTTGTCAGTGCTAGGAGTAGAGTTCATTTCATTTCTTTCTTTTTTTCTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGAACTACAGGCATGCACCACCACGTCTAGCTAATTTTTGTATTTTTTGTACAAAGGGTGTTTAGACATGTGGCCTAGGCTGGTGTTAGACTCTGGGGCTCAAGTGATTTGCCCACCTTGCCCTCCTCAAGTGCTGGGATTACAGGAGCAAGCTACCACATACAGTCACACACAATTTTTTTTTTATGACCTTGGATGGGTTACATCTTGGGCCACTGTTTTCTCATCTGTACAATGAGAGCTGTTGTCCTAAGATTTTGATGGTCCTCTCCAAATCTAATATGGAACCTCAGAAACCCAACTGAAAAACAGTTACATAGTAGAAACTCATCTGGTAGCTACTTAACTGACTTAGGTATTGGGTGACAGAGCAATTCTTCTACCTTTAAATCATAGACATTATATATATTCAGACCTAATGCCATGCTTACTAAAGCCAATAGCAACTCATTTTTCTTTTAGTTTTCCTTAGTTTCCTTGTGTAGTACCTGTTTTAGGATGAACACTAAAAGGGCTCTTCAGTAGATGATTGATTCCTTTGCTGACATTGATATCCAGCCGTGGAAAACGGTACTGGAGCATAATCTCCCACTCCAGCCAGGGTCCATATTTGTCATTTTTGATGTTATTCTAAAAGCAGATACAAGGCCAACATGAGGATCAGTAGGAACTGTTGAAGATTTCTTTAAAGAAAGTTAAAAAAACGATCTTCAACCATCTTTAACTGACTAGGCAAAGCAATCAATTTAATTAAGAATTGCATTATTATATCTGTAATACAGATTTCAGTGGCATATACCTGATATCTGCTGGCTACTTTCTTCAAGTGCTCCCAACGCTGAAGTGAATTGTGAGACTTTTGGAAGCTTTGTTGAAGTTCATCATGAATTGGTGATGGGTCATTAAGGAACAGACTCATTTAGGGAACATCAATGAACAATTTAGTTTTAAGTATGTATTACCACAAGGGTGTCTTACAAATATTCAGAAAGTAGTTATTAACATTTCTTGAAATATAAATGTTGACTGGGCGTGGTGGCTCATGCCTGTACTCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCACGTGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAGAAAAATCAGCAGGGCATGGTGGTGCACATCTGTAATCCTAGCTACTCTGGAGGCTGAGGCAGGAAAATTGCTTAAATCTGCAAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGTGCTACAGCCTGGGCAACAGAGTGAGACTCCATCTCAACAACAAAACAACCCACCCCACAAATGTTAAACTCAACAGCTGTATCCGGCCGGGCACAGTGGCTCATGCCTGTATTCCCAATATTTTGGGAGGCTGAGGTGGGTGGATCATTTGAGACCAGCTTGGCTGACATGGTGAGACCCCGTCTCTATAAAAACACAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGCAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTAAGCCAAGATCACACCACTGCACACTCCAGCCTGGGCAACACAGTATAAGACTCCGTCTTAAAAACAACAACAACAACAAAAAAACCCCAAACCAAACCAACACCAGTTGTATCATTGAAATCTTCCCCTGTAAAAATACAGTGATGATATAACAGAAAGAATGCCAAAATAACTATAAGGTATGATGTAAAGTTTTCCCTGGTCTGCATGTATTTTGACTATGTAATTCACCATTCTTTAGCTGTTAATTCTAGGACCAACTTCCAAAATGAGAAAACTGATTTGCAACATGGCCCCATTTTTTATTATGTTCCAGACCAGAGATACTAAAATCCAGAAATACAGGAGATATTTTGTGTAAAAAAGATTAAACTTATAAGTATATGAGAACTTACAAGCAGACATGTCTAACATTTATAATATCACAGATCAAAACAACTAGCTCACACAGAAATGATCACGGGAAAGGATATTTTCAGGAACAAGGGCTAAAATCTTATCCCAGCTTTCTTTATTTTCGAGAATATCTTGATTAACCAAGGCATATTCTTCAAAGTATTTTTTTATTATGTTTATAGATTTTCTGTAAGAACAACAATAACAACAGAGTCCCAACACTATCAGTAACACATATGCCACATAGGTATTGCTGCCATTGTGGGGAAAACTACTGCTTATTTTCATGACATTTTCAGAACTTAACTAGGTAAAATGGGAATACTACCCTGTGCAGGGTTATGATAATTAAATGAGACACTTTTAAGGGAAAAGAACCTGACATAGAACCTGGCACAGAATGGGTATACAAGAAATGTTTACTTTTTAAACCTCACAACTTAGAAGGTTAATATACGCAATAAGGGTAGAAAGTAACCAACCCAGGACACCATAATACATCAGTAGTAGAATGTGGGATGCAGCCTACACTTTCCACTGTGAATTGCTTGTATTAATATCTCAACAATCATATAATGTTTGCAGTTTACAAATATGCATCACATTTACTCTTTCACTTAATCATTGATACAACTGTGAGACAGGTAGAGTGCA
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Task1_train_17993
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Here’s a variant in PRIM1 (DNA primase subunit 1) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Microcephalic primordial dwarfism
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AAGGGTTAAACTTATCTGTTAAGAAGAGTATTTAGAAATATAAATTACTTTCACATTAGCTGTGCCCTTACTCTTTTTTAGAGTTAATGCCTCACTTTGTCACCCATGCTAGAGTACATACAGTAGCATGGTCATAGCTCACTGCAGGCTTGATGTCCTGGGCTCAAGTGATCCTCCCACCTCAGTTGTCTCCCAAAGTGCTAGGATTATAGACGTGAGCTACTGCTCCTGGCCTGGCCAGTTTTTCAATTTTTGTTGAGTTGGGGTCTCACTATGTTGCCCAGAACTCCTGGCCTCAAACAATCCTCTTGCCTCAGCCTCCTGAGTTGCTGGGATTACAGGTGTGAATGACCATGTCCAGCATGCCTTTTATTTCTCTTTAAAAAACCAGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGAGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGTACCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAGCCTGGGTGACAGAGTGGGACTCTGTCTCGAAAAAAAAGGAAAGAAAAAAAACAAAAACAAAAACCAATAAGCAAATGTGAAGACTGTTGAGCTATTTCCCAGTTGCTCTTATCCCTACTTTTATTTCTATATTTAGAAATAAAGTATATTTAAATATTCCATATTTAAGTTCAGAACAATCTCAGAGTTAGTGAGTCCTGAAAATAGAACAAAATAGATGAAACTATAATATTTACATTGGCTTGGTTTATTTGAGATCAATACAGATACCCACATGTCAGACACCTTTAAAAAGCATTTAGGAAATAAAATAGAAATTCCTCTACTCTTTTATAATACCCCCCTAGGATACCATATAGAATTTAACACATCTCAAAAGTGACGTAATGAGGCTGGGCGCAGTGGCTCTTGTCTGTAATCCCAGCACTTTGGGAGACTGGGGCAGGTGAATTGCTTGAGCTCAAGAGTTCAAGACCAACCTGGGCAACATGGCAAAACCCTGTCTACAAAATATTAGCTGGCTGTGGTAGCACATGCCTGTAGTACCAGCTACTCAGGAGGGTGAGGCAGAAGGATCGCTTGAGCCGATCGGTGAGCCGAGATTGCACCAGTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTTTCTCGAAAAAAATTTTTTTTTGTTTTTGTCAGTGCTAGGAGTAGAGTTCATTTCATTTCTTTCTTTTTTTCTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGAACTACAGGCATGCACCACCACGTCTAGCTAATTTTTGTATTTTTTGTACAAAGGGTGTTTAGACATGTGGCCTAGGCTGGTGTTAGACTCTGGGGCTCAAGTGATTTGCCCACCTTGCCCTCCTCAAGTGCTGGGATTACAGGAGCAAGCTACCACATACAGTCACACACAATTTTTTTTTTATGACCTTGGATGGGTTACATCTTGGGCCACTGTTTTCTCATCTGTACAATGAGAGCTGTTGTCCTAAGATTTTGATGGTCCTCTCCAAATCTAATATGGAACCTCAGAAACCCAACTGAAAAACAGTTACATAGTAGAAACTCATCTGGTAGCTACTTAACTGACTTAGGTATTGGGTGACAGAGCAATTCTTCTACCTTTAAATCATAGACATTATATATATTCAGACCTAATGCCATGCTTACTAAAGCCAATAGCAACTCATTTTTCTTTTAGTTTTCCTTAGTTTCCTTGTGTAGTACCTGTTTTAGGATGAACACTAAAAGGGCTCTTCAGTAGATGATTGATTCCTTTGCTGACATTGATATCCAGCCGTGGAAAACAGTACTGGAGCATAATCTCCCACTCCAGCCAGGGTCCATATTTGTCATTTTTGATGTTATTCTAAAAGCAGATACAAGGCCAACATGAGGATCAGTAGGAACTGTTGAAGATTTCTTTAAAGAAAGTTAAAAAAACGATCTTCAACCATCTTTAACTGACTAGGCAAAGCAATCAATTTAATTAAGAATTGCATTATTATATCTGTAATACAGATTTCAGTGGCATATACCTGATATCTGCTGGCTACTTTCTTCAAGTGCTCCCAACGCTGAAGTGAATTGTGAGACTTTTGGAAGCTTTGTTGAAGTTCATCATGAATTGGTGATGGGTCATTAAGGAACAGACTCATTTAGGGAACATCAATGAACAATTTAGTTTTAAGTATGTATTACCACAAGGGTGTCTTACAAATATTCAGAAAGTAGTTATTAACATTTCTTGAAATATAAATGTTGACTGGGCGTGGTGGCTCATGCCTGTACTCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCACGTGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAGAAAAATCAGCAGGGCATGGTGGTGCACATCTGTAATCCTAGCTACTCTGGAGGCTGAGGCAGGAAAATTGCTTAAATCTGCAAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGTGCTACAGCCTGGGCAACAGAGTGAGACTCCATCTCAACAACAAAACAACCCACCCCACAAATGTTAAACTCAACAGCTGTATCCGGCCGGGCACAGTGGCTCATGCCTGTATTCCCAATATTTTGGGAGGCTGAGGTGGGTGGATCATTTGAGACCAGCTTGGCTGACATGGTGAGACCCCGTCTCTATAAAAACACAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGCAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTAAGCCAAGATCACACCACTGCACACTCCAGCCTGGGCAACACAGTATAAGACTCCGTCTTAAAAACAACAACAACAACAAAAAAACCCCAAACCAAACCAACACCAGTTGTATCATTGAAATCTTCCCCTGTAAAAATACAGTGATGATATAACAGAAAGAATGCCAAAATAACTATAAGGTATGATGTAAAGTTTTCCCTGGTCTGCATGTATTTTGACTATGTAATTCACCATTCTTTAGCTGTTAATTCTAGGACCAACTTCCAAAATGAGAAAACTGATTTGCAACATGGCCCCATTTTTTATTATGTTCCAGACCAGAGATACTAAAATCCAGAAATACAGGAGATATTTTGTGTAAAAAAGATTAAACTTATAAGTATATGAGAACTTACAAGCAGACATGTCTAACATTTATAATATCACAGATCAAAACAACTAGCTCACACAGAAATGATCACGGGAAAGGATATTTTCAGGAACAAGGGCTAAAATCTTATCCCAGCTTTCTTTATTTTCGAGAATATCTTGATTAACCAAGGCATATTCTTCAAAGTATTTTTTTATTATGTTTATAGATTTTCTGTAAGAACAACAATAACAACAGAGTCCCAACACTATCAGTAACACATATGCCACATAGGTATTGCTGCCATTGTGGGGAAAACTACTGCTTATTTTCATGACATTTTCAGAACTTAACTAGGTAAAATGGGAATACTACCCTGTGCAGGGTTATGATAATTAAATGAGACACTTTTAAGGGAAAAGAACCTGACATAGAACCTGGCACAGAATGGGTATACAAGAAATGTTTACTTTTTAAACCTCACAACTTAGAAGGTTAATATACGCAATAAGGGTAGAAAGTAACCAACCCAGGACACCATAATACATCAGTAGTAGAATGTGGGATGCAGCCTACACTTTCCACTGTGAATTGCTTGTATTAATATCTCAACAATCATATAATGTTTGCAGTTTACAAATATGCATCACATTTACTCTTTCACTTAATCATTGATACAACTGTGAGACAGGTAGAGTGCA
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AAGGGTTAAACTTATCTGTTAAGAAGAGTATTTAGAAATATAAATTACTTTCACATTAGCTGTGCCCTTACTCTTTTTTAGAGTTAATGCCTCACTTTGTCACCCATGCTAGAGTACATACAGTAGCATGGTCATAGCTCACTGCAGGCTTGATGTCCTGGGCTCAAGTGATCCTCCCACCTCAGTTGTCTCCCAAAGTGCTAGGATTATAGACGTGAGCTACTGCTCCTGGCCTGGCCAGTTTTTCAATTTTTGTTGAGTTGGGGTCTCACTATGTTGCCCAGAACTCCTGGCCTCAAACAATCCTCTTGCCTCAGCCTCCTGAGTTGCTGGGATTACAGGTGTGAATGACCATGTCCAGCATGCCTTTTATTTCTCTTTAAAAAACCAGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCTGAGGAGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGGGTACCTGTAATCCCAGCTACTTGGGAGGGTGAGGCAGAGAATTGCTTGAACCTGGAAGGCAGAGGCTGCAGTGAGCCAAGATCGCGCCACTGTACTCCAGCCTGGGTGACAGAGTGGGACTCTGTCTCGAAAAAAAAGGAAAGAAAAAAAACAAAAACAAAAACCAATAAGCAAATGTGAAGACTGTTGAGCTATTTCCCAGTTGCTCTTATCCCTACTTTTATTTCTATATTTAGAAATAAAGTATATTTAAATATTCCATATTTAAGTTCAGAACAATCTCAGAGTTAGTGAGTCCTGAAAATAGAACAAAATAGATGAAACTATAATATTTACATTGGCTTGGTTTATTTGAGATCAATACAGATACCCACATGTCAGACACCTTTAAAAAGCATTTAGGAAATAAAATAGAAATTCCTCTACTCTTTTATAATACCCCCCTAGGATACCATATAGAATTTAACACATCTCAAAAGTGACGTAATGAGGCTGGGCGCAGTGGCTCTTGTCTGTAATCCCAGCACTTTGGGAGACTGGGGCAGGTGAATTGCTTGAGCTCAAGAGTTCAAGACCAACCTGGGCAACATGGCAAAACCCTGTCTACAAAATATTAGCTGGCTGTGGTAGCACATGCCTGTAGTACCAGCTACTCAGGAGGGTGAGGCAGAAGGATCGCTTGAGCCGATCGGTGAGCCGAGATTGCACCAGTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTTTCTCGAAAAAAATTTTTTTTTGTTTTTGTCAGTGCTAGGAGTAGAGTTCATTTCATTTCTTTCTTTTTTTCTTTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCACAGCTCACTGCAGCCTCAACTTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCTTGAGTAGCTGGAACTACAGGCATGCACCACCACGTCTAGCTAATTTTTGTATTTTTTGTACAAAGGGTGTTTAGACATGTGGCCTAGGCTGGTGTTAGACTCTGGGGCTCAAGTGATTTGCCCACCTTGCCCTCCTCAAGTGCTGGGATTACAGGAGCAAGCTACCACATACAGTCACACACAATTTTTTTTTTATGACCTTGGATGGGTTACATCTTGGGCCACTGTTTTCTCATCTGTACAATGAGAGCTGTTGTCCTAAGATTTTGATGGTCCTCTCCAAATCTAATATGGAACCTCAGAAACCCAACTGAAAAACAGTTACATAGTAGAAACTCATCTGGTAGCTACTTAACTGACTTAGGTATTGGGTGACAGAGCAATTCTTCTACCTTTAAATCATAGACATTATATATATTCAGACCTAATGCCATGCTTACTAAAGCCAATAGCAACTCATTTTTCTTTTAGTTTTCCTTAGTTTCCTTGTGTAGTACCTGTTTTAGGATGAACACTAAAAGGGCTCTTCAGTAGATGATTGATTCCTTTGCTGACATTGATATCCAGCCGTGGAAAACGGTACTGGAGCATAATCTCCCACTCCAGCCAGGGTCCATATTTGTCATTTTTGATGTTATTCTAAAAGCAGATACAAGGCCAACATGAGGATCAGTAGGAACTGTTGAAGATTTCTTTAAAGAAAGTTAAAAAAACGATCTTCAACCATCTTTAACTGACTAGGCAAAGCAATCAATTTAATTAAGAATTGCATTATTATATCTGTAATACAGATTTCAGTGGCATATACCTGATATCTGCTGGCTACTTTCTTCAAGTGCTCCCAACGCTGAAGTGAATTGTGAGACTTTTGGAAGCTTTGTTGAAGTTCATCATGAATTGGTGATGGGTCATTAAGGAACAGACTCATTTAGGGAACATCAATGAACAATTTAGTTTTAAGTATGTATTACCACAAGGGTGTCTTACAAATATTCAGAAAGTAGTTATTAACATTTCTTGAAATATAAATGTTGACTGGGCGTGGTGGCTCATGCCTGTACTCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCACGTGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAGAAAAATCAGCAGGGCATGGTGGTGCACATCTGTAATCCTAGCTACTCTGGAGGCTGAGGCAGGAAAATTGCTTAAATCTGCAAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGTGCTACAGCCTGGGCAACAGAGTGAGACTCCATCTCAACAACAAAACAACCCACCCCACAAATGTTAAACTCAACAGCTGTATCCGGCCGGGCACAGTGGCTCATGCCTGTATTCCCAATATTTTGGGAGGCTGAGGTGGGTGGATCATTTGAGACCAGCTTGGCTGACATGGTGAGACCCCGTCTCTATAAAAACACAAAAATTAGCTGGGCGTGGTGGCGTGTGCCTGCAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCGGGAGGCGGAGGTTGCAGTAAGCCAAGATCACACCACTGCACACTCCAGCCTGGGCAACACAGTATAAGACTCCGTCTTAAAAACAACAACAACAACAAAAAAACCCCAAACCAAACCAACACCAGTTGTATCATTGAAATCTTCCCCTGTAAAAATACAGTGATGATATAACAGAAAGAATGCCAAAATAACTATAAGGTATGATGTAAAGTTTTCCCTGGTCTGCATGTATTTTGACTATGTAATTCACCATTCTTTAGCTGTTAATTCTAGGACCAACTTCCAAAATGAGAAAACTGATTTGCAACATGGCCCCATTTTTTATTATGTTCCAGACCAGAGATACTAAAATCCAGAAATACAGGAGATATTTTGTGTAAAAAAGATTAAACTTATAAGTATATGAGAACTTACAAGCAGACATGTCTAACATTTATAATATCACAGATCAAAACAACTAGCTCACACAGAAATGATCACGGGAAAGGATATTTTCAGGAACAAGGGCTAAAATCTTATCCCAGCTTTCTTTATTTTCGAGAATATCTTGATTAACCAAGGCATATTCTTCAAAGTATTTTTTTATTATGTTTATAGATTTTCTGTAAGAACAACAATAACAACAGAGTCCCAACACTATCAGTAACACATATGCCACATAGGTATTGCTGCCATTGTGGGGAAAACTACTGCTTATTTTCATGACATTTTCAGAACTTAACTAGGTAAAATGGGAATACTACCCTGTGCAGGGTTATGATAATTAAATGAGACACTTTTAAGGGAAAAGAACCTGACATAGAACCTGGCACAGAATGGGTATACAAGAAATGTTTACTTTTTAAACCTCACAACTTAGAAGGTTAATATACGCAATAAGGGTAGAAAGTAACCAACCCAGGACACCATAATACATCAGTAGTAGAATGTGGGATGCAGCCTACACTTTCCACTGTGAATTGCTTGTATTAATATCTCAACAATCATATAATGTTTGCAGTTTACAAATATGCATCACATTTACTCTTTCACTTAATCATTGATACAACTGTGAGACAGGTAGAGTGCA
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Task1_train_17994
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This alteration in SDR9C7 (short chain dehydrogenase/reductase family 9C member 7) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Lamellar ichthyosis
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GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTGCAAAAGAAGCAGAGCCAAGAAATGGGTGGAACCAGGTCCTAGCAACATCATTTGCAGTCTGGGTCAGGTTGTACCTGAAGCTTATCTTGCTCAACTTTTTAGTCAGGTGAGGCAAGAAATTCCTTTTCTGCTTAAATAATTTGCATTGGATCTTCTGTCACTGAGTAAGTCCCAACTAGTGTAAATCCTTAGACATTTTCTTCTCACAGAATCCTAACATGTCTAGCACTAAAAGATGAATTTATCTAAGGAGTACTCCAAACATTTTTCCCTGAGACTTCCCTAAATCAATGAATGAAGACACCTCCATTCACCATGTTCTTCAAGCTGTAAAGCTAACACTCACCCTTGATAGCTTCCTCTCCCTCACCCCTTAATCCTCAGTGTGCTTTGATGCTCTAATTTATTCCGTATACCCCAGCTACCTCCCATTGCTTCCCACCTGCTGGTTTCTTTAAAGTTCCTCAAATGGAGTTTTCTGCCTCAGAGCCTTCCTGCAGAAAAAAAGTCCCTACGCATCCCCTCTTTCCCCTTCCCAGCAACACCTAACTCTTATTCCTCCTCAAAGTCAACTCAGAAGCTCTCCCCTTCACCATAGTCTGAATTGGGACCGCAACTTCCTGCTCCATTCTTCTTTCACAACCCTGTTTCTCCTCTGTAGCACTTATCCACATCTACCATAAACACATGTGTTTTGATTTATGTTTGTCTCCCCTACTGGGCCATAAGCTACAGGCAGTGAAGGGCAGGCATACTGCTGTGTCCGCTCCAGCTCTCCAGCCCCACACAGGCTTGGGACATGGCAGCCTTGCATGCTTTGTATTACTGATTCAAAACAAAAACAAAAAACAAAAATGCAATAAAGTGTGTATGTATTAAGTGAAAAAAATGGCTGACTTGGCTTTGTGCTCTGTTGACGTACGACATCCAGCAGACAACTTTCGTGGCAGAAAGTTTTGGGGCAGCAGGGTAAACAGCTGCCGTGTCCCACCTCTACCCTCCAAAAACACCTATGATTCACAGGAGACCCTCAGCTCAGGGAAAGAAAGAGAGTTGCCTAGAGACCCTCCCTTTTAAATCCCCATGTGCTCATTTTCTTCTTTATTAACAAGCACTCAGAATGTGCAAAGTACTTCACACATACTAACCCTCATAACAACCCCATGAGGGAGGCACTATCTTTAGCTCCATTTTGTAAATAAGAAAACTGAGGCATGGGAAAACTAGGTAATAGGTCCAAAGTCTCCTAGCTGGTAAGTAGTAGAGCCAGGATTTGAACCCAGGCAGTCCGGCTCCAGCAGCCATGCCCTTGATCTCTTTGCTGTATTTATCTCAGTGCATTTTCACCTGATTCCCCTGCATCATGATGCTGTGGGGGCAGGTGCCAGGAGTGGGCTGAATTGCCCTTAACTCCCCGGGCTGCTCCAGAAGTGATGATTCTGCCACTTGCTCTCTATTCTCAAACCCCAGCTGTGCCACTATGTGACCTTGGGTCCTGAACTCCTCTGCATTTTGTCTCACCATCTGTAAACGGAAAGCCAGCTAATGACCCCAAGACCCACTCGCCCCCCTCAGAGACCCCTCTCCTGCCCCAGGAACTTACAGATGCGGAAATAATCCTCTCCGTAGCTGTCCCGGGTCTCCTGAGGCAGCCTCTCCCAAAGCTTTCGCATGCGTGACTCCAGGTTCTCCTTGCCGAGAATGGCTGTCCGATAGTTCCCTGGCTCAATGATGCAGACTTTCACCCCAAAGTAGTAGAGCTCACGCCTGGGAAAGAAGAGTTGCAGTCAGTCTGGGCCCCAAGATGACAATCATCACGGAGAGTCACCTCTGGATGGGCTGGTCTTTCAGGAACCTAGAGATGCTTCTCTCACCCCTGTACTTGGCCCTGGCATTGCCTTTGTGCAAATAAGCCCTTCCTTAGGGACTCAGCCCTTTCCAAAACTGGCCCAACAGTCTCTGGGCAATTTGCATTAGGCACAACCAGCGGGAAGAAGTCAATAGAGAATCTAGGCCAAAGCCTTGCCTCCCACCAGGTCCCTCCCATTAGCAACCCCTCACTCAACACCCACACGGTGAATGGTGTGGATATACACAAGGCCTGCACGCTCCTCTAAGGACCTCCCAGAGGGGACCTGTGCCTCCAGGCCTGTCTGTCTGTTTGGGGGACTCTCCCTCCTCTCACAGGCCCAAACAGGGTTTCACTCACCCTGGTGCCGCTCAAGGGAAGGCCCACCTGATGCCTTGTATTTCCACCCTACCTCTTCTCCTCATCCCTGCTCTTGGTCCTTGGAGAAAGCACCTTGAGGTCTAACCTTCCTTCTGCTATTGTGTTAGCTTCCTGTCTGCGGAATTCCCCTGCCCACATGCTGTCACTCCCAACCCTCTCTAATCTCTGGGATTTTCACCCAGAATTGTTCAGTACCAGGGCCCAGTTACCTTATGCTGTCAGAGAAGGCCTCAACGCCAAACTTGGAGACGCAGTAGCCACCACCAATGACAGCCACACGACCACCAGAGCTGGACATGTTGACAACCCTGCCCCGGGCTCTCTTGACCATGGGCAGCATGTGAAGGGTCACTTCGATCAGTCCCACCAGGTTCACATTAATCACCTTCACAAAGTCATCCTTGGTCAGCCATTCGTTGGGACCACTGGGCAGGCCCACACCAGCATTGTTCACCAGGGCCCAGAGGCCTGGGGGTGAGATGAACCACACAGAAATCATCAGTGGGCCTGGGAAAGAACCAAGTTCTGCTCCCCACCGGCTCAGTGCCCTCAAGGATGGTTGAGCAGGTGCACAAGACATAACTCGGTCAGGCTATAACATAAAAGGAAGGTGTGTCTTTTACTAACTCGTTTTCCCTGAAGGGACACTTTTTCCTGATTCACATAAAGTCTGCCGGCTAGCTGGCGCTCTGTACTAGCTACAATCGAGGTGTTAGGTGACAGCATTTCAGCTATCAGCTTTGGGATAAGAGTTTCATTTTCATACCAATGAATTAATGTTTAGATCCCTTCCCCATCATACTTCTCCCTCTCTATTCACTTAAGTATAACCAACTGCATTTCACATACTACCAAAATCAATCCATTCATTCATTCATCTTCACACATTTATTCATGCATTTATCTAGTCTGTGACAATTACAGGGTGAAGGAGGCCAGGTGCAGTGACTCACACTTGTAATCACAACCCTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGAGCAACAGAGTAAGACCCCTGTCTCTACAAAAAAAGAAAAAAAATTAGTCAGGCGTGGTGGTATGTGCCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCGGGTTACAGGTTACCTTGTTCGAGGTTACAGTGAGCTATAATGGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCTAAAAATAAAATGAAATAAAACGATATAAAATAAAATAAAGTAAAATACAGGGCAAAGGAGACATAAAATGAACAACACAGCATCTTATCCCTCAAGGAACTCACAAGCCTAGAAGGAAATAATAATATTTATAAATAAATATATAAAATATTTAAATAAAATAATTATGGAAAATGTGATGAGGACTATCCTTGAGATATTTCAATTAGGTTGGTACAAATGGAAAGAAATAATGCTAAGTGTTGTCATTCAACTCTGCAGGGGCCCAGGGTTGAAGAGCTTCAGGTCCAGTCCTGGTTTTACCTCCAGCCTTG
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GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTGCAAAAGAAGCAGAGCCAAGAAATGGGTGGAACCAGGTCCTAGCAACATCATTTGCAGTCTGGGTCAGGTTGTACCTGAAGCTTATCTTGCTCAACTTTTTAGTCAGGTGAGGCAAGAAATTCCTTTTCTGCTTAAATAATTTGCATTGGATCTTCTGTCACTGAGTAAGTCCCAACTAGTGTAAATCCTTAGACATTTTCTTCTCACAGAATCCTAACATGTCTAGCACTAAAAGATGAATTTATCTAAGGAGTACTCCAAACATTTTTCCCTGAGACTTCCCTAAATCAATGAATGAAGACACCTCCATTCACCATGTTCTTCAAGCTGTAAAGCTAACACTCACCCTTGATAGCTTCCTCTCCCTCACCCCTTAATCCTCAGTGTGCTTTGATGCTCTAATTTATTCCGTATACCCCAGCTACCTCCCATTGCTTCCCACCTGCTGGTTTCTTTAAAGTTCCTCAAATGGAGTTTTCTGCCTCAGAGCCTTCCTGCAGAAAAAAAGTCCCTACGCATCCCCTCTTTCCCCTTCCCAGCAACACCTAACTCTTATTCCTCCTCAAAGTCAACTCAGAAGCTCTCCCCTTCACCATAGTCTGAATTGGGACCGCAACTTCCTGCTCCATTCTTCTTTCACAACCCTGTTTCTCCTCTGTAGCACTTATCCACATCTACCATAAACACATGTGTTTTGATTTATGTTTGTCTCCCCTACTGGGCCATAAGCTACAGGCAGTGAAGGGCAGGCATACTGCTGTGTCCGCTCCAGCTCTCCAGCCCCACACAGGCTTGGGACATGGCAGCCTTGCATGCTTTGTATTACTGATTCAAAACAAAAACAAAAAACAAAAATGCAATAAAGTGTGTATGTATTAAGTGAAAAAAATGGCTGACTTGGCTTTGTGCTCTGTTGACGTACGACATCCAGCAGACAACTTTCGTGGCAGAAAGTTTTGGGGCAGCAGGGTAAACAGCTGCCGTGTCCCACCTCTACCCTCCAAAAACACCTATGATTCACAGGAGACCCTCAGCTCAGGGAAAGAAAGAGAGTTGCCTAGAGACCCTCCCTTTTAAATCCCCATGTGCTCATTTTCTTCTTTATTAACAAGCACTCAGAATGTGCAAAGTACTTCACACATACTAACCCTCATAACAACCCCATGAGGGAGGCACTATCTTTAGCTCCATTTTGTAAATAAGAAAACTGAGGCATGGGAAAACTAGGTAATAGGTCCAAAGTCTCCTAGCTGGTAAGTAGTAGAGCCAGGATTTGAACCCAGGCAGTCCGGCTCCAGCAGCCATGCCCTTGATCTCTTTGCTGTATTTATCTCAGTGCATTTTCACCTGATTCCCCTGCATCATGATGCTGTGGGGGCAGGTGCCAGGAGTGGGCTGAATTGCCCTTAACTCCCCGGGCTGCTCCAGAAGTGATGATTCTGCCACTTGCTCTCTATTCTCAAACCCCAGCTGTGCCACTATGTGACCTTGGGTCCTGAACTCCTCTGCATTTTGTCTCACCATCTGTAAACGGAAAGCCAGCTAATGACCCCAAGACCCACTCGCCCCCCTCAGAGACCCCTCTCCTGCCCCAGGAACTTACAGATGCGGAAATAATCCTCTCCGTAGCTGTCCCGGGTCTCCTGAGGCAGCCTCTCCCAAAGCTTTCGCATGCGTGACTCCAGGTTCTCCTTGCCGAGAATGGCTGTCCGATAGTTCCCTGGCTCAGTGATGCAGACTTTCACCCCAAAGTAGTAGAGCTCACGCCTGGGAAAGAAGAGTTGCAGTCAGTCTGGGCCCCAAGATGACAATCATCACGGAGAGTCACCTCTGGATGGGCTGGTCTTTCAGGAACCTAGAGATGCTTCTCTCACCCCTGTACTTGGCCCTGGCATTGCCTTTGTGCAAATAAGCCCTTCCTTAGGGACTCAGCCCTTTCCAAAACTGGCCCAACAGTCTCTGGGCAATTTGCATTAGGCACAACCAGCGGGAAGAAGTCAATAGAGAATCTAGGCCAAAGCCTTGCCTCCCACCAGGTCCCTCCCATTAGCAACCCCTCACTCAACACCCACACGGTGAATGGTGTGGATATACACAAGGCCTGCACGCTCCTCTAAGGACCTCCCAGAGGGGACCTGTGCCTCCAGGCCTGTCTGTCTGTTTGGGGGACTCTCCCTCCTCTCACAGGCCCAAACAGGGTTTCACTCACCCTGGTGCCGCTCAAGGGAAGGCCCACCTGATGCCTTGTATTTCCACCCTACCTCTTCTCCTCATCCCTGCTCTTGGTCCTTGGAGAAAGCACCTTGAGGTCTAACCTTCCTTCTGCTATTGTGTTAGCTTCCTGTCTGCGGAATTCCCCTGCCCACATGCTGTCACTCCCAACCCTCTCTAATCTCTGGGATTTTCACCCAGAATTGTTCAGTACCAGGGCCCAGTTACCTTATGCTGTCAGAGAAGGCCTCAACGCCAAACTTGGAGACGCAGTAGCCACCACCAATGACAGCCACACGACCACCAGAGCTGGACATGTTGACAACCCTGCCCCGGGCTCTCTTGACCATGGGCAGCATGTGAAGGGTCACTTCGATCAGTCCCACCAGGTTCACATTAATCACCTTCACAAAGTCATCCTTGGTCAGCCATTCGTTGGGACCACTGGGCAGGCCCACACCAGCATTGTTCACCAGGGCCCAGAGGCCTGGGGGTGAGATGAACCACACAGAAATCATCAGTGGGCCTGGGAAAGAACCAAGTTCTGCTCCCCACCGGCTCAGTGCCCTCAAGGATGGTTGAGCAGGTGCACAAGACATAACTCGGTCAGGCTATAACATAAAAGGAAGGTGTGTCTTTTACTAACTCGTTTTCCCTGAAGGGACACTTTTTCCTGATTCACATAAAGTCTGCCGGCTAGCTGGCGCTCTGTACTAGCTACAATCGAGGTGTTAGGTGACAGCATTTCAGCTATCAGCTTTGGGATAAGAGTTTCATTTTCATACCAATGAATTAATGTTTAGATCCCTTCCCCATCATACTTCTCCCTCTCTATTCACTTAAGTATAACCAACTGCATTTCACATACTACCAAAATCAATCCATTCATTCATTCATCTTCACACATTTATTCATGCATTTATCTAGTCTGTGACAATTACAGGGTGAAGGAGGCCAGGTGCAGTGACTCACACTTGTAATCACAACCCTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGAGCAACAGAGTAAGACCCCTGTCTCTACAAAAAAAGAAAAAAAATTAGTCAGGCGTGGTGGTATGTGCCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCGGGTTACAGGTTACCTTGTTCGAGGTTACAGTGAGCTATAATGGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCTAAAAATAAAATGAAATAAAACGATATAAAATAAAATAAAGTAAAATACAGGGCAAAGGAGACATAAAATGAACAACACAGCATCTTATCCCTCAAGGAACTCACAAGCCTAGAAGGAAATAATAATATTTATAAATAAATATATAAAATATTTAAATAAAATAATTATGGAAAATGTGATGAGGACTATCCTTGAGATATTTCAATTAGGTTGGTACAAATGGAAAGAAATAATGCTAAGTGTTGTCATTCAACTCTGCAGGGGCCCAGGGTTGAAGAGCTTCAGGTCCAGTCCTGGTTTTACCTCCAGCCTTG
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Task1_train_17995
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This variant affects the gene SDR9C7 (short chain dehydrogenase/reductase family 9C member 7) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Ichthyosis, congenital, autosomal recessive 13
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GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTGCAAAAGAAGCAGAGCCAAGAAATGGGTGGAACCAGGTCCTAGCAACATCATTTGCAGTCTGGGTCAGGTTGTACCTGAAGCTTATCTTGCTCAACTTTTTAGTCAGGTGAGGCAAGAAATTCCTTTTCTGCTTAAATAATTTGCATTGGATCTTCTGTCACTGAGTAAGTCCCAACTAGTGTAAATCCTTAGACATTTTCTTCTCACAGAATCCTAACATGTCTAGCACTAAAAGATGAATTTATCTAAGGAGTACTCCAAACATTTTTCCCTGAGACTTCCCTAAATCAATGAATGAAGACACCTCCATTCACCATGTTCTTCAAGCTGTAAAGCTAACACTCACCCTTGATAGCTTCCTCTCCCTCACCCCTTAATCCTCAGTGTGCTTTGATGCTCTAATTTATTCCGTATACCCCAGCTACCTCCCATTGCTTCCCACCTGCTGGTTTCTTTAAAGTTCCTCAAATGGAGTTTTCTGCCTCAGAGCCTTCCTGCAGAAAAAAAGTCCCTACGCATCCCCTCTTTCCCCTTCCCAGCAACACCTAACTCTTATTCCTCCTCAAAGTCAACTCAGAAGCTCTCCCCTTCACCATAGTCTGAATTGGGACCGCAACTTCCTGCTCCATTCTTCTTTCACAACCCTGTTTCTCCTCTGTAGCACTTATCCACATCTACCATAAACACATGTGTTTTGATTTATGTTTGTCTCCCCTACTGGGCCATAAGCTACAGGCAGTGAAGGGCAGGCATACTGCTGTGTCCGCTCCAGCTCTCCAGCCCCACACAGGCTTGGGACATGGCAGCCTTGCATGCTTTGTATTACTGATTCAAAACAAAAACAAAAAACAAAAATGCAATAAAGTGTGTATGTATTAAGTGAAAAAAATGGCTGACTTGGCTTTGTGCTCTGTTGACGTACGACATCCAGCAGACAACTTTCGTGGCAGAAAGTTTTGGGGCAGCAGGGTAAACAGCTGCCGTGTCCCACCTCTACCCTCCAAAAACACCTATGATTCACAGGAGACCCTCAGCTCAGGGAAAGAAAGAGAGTTGCCTAGAGACCCTCCCTTTTAAATCCCCATGTGCTCATTTTCTTCTTTATTAACAAGCACTCAGAATGTGCAAAGTACTTCACACATACTAACCCTCATAACAACCCCATGAGGGAGGCACTATCTTTAGCTCCATTTTGTAAATAAGAAAACTGAGGCATGGGAAAACTAGGTAATAGGTCCAAAGTCTCCTAGCTGGTAAGTAGTAGAGCCAGGATTTGAACCCAGGCAGTCCGGCTCCAGCAGCCATGCCCTTGATCTCTTTGCTGTATTTATCTCAGTGCATTTTCACCTGATTCCCCTGCATCATGATGCTGTGGGGGCAGGTGCCAGGAGTGGGCTGAATTGCCCTTAACTCCCCGGGCTGCTCCAGAAGTGATGATTCTGCCACTTGCTCTCTATTCTCAAACCCCAGCTGTGCCACTATGTGACCTTGGGTCCTGAACTCCTCTGCATTTTGTCTCACCATCTGTAAACGGAAAGCCAGCTAATGACCCCAAGACCCACTCGCCCCCCTCAGAGACCCCTCTCCTGCCCCAGGAACTTACAGATGCGGAAATAATCCTCTCCGTAGCTGTCCCGGGTCTCCTGAGGCAGCCTCTCCCAAAGCTTTCGCATGCGTGACTCCAGGTTCTCCTTGCCGAGAATGGCTGTCCGATAGTTCCCTGGCTCAATGATGCAGACTTTCACCCCAAAGTAGTAGAGCTCACGCCTGGGAAAGAAGAGTTGCAGTCAGTCTGGGCCCCAAGATGACAATCATCACGGAGAGTCACCTCTGGATGGGCTGGTCTTTCAGGAACCTAGAGATGCTTCTCTCACCCCTGTACTTGGCCCTGGCATTGCCTTTGTGCAAATAAGCCCTTCCTTAGGGACTCAGCCCTTTCCAAAACTGGCCCAACAGTCTCTGGGCAATTTGCATTAGGCACAACCAGCGGGAAGAAGTCAATAGAGAATCTAGGCCAAAGCCTTGCCTCCCACCAGGTCCCTCCCATTAGCAACCCCTCACTCAACACCCACACGGTGAATGGTGTGGATATACACAAGGCCTGCACGCTCCTCTAAGGACCTCCCAGAGGGGACCTGTGCCTCCAGGCCTGTCTGTCTGTTTGGGGGACTCTCCCTCCTCTCACAGGCCCAAACAGGGTTTCACTCACCCTGGTGCCGCTCAAGGGAAGGCCCACCTGATGCCTTGTATTTCCACCCTACCTCTTCTCCTCATCCCTGCTCTTGGTCCTTGGAGAAAGCACCTTGAGGTCTAACCTTCCTTCTGCTATTGTGTTAGCTTCCTGTCTGCGGAATTCCCCTGCCCACATGCTGTCACTCCCAACCCTCTCTAATCTCTGGGATTTTCACCCAGAATTGTTCAGTACCAGGGCCCAGTTACCTTATGCTGTCAGAGAAGGCCTCAACGCCAAACTTGGAGACGCAGTAGCCACCACCAATGACAGCCACACGACCACCAGAGCTGGACATGTTGACAACCCTGCCCCGGGCTCTCTTGACCATGGGCAGCATGTGAAGGGTCACTTCGATCAGTCCCACCAGGTTCACATTAATCACCTTCACAAAGTCATCCTTGGTCAGCCATTCGTTGGGACCACTGGGCAGGCCCACACCAGCATTGTTCACCAGGGCCCAGAGGCCTGGGGGTGAGATGAACCACACAGAAATCATCAGTGGGCCTGGGAAAGAACCAAGTTCTGCTCCCCACCGGCTCAGTGCCCTCAAGGATGGTTGAGCAGGTGCACAAGACATAACTCGGTCAGGCTATAACATAAAAGGAAGGTGTGTCTTTTACTAACTCGTTTTCCCTGAAGGGACACTTTTTCCTGATTCACATAAAGTCTGCCGGCTAGCTGGCGCTCTGTACTAGCTACAATCGAGGTGTTAGGTGACAGCATTTCAGCTATCAGCTTTGGGATAAGAGTTTCATTTTCATACCAATGAATTAATGTTTAGATCCCTTCCCCATCATACTTCTCCCTCTCTATTCACTTAAGTATAACCAACTGCATTTCACATACTACCAAAATCAATCCATTCATTCATTCATCTTCACACATTTATTCATGCATTTATCTAGTCTGTGACAATTACAGGGTGAAGGAGGCCAGGTGCAGTGACTCACACTTGTAATCACAACCCTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGAGCAACAGAGTAAGACCCCTGTCTCTACAAAAAAAGAAAAAAAATTAGTCAGGCGTGGTGGTATGTGCCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCGGGTTACAGGTTACCTTGTTCGAGGTTACAGTGAGCTATAATGGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCTAAAAATAAAATGAAATAAAACGATATAAAATAAAATAAAGTAAAATACAGGGCAAAGGAGACATAAAATGAACAACACAGCATCTTATCCCTCAAGGAACTCACAAGCCTAGAAGGAAATAATAATATTTATAAATAAATATATAAAATATTTAAATAAAATAATTATGGAAAATGTGATGAGGACTATCCTTGAGATATTTCAATTAGGTTGGTACAAATGGAAAGAAATAATGCTAAGTGTTGTCATTCAACTCTGCAGGGGCCCAGGGTTGAAGAGCTTCAGGTCCAGTCCTGGTTTTACCTCCAGCCTTG
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GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTGCAAAAGAAGCAGAGCCAAGAAATGGGTGGAACCAGGTCCTAGCAACATCATTTGCAGTCTGGGTCAGGTTGTACCTGAAGCTTATCTTGCTCAACTTTTTAGTCAGGTGAGGCAAGAAATTCCTTTTCTGCTTAAATAATTTGCATTGGATCTTCTGTCACTGAGTAAGTCCCAACTAGTGTAAATCCTTAGACATTTTCTTCTCACAGAATCCTAACATGTCTAGCACTAAAAGATGAATTTATCTAAGGAGTACTCCAAACATTTTTCCCTGAGACTTCCCTAAATCAATGAATGAAGACACCTCCATTCACCATGTTCTTCAAGCTGTAAAGCTAACACTCACCCTTGATAGCTTCCTCTCCCTCACCCCTTAATCCTCAGTGTGCTTTGATGCTCTAATTTATTCCGTATACCCCAGCTACCTCCCATTGCTTCCCACCTGCTGGTTTCTTTAAAGTTCCTCAAATGGAGTTTTCTGCCTCAGAGCCTTCCTGCAGAAAAAAAGTCCCTACGCATCCCCTCTTTCCCCTTCCCAGCAACACCTAACTCTTATTCCTCCTCAAAGTCAACTCAGAAGCTCTCCCCTTCACCATAGTCTGAATTGGGACCGCAACTTCCTGCTCCATTCTTCTTTCACAACCCTGTTTCTCCTCTGTAGCACTTATCCACATCTACCATAAACACATGTGTTTTGATTTATGTTTGTCTCCCCTACTGGGCCATAAGCTACAGGCAGTGAAGGGCAGGCATACTGCTGTGTCCGCTCCAGCTCTCCAGCCCCACACAGGCTTGGGACATGGCAGCCTTGCATGCTTTGTATTACTGATTCAAAACAAAAACAAAAAACAAAAATGCAATAAAGTGTGTATGTATTAAGTGAAAAAAATGGCTGACTTGGCTTTGTGCTCTGTTGACGTACGACATCCAGCAGACAACTTTCGTGGCAGAAAGTTTTGGGGCAGCAGGGTAAACAGCTGCCGTGTCCCACCTCTACCCTCCAAAAACACCTATGATTCACAGGAGACCCTCAGCTCAGGGAAAGAAAGAGAGTTGCCTAGAGACCCTCCCTTTTAAATCCCCATGTGCTCATTTTCTTCTTTATTAACAAGCACTCAGAATGTGCAAAGTACTTCACACATACTAACCCTCATAACAACCCCATGAGGGAGGCACTATCTTTAGCTCCATTTTGTAAATAAGAAAACTGAGGCATGGGAAAACTAGGTAATAGGTCCAAAGTCTCCTAGCTGGTAAGTAGTAGAGCCAGGATTTGAACCCAGGCAGTCCGGCTCCAGCAGCCATGCCCTTGATCTCTTTGCTGTATTTATCTCAGTGCATTTTCACCTGATTCCCCTGCATCATGATGCTGTGGGGGCAGGTGCCAGGAGTGGGCTGAATTGCCCTTAACTCCCCGGGCTGCTCCAGAAGTGATGATTCTGCCACTTGCTCTCTATTCTCAAACCCCAGCTGTGCCACTATGTGACCTTGGGTCCTGAACTCCTCTGCATTTTGTCTCACCATCTGTAAACGGAAAGCCAGCTAATGACCCCAAGACCCACTCGCCCCCCTCAGAGACCCCTCTCCTGCCCCAGGAACTTACAGATGCGGAAATAATCCTCTCCGTAGCTGTCCCGGGTCTCCTGAGGCAGCCTCTCCCAAAGCTTTCGCATGCGTGACTCCAGGTTCTCCTTGCCGAGAATGGCTGTCCGATAGTTCCCTGGCTCAGTGATGCAGACTTTCACCCCAAAGTAGTAGAGCTCACGCCTGGGAAAGAAGAGTTGCAGTCAGTCTGGGCCCCAAGATGACAATCATCACGGAGAGTCACCTCTGGATGGGCTGGTCTTTCAGGAACCTAGAGATGCTTCTCTCACCCCTGTACTTGGCCCTGGCATTGCCTTTGTGCAAATAAGCCCTTCCTTAGGGACTCAGCCCTTTCCAAAACTGGCCCAACAGTCTCTGGGCAATTTGCATTAGGCACAACCAGCGGGAAGAAGTCAATAGAGAATCTAGGCCAAAGCCTTGCCTCCCACCAGGTCCCTCCCATTAGCAACCCCTCACTCAACACCCACACGGTGAATGGTGTGGATATACACAAGGCCTGCACGCTCCTCTAAGGACCTCCCAGAGGGGACCTGTGCCTCCAGGCCTGTCTGTCTGTTTGGGGGACTCTCCCTCCTCTCACAGGCCCAAACAGGGTTTCACTCACCCTGGTGCCGCTCAAGGGAAGGCCCACCTGATGCCTTGTATTTCCACCCTACCTCTTCTCCTCATCCCTGCTCTTGGTCCTTGGAGAAAGCACCTTGAGGTCTAACCTTCCTTCTGCTATTGTGTTAGCTTCCTGTCTGCGGAATTCCCCTGCCCACATGCTGTCACTCCCAACCCTCTCTAATCTCTGGGATTTTCACCCAGAATTGTTCAGTACCAGGGCCCAGTTACCTTATGCTGTCAGAGAAGGCCTCAACGCCAAACTTGGAGACGCAGTAGCCACCACCAATGACAGCCACACGACCACCAGAGCTGGACATGTTGACAACCCTGCCCCGGGCTCTCTTGACCATGGGCAGCATGTGAAGGGTCACTTCGATCAGTCCCACCAGGTTCACATTAATCACCTTCACAAAGTCATCCTTGGTCAGCCATTCGTTGGGACCACTGGGCAGGCCCACACCAGCATTGTTCACCAGGGCCCAGAGGCCTGGGGGTGAGATGAACCACACAGAAATCATCAGTGGGCCTGGGAAAGAACCAAGTTCTGCTCCCCACCGGCTCAGTGCCCTCAAGGATGGTTGAGCAGGTGCACAAGACATAACTCGGTCAGGCTATAACATAAAAGGAAGGTGTGTCTTTTACTAACTCGTTTTCCCTGAAGGGACACTTTTTCCTGATTCACATAAAGTCTGCCGGCTAGCTGGCGCTCTGTACTAGCTACAATCGAGGTGTTAGGTGACAGCATTTCAGCTATCAGCTTTGGGATAAGAGTTTCATTTTCATACCAATGAATTAATGTTTAGATCCCTTCCCCATCATACTTCTCCCTCTCTATTCACTTAAGTATAACCAACTGCATTTCACATACTACCAAAATCAATCCATTCATTCATTCATCTTCACACATTTATTCATGCATTTATCTAGTCTGTGACAATTACAGGGTGAAGGAGGCCAGGTGCAGTGACTCACACTTGTAATCACAACCCTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGAGCAACAGAGTAAGACCCCTGTCTCTACAAAAAAAGAAAAAAAATTAGTCAGGCGTGGTGGTATGTGCCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCGGGTTACAGGTTACCTTGTTCGAGGTTACAGTGAGCTATAATGGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCTAAAAATAAAATGAAATAAAACGATATAAAATAAAATAAAGTAAAATACAGGGCAAAGGAGACATAAAATGAACAACACAGCATCTTATCCCTCAAGGAACTCACAAGCCTAGAAGGAAATAATAATATTTATAAATAAATATATAAAATATTTAAATAAAATAATTATGGAAAATGTGATGAGGACTATCCTTGAGATATTTCAATTAGGTTGGTACAAATGGAAAGAAATAATGCTAAGTGTTGTCATTCAACTCTGCAGGGGCCCAGGGTTGAAGAGCTTCAGGTCCAGTCCTGGTTTTACCTCCAGCCTTG
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Task1_train_17996
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A variant on Chromosome 12 in gene SDR9C7 (short chain dehydrogenase/reductase family 9C member 7) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; SDR9C7-related disorder
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GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTGCAAAAGAAGCAGAGCCAAGAAATGGGTGGAACCAGGTCCTAGCAACATCATTTGCAGTCTGGGTCAGGTTGTACCTGAAGCTTATCTTGCTCAACTTTTTAGTCAGGTGAGGCAAGAAATTCCTTTTCTGCTTAAATAATTTGCATTGGATCTTCTGTCACTGAGTAAGTCCCAACTAGTGTAAATCCTTAGACATTTTCTTCTCACAGAATCCTAACATGTCTAGCACTAAAAGATGAATTTATCTAAGGAGTACTCCAAACATTTTTCCCTGAGACTTCCCTAAATCAATGAATGAAGACACCTCCATTCACCATGTTCTTCAAGCTGTAAAGCTAACACTCACCCTTGATAGCTTCCTCTCCCTCACCCCTTAATCCTCAGTGTGCTTTGATGCTCTAATTTATTCCGTATACCCCAGCTACCTCCCATTGCTTCCCACCTGCTGGTTTCTTTAAAGTTCCTCAAATGGAGTTTTCTGCCTCAGAGCCTTCCTGCAGAAAAAAAGTCCCTACGCATCCCCTCTTTCCCCTTCCCAGCAACACCTAACTCTTATTCCTCCTCAAAGTCAACTCAGAAGCTCTCCCCTTCACCATAGTCTGAATTGGGACCGCAACTTCCTGCTCCATTCTTCTTTCACAACCCTGTTTCTCCTCTGTAGCACTTATCCACATCTACCATAAACACATGTGTTTTGATTTATGTTTGTCTCCCCTACTGGGCCATAAGCTACAGGCAGTGAAGGGCAGGCATACTGCTGTGTCCGCTCCAGCTCTCCAGCCCCACACAGGCTTGGGACATGGCAGCCTTGCATGCTTTGTATTACTGATTCAAAACAAAAACAAAAAACAAAAATGCAATAAAGTGTGTATGTATTAAGTGAAAAAAATGGCTGACTTGGCTTTGTGCTCTGTTGACGTACGACATCCAGCAGACAACTTTCGTGGCAGAAAGTTTTGGGGCAGCAGGGTAAACAGCTGCCGTGTCCCACCTCTACCCTCCAAAAACACCTATGATTCACAGGAGACCCTCAGCTCAGGGAAAGAAAGAGAGTTGCCTAGAGACCCTCCCTTTTAAATCCCCATGTGCTCATTTTCTTCTTTATTAACAAGCACTCAGAATGTGCAAAGTACTTCACACATACTAACCCTCATAACAACCCCATGAGGGAGGCACTATCTTTAGCTCCATTTTGTAAATAAGAAAACTGAGGCATGGGAAAACTAGGTAATAGGTCCAAAGTCTCCTAGCTGGTAAGTAGTAGAGCCAGGATTTGAACCCAGGCAGTCCGGCTCCAGCAGCCATGCCCTTGATCTCTTTGCTGTATTTATCTCAGTGCATTTTCACCTGATTCCCCTGCATCATGATGCTGTGGGGGCAGGTGCCAGGAGTGGGCTGAATTGCCCTTAACTCCCCGGGCTGCTCCAGAAGTGATGATTCTGCCACTTGCTCTCTATTCTCAAACCCCAGCTGTGCCACTATGTGACCTTGGGTCCTGAACTCCTCTGCATTTTGTCTCACCATCTGTAAACGGAAAGCCAGCTAATGACCCCAAGACCCACTCGCCCCCCTCAGAGACCCCTCTCCTGCCCCAGGAACTTACAGATGCGGAAATAATCCTCTCCGTAGCTGTCCCGGGTCTCCTGAGGCAGCCTCTCCCAAAGCTTTCGCATGCGTGACTCCAGGTTCTCCTTGCCGAGAATGGCTGTCCGATAGTTCCCTGGCTCAATGATGCAGACTTTCACCCCAAAGTAGTAGAGCTCACGCCTGGGAAAGAAGAGTTGCAGTCAGTCTGGGCCCCAAGATGACAATCATCACGGAGAGTCACCTCTGGATGGGCTGGTCTTTCAGGAACCTAGAGATGCTTCTCTCACCCCTGTACTTGGCCCTGGCATTGCCTTTGTGCAAATAAGCCCTTCCTTAGGGACTCAGCCCTTTCCAAAACTGGCCCAACAGTCTCTGGGCAATTTGCATTAGGCACAACCAGCGGGAAGAAGTCAATAGAGAATCTAGGCCAAAGCCTTGCCTCCCACCAGGTCCCTCCCATTAGCAACCCCTCACTCAACACCCACACGGTGAATGGTGTGGATATACACAAGGCCTGCACGCTCCTCTAAGGACCTCCCAGAGGGGACCTGTGCCTCCAGGCCTGTCTGTCTGTTTGGGGGACTCTCCCTCCTCTCACAGGCCCAAACAGGGTTTCACTCACCCTGGTGCCGCTCAAGGGAAGGCCCACCTGATGCCTTGTATTTCCACCCTACCTCTTCTCCTCATCCCTGCTCTTGGTCCTTGGAGAAAGCACCTTGAGGTCTAACCTTCCTTCTGCTATTGTGTTAGCTTCCTGTCTGCGGAATTCCCCTGCCCACATGCTGTCACTCCCAACCCTCTCTAATCTCTGGGATTTTCACCCAGAATTGTTCAGTACCAGGGCCCAGTTACCTTATGCTGTCAGAGAAGGCCTCAACGCCAAACTTGGAGACGCAGTAGCCACCACCAATGACAGCCACACGACCACCAGAGCTGGACATGTTGACAACCCTGCCCCGGGCTCTCTTGACCATGGGCAGCATGTGAAGGGTCACTTCGATCAGTCCCACCAGGTTCACATTAATCACCTTCACAAAGTCATCCTTGGTCAGCCATTCGTTGGGACCACTGGGCAGGCCCACACCAGCATTGTTCACCAGGGCCCAGAGGCCTGGGGGTGAGATGAACCACACAGAAATCATCAGTGGGCCTGGGAAAGAACCAAGTTCTGCTCCCCACCGGCTCAGTGCCCTCAAGGATGGTTGAGCAGGTGCACAAGACATAACTCGGTCAGGCTATAACATAAAAGGAAGGTGTGTCTTTTACTAACTCGTTTTCCCTGAAGGGACACTTTTTCCTGATTCACATAAAGTCTGCCGGCTAGCTGGCGCTCTGTACTAGCTACAATCGAGGTGTTAGGTGACAGCATTTCAGCTATCAGCTTTGGGATAAGAGTTTCATTTTCATACCAATGAATTAATGTTTAGATCCCTTCCCCATCATACTTCTCCCTCTCTATTCACTTAAGTATAACCAACTGCATTTCACATACTACCAAAATCAATCCATTCATTCATTCATCTTCACACATTTATTCATGCATTTATCTAGTCTGTGACAATTACAGGGTGAAGGAGGCCAGGTGCAGTGACTCACACTTGTAATCACAACCCTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGAGCAACAGAGTAAGACCCCTGTCTCTACAAAAAAAGAAAAAAAATTAGTCAGGCGTGGTGGTATGTGCCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCGGGTTACAGGTTACCTTGTTCGAGGTTACAGTGAGCTATAATGGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCTAAAAATAAAATGAAATAAAACGATATAAAATAAAATAAAGTAAAATACAGGGCAAAGGAGACATAAAATGAACAACACAGCATCTTATCCCTCAAGGAACTCACAAGCCTAGAAGGAAATAATAATATTTATAAATAAATATATAAAATATTTAAATAAAATAATTATGGAAAATGTGATGAGGACTATCCTTGAGATATTTCAATTAGGTTGGTACAAATGGAAAGAAATAATGCTAAGTGTTGTCATTCAACTCTGCAGGGGCCCAGGGTTGAAGAGCTTCAGGTCCAGTCCTGGTTTTACCTCCAGCCTTG
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GCAGATTTCCCTCTGGGGACCTATGCCTCCCCCACACTGTGTCCATTGGTCTGGGCAGAGCACACAGCCCAGCCTGAGCCAATCACACCTTCACATTCCCCTGGGCGCAGTGATTGGTTTAGGGTTGGGTGCATCTTGTGGTCCCCCATGACGCGGTCACCATAAGGTCCTCCAAGTCGGAGTGTACATTAGGACTTTTGGGAGAGGTACTGGAAATAACTCTCCTATTTTCCCAGCAGACCTCACCCTAGGTGGAGGTGAAGAGAGGCTGCAGCAATGTGGCTCCCACAGGGGAGAGAGCTTAGAGACTGGAGTCAGTGCAAAAGAAGCAGAGCCAAGAAATGGGTGGAACCAGGTCCTAGCAACATCATTTGCAGTCTGGGTCAGGTTGTACCTGAAGCTTATCTTGCTCAACTTTTTAGTCAGGTGAGGCAAGAAATTCCTTTTCTGCTTAAATAATTTGCATTGGATCTTCTGTCACTGAGTAAGTCCCAACTAGTGTAAATCCTTAGACATTTTCTTCTCACAGAATCCTAACATGTCTAGCACTAAAAGATGAATTTATCTAAGGAGTACTCCAAACATTTTTCCCTGAGACTTCCCTAAATCAATGAATGAAGACACCTCCATTCACCATGTTCTTCAAGCTGTAAAGCTAACACTCACCCTTGATAGCTTCCTCTCCCTCACCCCTTAATCCTCAGTGTGCTTTGATGCTCTAATTTATTCCGTATACCCCAGCTACCTCCCATTGCTTCCCACCTGCTGGTTTCTTTAAAGTTCCTCAAATGGAGTTTTCTGCCTCAGAGCCTTCCTGCAGAAAAAAAGTCCCTACGCATCCCCTCTTTCCCCTTCCCAGCAACACCTAACTCTTATTCCTCCTCAAAGTCAACTCAGAAGCTCTCCCCTTCACCATAGTCTGAATTGGGACCGCAACTTCCTGCTCCATTCTTCTTTCACAACCCTGTTTCTCCTCTGTAGCACTTATCCACATCTACCATAAACACATGTGTTTTGATTTATGTTTGTCTCCCCTACTGGGCCATAAGCTACAGGCAGTGAAGGGCAGGCATACTGCTGTGTCCGCTCCAGCTCTCCAGCCCCACACAGGCTTGGGACATGGCAGCCTTGCATGCTTTGTATTACTGATTCAAAACAAAAACAAAAAACAAAAATGCAATAAAGTGTGTATGTATTAAGTGAAAAAAATGGCTGACTTGGCTTTGTGCTCTGTTGACGTACGACATCCAGCAGACAACTTTCGTGGCAGAAAGTTTTGGGGCAGCAGGGTAAACAGCTGCCGTGTCCCACCTCTACCCTCCAAAAACACCTATGATTCACAGGAGACCCTCAGCTCAGGGAAAGAAAGAGAGTTGCCTAGAGACCCTCCCTTTTAAATCCCCATGTGCTCATTTTCTTCTTTATTAACAAGCACTCAGAATGTGCAAAGTACTTCACACATACTAACCCTCATAACAACCCCATGAGGGAGGCACTATCTTTAGCTCCATTTTGTAAATAAGAAAACTGAGGCATGGGAAAACTAGGTAATAGGTCCAAAGTCTCCTAGCTGGTAAGTAGTAGAGCCAGGATTTGAACCCAGGCAGTCCGGCTCCAGCAGCCATGCCCTTGATCTCTTTGCTGTATTTATCTCAGTGCATTTTCACCTGATTCCCCTGCATCATGATGCTGTGGGGGCAGGTGCCAGGAGTGGGCTGAATTGCCCTTAACTCCCCGGGCTGCTCCAGAAGTGATGATTCTGCCACTTGCTCTCTATTCTCAAACCCCAGCTGTGCCACTATGTGACCTTGGGTCCTGAACTCCTCTGCATTTTGTCTCACCATCTGTAAACGGAAAGCCAGCTAATGACCCCAAGACCCACTCGCCCCCCTCAGAGACCCCTCTCCTGCCCCAGGAACTTACAGATGCGGAAATAATCCTCTCCGTAGCTGTCCCGGGTCTCCTGAGGCAGCCTCTCCCAAAGCTTTCGCATGCGTGACTCCAGGTTCTCCTTGCCGAGAATGGCTGTCCGATAGTTCCCTGGCTCAGTGATGCAGACTTTCACCCCAAAGTAGTAGAGCTCACGCCTGGGAAAGAAGAGTTGCAGTCAGTCTGGGCCCCAAGATGACAATCATCACGGAGAGTCACCTCTGGATGGGCTGGTCTTTCAGGAACCTAGAGATGCTTCTCTCACCCCTGTACTTGGCCCTGGCATTGCCTTTGTGCAAATAAGCCCTTCCTTAGGGACTCAGCCCTTTCCAAAACTGGCCCAACAGTCTCTGGGCAATTTGCATTAGGCACAACCAGCGGGAAGAAGTCAATAGAGAATCTAGGCCAAAGCCTTGCCTCCCACCAGGTCCCTCCCATTAGCAACCCCTCACTCAACACCCACACGGTGAATGGTGTGGATATACACAAGGCCTGCACGCTCCTCTAAGGACCTCCCAGAGGGGACCTGTGCCTCCAGGCCTGTCTGTCTGTTTGGGGGACTCTCCCTCCTCTCACAGGCCCAAACAGGGTTTCACTCACCCTGGTGCCGCTCAAGGGAAGGCCCACCTGATGCCTTGTATTTCCACCCTACCTCTTCTCCTCATCCCTGCTCTTGGTCCTTGGAGAAAGCACCTTGAGGTCTAACCTTCCTTCTGCTATTGTGTTAGCTTCCTGTCTGCGGAATTCCCCTGCCCACATGCTGTCACTCCCAACCCTCTCTAATCTCTGGGATTTTCACCCAGAATTGTTCAGTACCAGGGCCCAGTTACCTTATGCTGTCAGAGAAGGCCTCAACGCCAAACTTGGAGACGCAGTAGCCACCACCAATGACAGCCACACGACCACCAGAGCTGGACATGTTGACAACCCTGCCCCGGGCTCTCTTGACCATGGGCAGCATGTGAAGGGTCACTTCGATCAGTCCCACCAGGTTCACATTAATCACCTTCACAAAGTCATCCTTGGTCAGCCATTCGTTGGGACCACTGGGCAGGCCCACACCAGCATTGTTCACCAGGGCCCAGAGGCCTGGGGGTGAGATGAACCACACAGAAATCATCAGTGGGCCTGGGAAAGAACCAAGTTCTGCTCCCCACCGGCTCAGTGCCCTCAAGGATGGTTGAGCAGGTGCACAAGACATAACTCGGTCAGGCTATAACATAAAAGGAAGGTGTGTCTTTTACTAACTCGTTTTCCCTGAAGGGACACTTTTTCCTGATTCACATAAAGTCTGCCGGCTAGCTGGCGCTCTGTACTAGCTACAATCGAGGTGTTAGGTGACAGCATTTCAGCTATCAGCTTTGGGATAAGAGTTTCATTTTCATACCAATGAATTAATGTTTAGATCCCTTCCCCATCATACTTCTCCCTCTCTATTCACTTAAGTATAACCAACTGCATTTCACATACTACCAAAATCAATCCATTCATTCATTCATCTTCACACATTTATTCATGCATTTATCTAGTCTGTGACAATTACAGGGTGAAGGAGGCCAGGTGCAGTGACTCACACTTGTAATCACAACCCTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGAGCAACAGAGTAAGACCCCTGTCTCTACAAAAAAAGAAAAAAAATTAGTCAGGCGTGGTGGTATGTGCCTGTAGTTCTAGCTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCGGGTTACAGGTTACCTTGTTCGAGGTTACAGTGAGCTATAATGGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCTAAAAATAAAATGAAATAAAACGATATAAAATAAAATAAAGTAAAATACAGGGCAAAGGAGACATAAAATGAACAACACAGCATCTTATCCCTCAAGGAACTCACAAGCCTAGAAGGAAATAATAATATTTATAAATAAATATATAAAATATTTAAATAAAATAATTATGGAAAATGTGATGAGGACTATCCTTGAGATATTTCAATTAGGTTGGTACAAATGGAAAGAAATAATGCTAAGTGTTGTCATTCAACTCTGCAGGGGCCCAGGGTTGAAGAGCTTCAGGTCCAGTCCTGGTTTTACCTCCAGCCTTG
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Task1_train_17997
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Gene SDR9C7 (short chain dehydrogenase/reductase family 9C member 7), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Ichthyosis, congenital, autosomal recessive 13
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CCCCCTACCCACCCCAGTTCCCAGTGTTTCTTAGACCAGGATATTGCCAAGTGGCTTAGGCAAAATAATGGTCCCCCAAAGATGTCCCCATCCTCATTATCTCTGGAACCTGTGAATCTGCTGGATTACATGGGAAAGGGGAATTAAGGTTGCAGGTGGAATGGAGGTTGCTAATTAATTGTCCTTAAAGTTAGGGAGGAAGCTAACACGGGAAATTATCCTGGATTAACCTGGTGAGCCCAATATAATCACAAGTCCTAAGTGGAAAGAGGCAGAAACCGGAGAATCAGAGAGCTTGAGAAAAGTGTGAAAAAGACTGGGCCCAACCTTGCGGGCCTTGAAGATGGAGGTAGCAGGCCAGGAGCCAGGGGATGCCAGCTGCCTCTGGAAGCTGGAAAAGTCGATGAGACGGATTCTCCTCTACAGCCTCTAGAAGGAACACAGCTCTGCTGACTTTGATTTTAGATCAGTGAGGCCTATTTTAGACATTACTCCTCCACAACTACAAGATAATATGTTTGTATTGTCTTCAGACCCCACAGTTGTGTTATTTGTTACAATAGCAACAGGAAACTCACATGCTAAGTGAGGTATTAAGGCAAGTGGCTCAAGGCTGAATGTAGGGAACTGGCTGAGACAGCCTGCTGAAGACAGAGGCTCACTCTTGCTGAATTATTAATTAATTAGCTCACTCAAATCTATTTATTCAGTACCTTACTAGGTGCCAGACATTATTCTAGGTACTAAGGATGTACAGTAAATAAAAGGGACAAAAATCCTTGTCCCCAGGAAGCTTTATTCTAGCAGAGGAAACAGACAATAAATAAGTAAAATCTATTGTACATTGACTAGTGATAAGTGCTAAGGAGAAGAATCAAGCAGGGAGTTACTGTCTAGATCCCCCTGGCTCCAGGGCTCTGTTGCCCTGACCTGCGCATGGGCTCCAGACTAGTTCCTTTAGGAGGGAGGACTTCCTCTAGTCTGCTGCTTCTGCAACTCAGCCATCCTGTTCCTCCTGTTCCTGGGCCCACACCCTGTGTGCTGGAAGTGCATGAGGCAGGTCCCCACACAGTCCTGGGCCAGCCCCAGTCCACAGCTTCCTTTCCCAATAGGAGCAGCCACTGTGACATACATACTTGCCCTGAAGTCAAATCAACACCCACCATGATGTCAAGAAGAGACCAGATCTCTTTCTCCCCTGCCTGACATAGTCAAGGAGACAAACTGCACCCACTCATGGGATCCAGCCTCCTGTCTCATTCCCCCTCCCCCATCCTGATCCCAACAAGAAATGTGTTTGTATTTCCCCAGGAGCTGATGGTTAGGACTGCTGAAACATCAGAGAGGCACATCCTTTTTTTTTCTTTTTTTTCTTTTTGAGAGGGATTCTTGCTCTGTCACGAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACCACACCCAGGTAATTTTTATACTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCGGGATGGTCTCGATCTCTTGACCTCATGATCCTCCCACTTCGGCCTTCCAAAGTGCTGGGCTCATAGGCGTGAGCCACCACGCCCAGCCAGGCACGTCCATTTTTAGAGGTTTGGACACACAGAACACATCTTCCCCCCTCGCTTCCTATTGAGACCTCTTTCCCGTTTCTCTGAGTTTCCAGGACAGAAAACTTCCTTGGGAAATCACCCCTTCATGTGAACAGGCCAAACCATGCAGTGGCTTCCAATCAGATTGAGGCAGGGGCCTTTCCCTACATCACCCCTCCCACCCAATCTGGACATCAGGGTCTCTGATACTGTCAGATGCTTCGGGAGAGAGGAAGAGGAAGAAGGAGAAACCAAGAAAGCCAAAGAATGTAATTCGCCCCACCTTGTTCGCCCACTTTGTCCCTCACCCACTGGGCCGCCGCCTTGATGCTTTCGCTCTTGGTGACATCCAGTAGGGTGGTCTGCAGCCGATAGGAGGTATCCCGCTGAAGTTTCTGGGATCCCTCCTCAGTGAAGCAAGCAGCCAGCACCTGCATGCCCCGATCAACCAGCTGTTTGGCCAGCAGGTTCCCGAAGCCAGAGTCACAGCCTGTGATGAAGACGTACTTCTCTGAGAGGTTGCCAACCAGATTGCAGTTCTTGAACCAGCGATACATAAATGAGAGGTCTGTGAGGGCCGCCATAGGGCAAGGGGAATGTGATGGCCAAGAGGGACTGGGCTCAGGAGACAGCAGGGAAGAAGCTGGTCCTCTGAGCCCTAGCAGGCAGTCTGCAGGAAACCACCTGGAAGAAGAACTCTCCTTCCTCCCACAGCTTGCAACAAATCTAGGTCCCTGGGTGAGCCACGCTGTAATTTTTATAGGTGGATGCATCACCACAGCAATTAGCCCAGATGCAAGAAATTCAAGTCCAACCTGAAGCCTTGTCACCTCTGACAGCCCTGGTAGCTGCCTCCCTCTCTCCCCCTGCCCTGATGGGTAAAGCTGCCAAGAATTGGAAATAATCCACTTGTAATGTTGGTGATGAGTGGTGGCTCACCCAGGCGGTGTAAGGCAGGCAAATGAAAGATGAGGACTCACCCCAGACAGCTCCCCTAGAAATCCTGTCCCCACCCTGCCCCCAACCCAGCCTGGGGATTTTGGTCTCCAGGGATCAAAATCATTTGTCGTGAGTGCAGGTATGTAAATAAGTTTATTTTCAGGGAAAATACTCAAGACAAATTTATTAATGTAAAACAAACAACATTGGTTCTGTACCTTCCAAACCCCAAGAGAAACAAGTCGCAGGTCATCAGCTCTCTGGAATTCTTAGGTAAGTCTCCATCATGAGAGAGGATGAAAAGCAATGGATTTCTCCTAGGGTGGATGTACCTCCATTGTCCTGAGGCTAGAGGCAGCAGGGCCCTCCTATAGGGGAGGCTGGCATGTGAAGCTTAGCCACCAGAAAGCAGAAAGACCTGGGGGACTCAGGCCTGACACCCTGTGGGGGTCATACTCAGGTCACCAGTAAGCAGCCCTGGGCAAGATGATGAGGAGGGATCATGAGTTCACTGGGCAGCTGAGGGAATTGTCTGGGCAGAGGCCTTGACTGTAAGAGGGGATGAGATATAGGAGGAGCAGAGAACTGGGGCCAGAGACATAGAAAATTCTCAGGGTCGGGACTTGGAGGAGAAACAGAGATTCTAGGCAATTTAGCAAATAATTTACAGAAAGCTAAGAGGTAAGGTGGTAAAGGAAAGGAAATAAGGAAACCAGAGGTGTGAGTAGTGAGGGGCCACACCCAGAATTGCATAAGATGCAGGGAATGATGCTGGAGCCTCTGTGGTTCTTTGGATCAACATCTAGGGTCACCATTCCTTGGGATGAGCCTGGTCCTAGCTCACACCTTCATGGCTTAGCGAGTCTGACACAGAAATGGGACCACAAAGTTCTCTAGTGTGAAGGGACAAAGGATGTATCTCTGTGATCCACCATTTGCCAAGTCTGACCAGCGTGGAATCACATAAAGCAGGTGTCACCCTGGGAAAGCCCCGCAGGGTTTGGCCGTTCCTTAACAAAGTAGGGGAGGGGGCCAGATTATGAACCCACCCCCAAAGAGCAGACCTAAAGCTTATAGGGGATGGAGGTGGGAAATGGTAGAAAGCAAACCACACCTACTTCATAACCAACCTGAGGCAGAGCACCTCCTATGCGGGATCTGGGAACAATCTCCCAGTCTCTGTCTGCCTCCTGGGTGAATGAACAGAGAAGTCTTGGCTGAAACAGGTCAGACCATGTCACTCAAGACTGAGCAGGTCCGGGGCATTGGGTATCCCAGTCCTTGAGGACACAGGTGAGGTCCAGGAGTTGGGTCTGACTTAGCATAAGGATAACTCAGAACTGCCCCAGCACAGGCCTGGGCCTGACTCAGCACCTCCTGGGCCTCTATGCTGGCAGTGTTCCCCTGGCCTCAAACTAAACACACAGTCCATGAGGGTGGGGGGTGTGAGGGAGGTAGGACCACATAGAAGGCTCTTCT
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CCCCCTACCCACCCCAGTTCCCAGTGTTTCTTAGACCAGGATATTGCCAAGTGGCTTAGGCAAAATAATGGTCCCCCAAAGATGTCCCCATCCTCATTATCTCTGGAACCTGTGAATCTGCTGGATTACATGGGAAAGGGGAATTAAGGTTGCAGGTGGAATGGAGGTTGCTAATTAATTGTCCTTAAAGTTAGGGAGGAAGCTAACACGGGAAATTATCCTGGATTAACCTGGTGAGCCCAATATAATCACAAGTCCTAAGTGGAAAGAGGCAGAAACCGGAGAATCAGAGAGCTTGAGAAAAGTGTGAAAAAGACTGGGCCCAACCTTGCGGGCCTTGAAGATGGAGGTAGCAGGCCAGGAGCCAGGGGATGCCAGCTGCCTCTGGAAGCTGGAAAAGTCGATGAGACGGATTCTCCTCTACAGCCTCTAGAAGGAACACAGCTCTGCTGACTTTGATTTTAGATCAGTGAGGCCTATTTTAGACATTACTCCTCCACAACTACAAGATAATATGTTTGTATTGTCTTCAGACCCCACAGTTGTGTTATTTGTTACAATAGCAACAGGAAACTCACATGCTAAGTGAGGTATTAAGGCAAGTGGCTCAAGGCTGAATGTAGGGAACTGGCTGAGACAGCCTGCTGAAGACAGAGGCTCACTCTTGCTGAATTATTAATTAATTAGCTCACTCAAATCTATTTATTCAGTACCTTACTAGGTGCCAGACATTATTCTAGGTACTAAGGATGTACAGTAAATAAAAGGGACAAAAATCCTTGTCCCCAGGAAGCTTTATTCTAGCAGAGGAAACAGACAATAAATAAGTAAAATCTATTGTACATTGACTAGTGATAAGTGCTAAGGAGAAGAATCAAGCAGGGAGTTACTGTCTAGATCCCCCTGGCTCCAGGGCTCTGTTGCCCTGACCTGCGCATGGGCTCCAGACTAGTTCCTTTAGGAGGGAGGACTTCCTCTAGTCTGCTGCTTCTGCAACTCAGCCATCCTGTTCCTCCTGTTCCTGGGCCCACACCCTGTGTGCTGGAAGTGCATGAGGCAGGTCCCCACACAGTCCTGGGCCAGCCCCAGTCCACAGCTTCCTTTCCCAATAGGAGCAGCCACTGTGACATACATACTTGCCCTGAAGTCAAATCAACACCCACCATGATGTCAAGAAGAGACCAGATCTCTTTCTCCCCTGCCTGACATAGTCAAGGAGACAAACTGCACCCACTCATGGGATCCAGCCTCCTGTCTCATTCCCCCTCCCCCATCCTGATCCCAACAAGAAATGTGTTTGTATTTCCCCAGGAGCTGATGGTTAGGACTGCTGAAACATCAGAGAGGCACATCCTTTTTTTTTCTTTTTTTTCTTTTTGAGAGGGATTCTTGCTCTGTCACGAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACCACACCCAGGTAATTTTTATACTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCGGGATGGTCTCGATCTCTTGACCTCATGATCCTCCCACTTCGGCCTTCCAAAGTGCTGGGCTCATAGGCGTGAGCCACCACGCCCAGCCAGGCACGTCCATTTTTAGAGGTTTGGACACACAGAACACATCTTCCCCCCTCGCTTCCTATTGAGACCTCTTTCCCGTTTCTCTGAGTTTCCAGGACAGAAAACTTCCTTGGGAAATCACCCCTTCATGTGAACAGGCCAAACCATGCAGTGGCTTCCAATCAGATTGAGGCAGGGGCCTTTCCCTACATCACCCCTCCCACCCAATCTGGACATCAGGGTCTCTGATACTGTCAGATGCTTCGGGAGAGAGGAAGAGGAAGAAGGAGAAACCAAGAAAGCCAAAGAATGTAATTCGCCCCACCTTGTTCGCCCACTTTGTCCCTCACCCACTGGGCCGCCGCCTTGATGCTTTCGCTCTTGGTGACATCCAGTAGGGTGGTCTGCAGCCAATAGGAGGTATCCCGCTGAAGTTTCTGGGATCCCTCCTCAGTGAAGCAAGCAGCCAGCACCTGCATGCCCCGATCAACCAGCTGTTTGGCCAGCAGGTTCCCGAAGCCAGAGTCACAGCCTGTGATGAAGACGTACTTCTCTGAGAGGTTGCCAACCAGATTGCAGTTCTTGAACCAGCGATACATAAATGAGAGGTCTGTGAGGGCCGCCATAGGGCAAGGGGAATGTGATGGCCAAGAGGGACTGGGCTCAGGAGACAGCAGGGAAGAAGCTGGTCCTCTGAGCCCTAGCAGGCAGTCTGCAGGAAACCACCTGGAAGAAGAACTCTCCTTCCTCCCACAGCTTGCAACAAATCTAGGTCCCTGGGTGAGCCACGCTGTAATTTTTATAGGTGGATGCATCACCACAGCAATTAGCCCAGATGCAAGAAATTCAAGTCCAACCTGAAGCCTTGTCACCTCTGACAGCCCTGGTAGCTGCCTCCCTCTCTCCCCCTGCCCTGATGGGTAAAGCTGCCAAGAATTGGAAATAATCCACTTGTAATGTTGGTGATGAGTGGTGGCTCACCCAGGCGGTGTAAGGCAGGCAAATGAAAGATGAGGACTCACCCCAGACAGCTCCCCTAGAAATCCTGTCCCCACCCTGCCCCCAACCCAGCCTGGGGATTTTGGTCTCCAGGGATCAAAATCATTTGTCGTGAGTGCAGGTATGTAAATAAGTTTATTTTCAGGGAAAATACTCAAGACAAATTTATTAATGTAAAACAAACAACATTGGTTCTGTACCTTCCAAACCCCAAGAGAAACAAGTCGCAGGTCATCAGCTCTCTGGAATTCTTAGGTAAGTCTCCATCATGAGAGAGGATGAAAAGCAATGGATTTCTCCTAGGGTGGATGTACCTCCATTGTCCTGAGGCTAGAGGCAGCAGGGCCCTCCTATAGGGGAGGCTGGCATGTGAAGCTTAGCCACCAGAAAGCAGAAAGACCTGGGGGACTCAGGCCTGACACCCTGTGGGGGTCATACTCAGGTCACCAGTAAGCAGCCCTGGGCAAGATGATGAGGAGGGATCATGAGTTCACTGGGCAGCTGAGGGAATTGTCTGGGCAGAGGCCTTGACTGTAAGAGGGGATGAGATATAGGAGGAGCAGAGAACTGGGGCCAGAGACATAGAAAATTCTCAGGGTCGGGACTTGGAGGAGAAACAGAGATTCTAGGCAATTTAGCAAATAATTTACAGAAAGCTAAGAGGTAAGGTGGTAAAGGAAAGGAAATAAGGAAACCAGAGGTGTGAGTAGTGAGGGGCCACACCCAGAATTGCATAAGATGCAGGGAATGATGCTGGAGCCTCTGTGGTTCTTTGGATCAACATCTAGGGTCACCATTCCTTGGGATGAGCCTGGTCCTAGCTCACACCTTCATGGCTTAGCGAGTCTGACACAGAAATGGGACCACAAAGTTCTCTAGTGTGAAGGGACAAAGGATGTATCTCTGTGATCCACCATTTGCCAAGTCTGACCAGCGTGGAATCACATAAAGCAGGTGTCACCCTGGGAAAGCCCCGCAGGGTTTGGCCGTTCCTTAACAAAGTAGGGGAGGGGGCCAGATTATGAACCCACCCCCAAAGAGCAGACCTAAAGCTTATAGGGGATGGAGGTGGGAAATGGTAGAAAGCAAACCACACCTACTTCATAACCAACCTGAGGCAGAGCACCTCCTATGCGGGATCTGGGAACAATCTCCCAGTCTCTGTCTGCCTCCTGGGTGAATGAACAGAGAAGTCTTGGCTGAAACAGGTCAGACCATGTCACTCAAGACTGAGCAGGTCCGGGGCATTGGGTATCCCAGTCCTTGAGGACACAGGTGAGGTCCAGGAGTTGGGTCTGACTTAGCATAAGGATAACTCAGAACTGCCCCAGCACAGGCCTGGGCCTGACTCAGCACCTCCTGGGCCTCTATGCTGGCAGTGTTCCCCTGGCCTCAAACTAAACACACAGTCCATGAGGGTGGGGGGTGTGAGGGAGGTAGGACCACATAGAAGGCTCTTCT
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Task1_train_17998
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A variant affecting Chromosome 12, within the gene TAC3 (tachykinin precursor 3), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Hypogonadotropic hypogonadism 10 without anosmia
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AGCTCCCAGAAACCTTATGTCCTATTCTGCCTGACACCTAACAGGTTGGGAATGCTCCCTCAATGGTAAGATTATGAAAGCTGCAATTATGGGTCCCTCTGAAAGAGCCTGGATGCACAAACAAGCATTAAAAGTAGATTTCCACAATGCACTTGTTTTTGCCATTTGTATAAAATACTATAGCAAAATTGCACTGTAATTATCTTTATGGCCAGTGCATAACGCTGGAGCAGAGTATGTCATCCAGATATAGCTGCTCGTATAATTATCTGGCCGTCGGCAGGACTGAAATAACCATCTAATGAGAGCAAAATGATACAGTAACTACCATGTAATCAGCAAGTTACAGTTATTATAGCTCTTTGTGCCCTCTCACCCAACACTAAATGGGGGGCCAGACTCAGTCTCTGGTCCCAGGAATTCATGCACAGGCAGCATCATCAAGCACCAGCTCCTTGGGTCTTGGGCGTGCCACCTTGAGACCAGTGAGTATGGGTAACAGGGACACAGAGAGAAAAGCAGGAGGCTCTCCATGATTACGAGCCTTCCCAATCTCTCTCCCTCTCCTTTTCACTCCCTCCACCCCAATTCTTTGGAAGCTAGTGAAAAGAAAGCCATTGGTGGAGCTGCTCTTGCTGTGTGTGGGAAGACAGTGTCAAGGCGGAAGGTTCGTGTTTTGACTAGACACTTCCCTGGGGGACTCTTACACTCGCATACCAAGTGAGGAATTTGTCAGCCCACTCAGGCCTGGGGTCCAGACAGAGCCAGTCAGGGGAAACATTAGGACATCCCCCATACCTCCCAAACTGGGACAATTATCATAAAATTGGCACACAGCACTGTGCACCCGGCACTGTTCTGAACACTTTACCTATACTCAATCCTCAAAACCACAACCCTGTGAGATACTATTATCACTTTCATTTTTCAGATGAGGAAACTGAAGCACAGGAGGATATGTACCTTGGCCAAAAAGATACAGATAGAGTGGCAGATCCAGGATTCACATTCAGGCCATTGTTCTTATTCATTATGCTAAAGAGAGATTCAGATATGGTTTCCTGCTAATCCCCATTAGATTTCAGAGTTCCTTGCATTTCTTCCTGAATCATCCTTGTGTATGACTACCTTCTGGGCCCCGTAACCCAGGATTCTGAGTGATTTGAAAGGCTCAGCCTGCCTGGGAGGCAAATGCTTGCCTGTGAATTGGTTGTGGTATTTGTAATTATCAGATAATAATTTCTCCATCTTTTTGCATAGATTACAAAAGAATGAAGTCCAAACAACAGAAATTGCCCATCGGGGAAGCCCCTCTCTCCTCATCTCCCAACACTCACTCCTGCTCAATAGTCAGCTGCCGTCCATGATCCAGAGGAAAGAGATGAAAGACGGGGGATGTGTACAAACACACGTGCCTCTAAGTGTCTTTGTGTTTGGCCGACAGTGTGCTGGGCATTGGCAGTGTATTTCAGGGCAAATCTATGAGCTTTAATACCTGTAGCATGGGAGGAAATGCACAGCTGGCAACCCCCACAGCCCCCTCCCCAGTCCCCTCTCCCCTCTCTAATGAACAATCCTTACCCTATTCTGCTCTCGGGGGATACTTGAGGATGCCAAAGCTGGGGACGTTCTCTTGATTCACATCCGTAGGAGAGTCTAGGGTAAAGCGAACAGTGTAAGTAAGAGGGATCTTTCTGAATGTGAACTACACCCTGATCCAACAGCAAAGGGCTGGCTATGACGGGCAGTGTTCAAAGACAGAGTTGGGAGACTGGGGTGGAAGCAGAGTCTCCCTATCCTTCCTCCCAGCTGCAACAGGACTACCTTATAAAGGTCTCTGCTCCTCTGTTCCCAGGGAAGACTTTCCTGTGGATCCAAGCTGATTGGGATGAAGGGGCCGAGGAACCCTCACTGAAGGTAAGAAAGGTCCTGTCTTTCCCTCTGGTGACAAATATGAGGCACGTGACTTCTGTCATACTCTGCCAGTACCCTAAGCCCTTCCACTGTACCTCCACACACTCCTACCTGGCTGGACGCTCCTCTTGCCCATAAGTCCCACAAAGAAGTCATGCATGTCACCTGCAGAAAAGGGCCAACATTGTCAGCAGTGATGATGAGAAAGTGAAGCATCTCCCCAGACATGGGTCAACACTTCTGAGACTGGGTTTCTGGTCTCTGTTCCTTTTTCTTGTCAAAGCATGACTCCTCACAGTTAGCAAGTGCCTCCCCTAAACCCACTCTCTCTGCTCACCTTTCCTTCCTCCACATTTCAAGAATTTTCTGCTCTAGCAGGTGCCTGATTTGGAATTTTCAGGGCCACGAAGAGATCCCCTTGTTTTCCAAGGACCAGCCAGCAGAGGGAGAGCCCACCATGCCCCTCACACCAGCTTCCTCCTAGTTCTGGATGGCCTCTCCCTTTCAGGAAAGGTTGGCTGAGCAGTGGGAGCTGGCATATTGTTTGTACCAGGTGAGAAGGGGCTGGACAAAATGGCCCCTGGGCCCAATGCCCCACAGAGCTCTGGGCAAGTGGCAAGAGATAGGGAGGGAGAAGAGGGTACTTACGTTTCTCGGGAGATGTTGATTCCTTAGGATCTGTGAAACCAAGAACAGATGTCTAAATGGGGAGTGAAGTTGGAAAGTGATGAGAGCGGGGTTCAGATCACAACCCTCACCGATTCACTAAGCTATCCCCCATCTCTCTCCCATCTGAAAGGATCTCCCAGGCCTCTTATCTTCAGAATCCTGCCCCTCATTCCCCTCTCCCCTAGGGCCGCCTCCTACCTGTGCTAGCCTGGCTCAGGGCTTTGAGCAATCCCTCCAGAGATGAGTGGCTTTTGAAGAGTCTCTGGAGCAGCTGGTAGAGATCTGGATCCCTCTAGGGAAGAAACAAAGAGGGGTGAGGCAGGAGGCTCCCACCCGGATCCACTCATCCTTTTCCCACAAGAAACAGCCTCTTCCTGAGCCCATCCTGAATCCGACACCCTATTTCTTTCAGAGTTTCCTCTGGTTCACACTGGACGAGAAGTAGGTGCTCCAGGAGTGACCTGTGGACCAACAGCAACACCAGCACTACACAGAGCCTGTTAGAAATGCAGACTCTTGTTCCTACCCCAGACCTCCTGAGACAGAATCTGCATTTTAAGCAGCCCCCCAGGTGATTCACATGCATGGTGAGATTGGAGGCACACATCTGCACCTGTGATTCCCCCACTCTGCACGATGTCCATGGATGTTTCTCTCCCTGTTTTCCACCACCTCTTTCTCTATTCTCCATGGCTTTCCGCCTCTAGTTTTCTCTCCCTCTCCCTTTTGGCCCTAGGTCTAGAATTCCAGGAAGGCAACATGCTCAGAAGGCACGTCTTCTTCTCTCCACAACTGAATCCCAAGTTCTAGAGCTGTTGCCCAGCACGGGCTCTTGATTGTCCCTGTGATTTTTTTTTTTTTTTTAGCAACTTGCGTACAGCAGGGTGGTGGGCACACACCACACAGCCAGTTAATTGCAGCTGCAGAGAGACAATAACAATGATCATGGCTGGAGATTTTCATCTCAAATCTCAAGTCTCAGCAGCGCCTCTCTTTCCAGAACCCAGGCATCCTTCGGCTGTTGTGCACACACAGAAGTGCATTTACACAGAACACACCCCCACACATACCAACCCAGTTGCCTAGGCACACCTATGTACTACCCTCTTCCTGCCCCAATTTCCCTCATCCTCACAGACTCTCAAGGAGAAGGGGTAGGATGGCAATCCCTCTCATTCATTGACCAAGAGGGGCAGAGGGGACATCTCATTGGCCAAGGTCTTGAAACAAGTTTGTCTCAGAAGAACTCAGATACTCTAACTATCCTGGGCTGGAACTTTGTGGCTCCAAACGGTGTCCAGCCCATACTTGGCACTCCCCTGGGTGTTTTTTTTTTTAACGGTTCTGGCCTTTTGGATATGGCACAACTGCTGCCACCTGCAAGGCTGCCCTGGTGATAACTCCCTTGGCCCAGCATGTGGTGTTCAGGCAGCCACTTTTCCCAAATTGTTGAATACTCTGCCCACCTCCTATAATGAGATGCTGAACAGATTTGAGCTGAAGAGGCAGTTAA
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AGCTCCCAGAAACCTTATGTCCTATTCTGCCTGACACCTAACAGGTTGGGAATGCTCCCTCAATGGTAAGATTATGAAAGCTGCAATTATGGGTCCCTCTGAAAGAGCCTGGATGCACAAACAAGCATTAAAAGTAGATTTCCACAATGCACTTGTTTTTGCCATTTGTATAAAATACTATAGCAAAATTGCACTGTAATTATCTTTATGGCCAGTGCATAACGCTGGAGCAGAGTATGTCATCCAGATATAGCTGCTCGTATAATTATCTGGCCGTCGGCAGGACTGAAATAACCATCTAATGAGAGCAAAATGATACAGTAACTACCATGTAATCAGCAAGTTACAGTTATTATAGCTCTTTGTGCCCTCTCACCCAACACTAAATGGGGGGCCAGACTCAGTCTCTGGTCCCAGGAATTCATGCACAGGCAGCATCATCAAGCACCAGCTCCTTGGGTCTTGGGCGTGCCACCTTGAGACCAGTGAGTATGGGTAACAGGGACACAGAGAGAAAAGCAGGAGGCTCTCCATGATTACGAGCCTTCCCAATCTCTCTCCCTCTCCTTTTCACTCCCTCCACCCCAATTCTTTGGAAGCTAGTGAAAAGAAAGCCATTGGTGGAGCTGCTCTTGCTGTGTGTGGGAAGACAGTGTCAAGGCGGAAGGTTCGTGTTTTGACTAGACACTTCCCTGGGGGACTCTTACACTCGCATACCAAGTGAGGAATTTGTCAGCCCACTCAGGCCTGGGGTCCAGACAGAGCCAGTCAGGGGAAACATTAGGACATCCCCCATACCTCCCAAACTGGGACAATTATCATAAAATTGGCACACAGCACTGTGCACCCGGCACTGTTCTGAACACTTTACCTATACTCAATCCTCAAAACCACAACCCTGTGAGATACTATTATCACTTTCATTTTTCAGATGAGGAAACTGAAGCACAGGAGGATATGTACCTTGGCCAAAAAGATACAGATAGAGTGGCAGATCCAGGATTCACATTCAGGCCATTGTTCTTATTCATTATGCTAAAGAGAGATTCAGATATGGTTTCCTGCTAATCCCCATTAGATTTCAGAGTTCCTTGCATTTCTTCCTGAATCATCCTTGTGTATGACTACCTTCTGGGCCCCGTAACCCAGGATTCTGAGTGATTTGAAAGGCTCAGCCTGCCTGGGAGGCAAATGCTTGCCTGTGAATTGGTTGTGGTATTTGTAATTATCAGATAATAATTTCTCCATCTTTTTGCATAGATTACAAAAGAATGAAGTCCAAACAACAGAAATTGCCCATCGGGGAAGCCCCTCTCTCCTCATCTCCCAACACTCACTCCTGCTCAATAGTCAGCTGCCGTCCATGATCCAGAGGAAAGAGATGAAAGACGGGGGATGTGTACAAACACACGTGCCTCTAAGTGTCTTTGTGTTTGGCCGACAGTGTGCTGGGCATTGGCAGTGTATTTCAGGGCAAATCTATGAGCTTTAATACCTGTAGCATGGGAGGAAATGCACAGCTGGCAACCCCCACAGCCCCCTCCCCAGTCCCCTCTCCCCTCTCTAATGAACAATCCTTACCCTATTCTGCTCTCGGGGGATACTTGAGGATGCCAAAGCTGGGGACGTTCTCTTGATTCACATCCGTAGGAGAGTCTAGGGTAAAGCGAACAGTGTAAGTAAGAGGGATCTTTCTGAATGTGAACTACACCCTGATCCAACAGCAAAGGGCTGGCTATGACGGGCAGTGTTCAAAGACAGAGTTGGGAGACTGGGGTGGAAGCAGAGTCTCCCTATCCTTCCTCCCAGCTGCAACAGGACTACCTTATAAAGGTCTCTGCTCCTCTGTTCCCAGGGAAGACTTTCCTGTGGATCCAAGCTGATTGGGATGAAGGGGCCGAGGAACCCTCACTGAAGGTAAGAAAGGTCCTGTCTTTCCCTCTGGTGACAAATATGAGGCACGTGACTTCTGTCATACTCTGCCAGTACCCTAAGCCCTTCCACTGTACCTCCACACACTCCTACCTGGCTGGACGCTCCTCTTGCCCGTAAGTCCCACAAAGAAGTCATGCATGTCACCTGCAGAAAAGGGCCAACATTGTCAGCAGTGATGATGAGAAAGTGAAGCATCTCCCCAGACATGGGTCAACACTTCTGAGACTGGGTTTCTGGTCTCTGTTCCTTTTTCTTGTCAAAGCATGACTCCTCACAGTTAGCAAGTGCCTCCCCTAAACCCACTCTCTCTGCTCACCTTTCCTTCCTCCACATTTCAAGAATTTTCTGCTCTAGCAGGTGCCTGATTTGGAATTTTCAGGGCCACGAAGAGATCCCCTTGTTTTCCAAGGACCAGCCAGCAGAGGGAGAGCCCACCATGCCCCTCACACCAGCTTCCTCCTAGTTCTGGATGGCCTCTCCCTTTCAGGAAAGGTTGGCTGAGCAGTGGGAGCTGGCATATTGTTTGTACCAGGTGAGAAGGGGCTGGACAAAATGGCCCCTGGGCCCAATGCCCCACAGAGCTCTGGGCAAGTGGCAAGAGATAGGGAGGGAGAAGAGGGTACTTACGTTTCTCGGGAGATGTTGATTCCTTAGGATCTGTGAAACCAAGAACAGATGTCTAAATGGGGAGTGAAGTTGGAAAGTGATGAGAGCGGGGTTCAGATCACAACCCTCACCGATTCACTAAGCTATCCCCCATCTCTCTCCCATCTGAAAGGATCTCCCAGGCCTCTTATCTTCAGAATCCTGCCCCTCATTCCCCTCTCCCCTAGGGCCGCCTCCTACCTGTGCTAGCCTGGCTCAGGGCTTTGAGCAATCCCTCCAGAGATGAGTGGCTTTTGAAGAGTCTCTGGAGCAGCTGGTAGAGATCTGGATCCCTCTAGGGAAGAAACAAAGAGGGGTGAGGCAGGAGGCTCCCACCCGGATCCACTCATCCTTTTCCCACAAGAAACAGCCTCTTCCTGAGCCCATCCTGAATCCGACACCCTATTTCTTTCAGAGTTTCCTCTGGTTCACACTGGACGAGAAGTAGGTGCTCCAGGAGTGACCTGTGGACCAACAGCAACACCAGCACTACACAGAGCCTGTTAGAAATGCAGACTCTTGTTCCTACCCCAGACCTCCTGAGACAGAATCTGCATTTTAAGCAGCCCCCCAGGTGATTCACATGCATGGTGAGATTGGAGGCACACATCTGCACCTGTGATTCCCCCACTCTGCACGATGTCCATGGATGTTTCTCTCCCTGTTTTCCACCACCTCTTTCTCTATTCTCCATGGCTTTCCGCCTCTAGTTTTCTCTCCCTCTCCCTTTTGGCCCTAGGTCTAGAATTCCAGGAAGGCAACATGCTCAGAAGGCACGTCTTCTTCTCTCCACAACTGAATCCCAAGTTCTAGAGCTGTTGCCCAGCACGGGCTCTTGATTGTCCCTGTGATTTTTTTTTTTTTTTTAGCAACTTGCGTACAGCAGGGTGGTGGGCACACACCACACAGCCAGTTAATTGCAGCTGCAGAGAGACAATAACAATGATCATGGCTGGAGATTTTCATCTCAAATCTCAAGTCTCAGCAGCGCCTCTCTTTCCAGAACCCAGGCATCCTTCGGCTGTTGTGCACACACAGAAGTGCATTTACACAGAACACACCCCCACACATACCAACCCAGTTGCCTAGGCACACCTATGTACTACCCTCTTCCTGCCCCAATTTCCCTCATCCTCACAGACTCTCAAGGAGAAGGGGTAGGATGGCAATCCCTCTCATTCATTGACCAAGAGGGGCAGAGGGGACATCTCATTGGCCAAGGTCTTGAAACAAGTTTGTCTCAGAAGAACTCAGATACTCTAACTATCCTGGGCTGGAACTTTGTGGCTCCAAACGGTGTCCAGCCCATACTTGGCACTCCCCTGGGTGTTTTTTTTTTTAACGGTTCTGGCCTTTTGGATATGGCACAACTGCTGCCACCTGCAAGGCTGCCCTGGTGATAACTCCCTTGGCCCAGCATGTGGTGTTCAGGCAGCCACTTTTCCCAAATTGTTGAATACTCTGCCCACCTCCTATAATGAGATGCTGAACAGATTTGAGCTGAAGAGGCAGTTAA
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Task1_train_17999
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With a mutation on Chromosome 12 in gene LRP1 (LDL receptor related protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Keratosis pilaris
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GCTGCAGATTCCTGCCTTGTTTGTTGCCTATGTGAATTTGACCCAAAAAGCCTCGGGGTTCCTCGTGGACCCCACAGCGTTGCAATCCTGACCCTATTAGAGAAGCCCACAGGGTCTGGAAGGAAGGGCAGGGGGAGCCCCAGTCCCCGGGCCTGGGCCCTCATAGTGCACCTGTCCCTCAGCTCGGTGCATCAGCAAAGCGTGGGTGTGTGATGGCGACAATGACTGTGAGGATAACTCGGACGAGGAGAACTGCGAGTCCCTGGCCTGCAGGCCACCCTCGCACCCTTGTGCCAACAACACCTCAGTCTGCCTGCCCCCTGACAAGCTGTGTGATGGCAACGACGACTGTGGCGACGGCTCAGATGAGGGCGAGCTCTGCGGTGAGGCCTGGTCCCAGGAGAAGGGTAGGGAGGGTGGCTGGGTAGGAGTCTGGGCCAAGGACAGTCTTTGGGGGACCTGAGTCTAGGAGAGAGCAGCTCTGGCAGCCGGGCAGGCGAGCAGCACCCAGAGTGGTCACCAGCAGCCTGTGTGGACCTGGCGCTCCCCATGGCGCTGTGCTGAGTGAGCCACGCCATTAGAGCAGTTTATCCACAAGGCATCCCTGGGGGCCAGGTGCTCTGTTTTCTCCGTTTGACAGATGGGAGCACTGAGGCATGGAGGGGTTCCATAGTGGTCCCCCAGACTTGGGCCAAGGTAGTACAGCTCCTAAACTGCTGTGGAGACTCAGACCCCTTGCCCACATGCATACCACAGAGAGATGCGGAGTGCTCTTGTGGAGACAAAGGCACCAGGGTTGACTGCTGATGGTCAGGGCAGGCTTCCTGGAGGATGTGGGGATTGCATGGGGTTCCCAAGGACAGGCAGTACTTGCAGAGTGAGTGAGAAGGCATGGGGGCAGGCGCGGTGGCTCACACCTGTCATTCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGCTCAGGAATTTGAGATCAGCCTGGCCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAATTAGCCGGACATGTCTGCAGTCCCAGCTACTTGGGAGGCAGAGGCAGGAGACTCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAACATCCTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCCATCCCAAACAAACAAACAGGCAAGGGGAGGAGGGTGCCCATTCAAGACCAAAAGAGATGAGGTTGGGGGAGTCCAGGAGTCAGGGAGGACCATGTGGTGTGACTTGGGGATGAGGAGCAGAGCAGCCTTATCTGGTCCTCTTAGCCAGGCAGAGCCCCCAGTTCCTTGGAAGGGAGGAGTGGAAGATAAGGCCACAGGGACTGGCTGGGAGAACTGCCGACAGGCTATCAGTCAGGCTGGCAGTTTCCAGGGTGTGCCAGAGGACCAAGGGTGGTATAGGCCCTGCTGCACCCCACCCCAAACCCCTCCAAATCAGGAGAGATCAGCACAAGGGGACTGGACCTAAGGACCTCCCAGGGTCCCTCCCAGGGAGGCAAAAAGCTGGGGCCCCCGCCCTGGGCCCAAGAAGGCAGGAACATATCGAGACCAGACAGAGATATTGAGGGGTGCTCCCTGTGGGAAGGGGAGGTATGGTGCCAGCTGGTGGGTGCAAGGGTCCCAACTCTGGTCCTGAGGGAGCCCAGGAAGTCCTGGGCTGAAGCTCAGCCTGAAGCTCAGCAGGAATGGAGACGAATGGGGCCGTGGGCAGGGCACAAGGACTTGGTCCAGGCTGCCCAGGACTTGGGGCCCAGCAGGGCCGTGGTCTTGCCTCCTCTCAGCTTCTGACCCTGGGTCTGTTCCATGCCTGCCCCTCCCCTAGACCAGTGCTCTCTGAATAACGGTGGCTGCAGCCACAACTGCTCAGTGGCACCTGGCGAAGGCATTGTGTGTTCCTGCCCTCTGGGCATGGAGCTGGGGCCCGACAACCACACCTGCCAGATCCAGAGCTACTGTGCCAAGCATCTCAAATGCAGCCAAAAGTGCGACCAGAACAAGTTCAGCGTGAAGTGCTCCTGCTACGAGGGCTGGGTCCTGGAACCTGACGGCGAGAGCTGCCGCAGCCTGGGTGAGACAACAGTGAGGTGTGGTGGGGCAGGCCGAGGCAGGCCTCTGAGCTGCAGTGGGTTGGGCTTGGTGGCCAGGTGCCAAAGGCTGAGTTTTCCACCCTAGCCCCCAGTGCCCGGACCAGCAGAGACCTGCCTGCGCCAGGACGGGTGGCACACAGGCAGCTAGCCCCTTGCTGACCCCATCACATCCCTCCCATCCCAGACCCCTTCAAGCCGTTCATCATTTTCTCCAACCGCCATGAAATCCGGCGCATCGATCTTCACAAAGGAGACTACAGCGTCCTGGTGCCCGGCCTGCGCAACACCATCGCCCTGGACTTCCACCTCAGCCAGAGCGCCCTCTACTGGACCGACGTGGTGGAGGACAAGATCTACCGCGGGAAGCTGCTGGACAACGGAGGTGACCACCGATTGCTGCCAGGCAGGATGCACACAGGCGGAGCGCTCAGGCGCTAGGGGCCACAGGTCCCATCCAAGTGGCCCCAAAGCAGAGGCTTGGCTCCCCCATCCCCCACACTTCTGTTCATTGGGTTAGATTTTGCTGTGGGTCTCCATGCCTGACGCCCCGTAATTATCGTCAGCAGAACTGCCAGCCTGATAATTAACAAAATGATCAGCCTTACCTTTGAATGGCCTGGAGCTCTGCTCCCCAGATCTAGAATTGCAGGCTTGAAAGAAAAAAGCCACTTAGGAGTGGCGTACCTGAACGCTGCTTTCTGTCCCAGGCAGCGTGGTGCACCCCAGACTTCCTTCAGTCACACACAATAGTGAGTGCCCACTGTACACACTGGGCAGTGGGCATGCAGCAGTGATCAAAACAGGCTGTTTTCAGTTGTGTGGTCAAGGAAGGTCCCCTGAGAAGGTGACATCTGAGCAAAGGCTTCTAAGAGGCACATTTTACTAGAGAAGTTTGTATTGTTTGTAATAATACAAACTTGAATTTGAAACCATTACAAATGTCCATCAACGAGGGGGGAGGCTAAGTAAACTGTGATGATATCCACACTGTGCAACAGTCTCTAAAACAATGAGGCACACACATAATGTATTAGCATGGAAAAATCTTTATGGCAGTCACTTGAGCTCAAGCAGTTGAGGCTGCCGTGAGCCATGATCATGCCACTGCATCCAGCCTTGGTGACAGAAGACCCTGTCTCAAAAAAAAAAAAAAAGTTGGGGAGACAATAGGAGTCCTACTCTTGAATATGGGCACATCAGAAACTTTGGCAGAAGTGCCAGGGTTGAGGGTGGGTCATCGAGGGCTCCCAGGATTTCACACATTCATGCACAGCTCCCCAGGAGACGCTAACCTTTCACTGCCCTCTCTTCTCCAGCCCTGACTAGTTTCGAGGTGGTGATTCAGTATGGCCTGGCCACACCCGAGGGCCTGGCTGTAGACTGGATTGCAGGCAACATCTACTGGGTGGAGAGTAACCTGGATCAGATCGAGGTGGCCAAGCTGGATGGGACCCTCCGGACCACCCTGCTGGCCGGTGACATTGAGCACCCAAGGGCAATCGCACTGGATCCCCGGGATGGGTGAGGACCTTGCCCAGCCTTCTCCTGGCCCCATGGCCCCCCTGAAGTCCCATTCAGCCTGGCCAGGGACACCTTACTCCTCAGTGCCATCTGCCTCCTCCCACCCTCTACCTACGATCCCACCACAGTCGCTCCCTGAGGGCCCTGACTTTAGCCCTCCTGACCCCTCCCCACTCCCCAGGATCCTGTTTTGGACAGACTGGGATGCCAGCCTGCCCCGCATTGAGGCAGCCTCCATGAGTGGGGCTGGGCGCCGCACCGTGCACCGGGAGACCGGCTCTGGGGGCTGGCCCAACGGGCTCACCGTGGACTACCTGGAGAAGCGCATCCTTTGGATTGACGCCAGGTCAGCACCCTCTGTGCCCTGAGAAGGCCCAAGTCTGTGGCACCAGGACGGGGTGGGGAGGAACCTGTGGTGATGAGGGTGATGAGAAGGACCAAGGGATCT
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GCTGCAGATTCCTGCCTTGTTTGTTGCCTATGTGAATTTGACCCAAAAAGCCTCGGGGTTCCTCGTGGACCCCACAGCGTTGCAATCCTGACCCTATTAGAGAAGCCCACAGGGTCTGGAAGGAAGGGCAGGGGGAGCCCCAGTCCCCGGGCCTGGGCCCTCATAGTGCACCTGTCCCTCAGCTCGGTGCATCAGCAAAGCGTGGGTGTGTGATGGCGACAATGACTGTGAGGATAACTCGGACGAGGAGAACTGCGAGTCCCTGGCCTGCAGGCCACCCTCGCACCCTTGTGCCAACAACACCTCAGTCTGCCTGCCCCCTGACAAGCTGTGTGATGGCAACGACGACTGTGGCGACGGCTCAGATGAGGGCGAGCTCTGCGGTGAGGCCTGGTCCCAGGAGAAGGGTAGGGAGGGTGGCTGGGTAGGAGTCTGGGCCAAGGACAGTCTTTGGGGGACCTGAGTCTAGGAGAGAGCAGCTCTGGCAGCCGGGCAGGCGAGCAGCACCCAGAGTGGTCACCAGCAGCCTGTGTGGACCTGGCGCTCCCCATGGCGCTGTGCTGAGTGAGCCACGCCATTAGAGCAGTTTATCCACAAGGCATCCCTGGGGGCCAGGTGCTCTGTTTTCTCCGTTTGACAGATGGGAGCACTGAGGCATGGAGGGGTTCCATAGTGGTCCCCCAGACTTGGGCCAAGGTAGTACAGCTCCTAAACTGCTGTGGAGACTCAGACCCCTTGCCCACATGCATACCACAGAGAGATGCGGAGTGCTCTTGTGGAGACAAAGGCACCAGGGTTGACTGCTGATGGTCAGGGCAGGCTTCCTGGAGGATGTGGGGATTGCATGGGGTTCCCAAGGACAGGCAGTACTTGCAGAGTGAGTGAGAAGGCATGGGGGCAGGCGCGGTGGCTCACACCTGTCATTCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGCTCAGGAATTTGAGATCAGCCTGGCCAACATGGTGAAACCCTGTCTCTGCTAAAAATACAAAAATTAGCCGGACATGTCTGCAGTCCCAGCTACTTGGGAGGCAGAGGCAGGAGACTCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAACATCCTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCCCATCCCAAACAAACAAACAGGCAAGGGGAGGAGGGTGCCCATTCAAGACCAAAAGAGATGAGGTTGGGGGAGTCCAGGAGTCAGGGAGGACCATGTGGTGTGACTTGGGGATGAGGAGCAGAGCAGCCTTATCTGGTCCTCTTAGCCAGGCAGAGCCCCCAGTTCCTTGGAAGGGAGGAGTGGAAGATAAGGCCACAGGGACTGGCTGGGAGAACTGCCGACAGGCTATCAGTCAGGCTGGCAGTTTCCAGGGTGTGCCAGAGGACCAAGGGTGGTATAGGCCCTGCTGCACCCCACCCCAAACCCCTCCAAATCAGGAGAGATCAGCACAAGGGGACTGGACCTAAGGACCTCCCAGGGTCCCTCCCAGGGAGGCAAAAAGCTGGGGCCCCCGCCCTGGGCCCAAGAAGGCAGGAACATATCGAGACCAGACAGAGATATTGAGGGGTGCTCCCTGTGGGAAGGGGAGGTATGGTGCCAGCTGGTGGGTGCAAGGGTCCCAACTCTGGTCCTGAGGGAGCCCAGGAAGTCCTGGGCTGAAGCTCAGCCTGAAGCTCAGCAGGAATGGAGACGAATGGGGCCGTGGGCAGGGCACAAGGACTTGGTCCAGGCTGCCCAGGACTTGGGGCCCAGCAGGGCCGTGGTCTTGCCTCCTCTCAGCTTCTGACCCTGGGTCTGTTCCATGCCTGCCCCTCCCCTAGACCAGTGCTCTCTGAATAACGGTGGCTGCAGCCACAACTGCTCAGTGGCACCTGGCGAAGGCATTGTGTGTTCCTGCCCTCTGGGCATGGAGCTGGGGCCCGACAACCACACCTGCCAGATCCAGAGCTACTGTGCCAAGCATCTCAAATGCAGCCAAAAGTGCGACCAGAACAAGTTCAGCGTGAGGTGCTCCTGCTACGAGGGCTGGGTCCTGGAACCTGACGGCGAGAGCTGCCGCAGCCTGGGTGAGACAACAGTGAGGTGTGGTGGGGCAGGCCGAGGCAGGCCTCTGAGCTGCAGTGGGTTGGGCTTGGTGGCCAGGTGCCAAAGGCTGAGTTTTCCACCCTAGCCCCCAGTGCCCGGACCAGCAGAGACCTGCCTGCGCCAGGACGGGTGGCACACAGGCAGCTAGCCCCTTGCTGACCCCATCACATCCCTCCCATCCCAGACCCCTTCAAGCCGTTCATCATTTTCTCCAACCGCCATGAAATCCGGCGCATCGATCTTCACAAAGGAGACTACAGCGTCCTGGTGCCCGGCCTGCGCAACACCATCGCCCTGGACTTCCACCTCAGCCAGAGCGCCCTCTACTGGACCGACGTGGTGGAGGACAAGATCTACCGCGGGAAGCTGCTGGACAACGGAGGTGACCACCGATTGCTGCCAGGCAGGATGCACACAGGCGGAGCGCTCAGGCGCTAGGGGCCACAGGTCCCATCCAAGTGGCCCCAAAGCAGAGGCTTGGCTCCCCCATCCCCCACACTTCTGTTCATTGGGTTAGATTTTGCTGTGGGTCTCCATGCCTGACGCCCCGTAATTATCGTCAGCAGAACTGCCAGCCTGATAATTAACAAAATGATCAGCCTTACCTTTGAATGGCCTGGAGCTCTGCTCCCCAGATCTAGAATTGCAGGCTTGAAAGAAAAAAGCCACTTAGGAGTGGCGTACCTGAACGCTGCTTTCTGTCCCAGGCAGCGTGGTGCACCCCAGACTTCCTTCAGTCACACACAATAGTGAGTGCCCACTGTACACACTGGGCAGTGGGCATGCAGCAGTGATCAAAACAGGCTGTTTTCAGTTGTGTGGTCAAGGAAGGTCCCCTGAGAAGGTGACATCTGAGCAAAGGCTTCTAAGAGGCACATTTTACTAGAGAAGTTTGTATTGTTTGTAATAATACAAACTTGAATTTGAAACCATTACAAATGTCCATCAACGAGGGGGGAGGCTAAGTAAACTGTGATGATATCCACACTGTGCAACAGTCTCTAAAACAATGAGGCACACACATAATGTATTAGCATGGAAAAATCTTTATGGCAGTCACTTGAGCTCAAGCAGTTGAGGCTGCCGTGAGCCATGATCATGCCACTGCATCCAGCCTTGGTGACAGAAGACCCTGTCTCAAAAAAAAAAAAAAAGTTGGGGAGACAATAGGAGTCCTACTCTTGAATATGGGCACATCAGAAACTTTGGCAGAAGTGCCAGGGTTGAGGGTGGGTCATCGAGGGCTCCCAGGATTTCACACATTCATGCACAGCTCCCCAGGAGACGCTAACCTTTCACTGCCCTCTCTTCTCCAGCCCTGACTAGTTTCGAGGTGGTGATTCAGTATGGCCTGGCCACACCCGAGGGCCTGGCTGTAGACTGGATTGCAGGCAACATCTACTGGGTGGAGAGTAACCTGGATCAGATCGAGGTGGCCAAGCTGGATGGGACCCTCCGGACCACCCTGCTGGCCGGTGACATTGAGCACCCAAGGGCAATCGCACTGGATCCCCGGGATGGGTGAGGACCTTGCCCAGCCTTCTCCTGGCCCCATGGCCCCCCTGAAGTCCCATTCAGCCTGGCCAGGGACACCTTACTCCTCAGTGCCATCTGCCTCCTCCCACCCTCTACCTACGATCCCACCACAGTCGCTCCCTGAGGGCCCTGACTTTAGCCCTCCTGACCCCTCCCCACTCCCCAGGATCCTGTTTTGGACAGACTGGGATGCCAGCCTGCCCCGCATTGAGGCAGCCTCCATGAGTGGGGCTGGGCGCCGCACCGTGCACCGGGAGACCGGCTCTGGGGGCTGGCCCAACGGGCTCACCGTGGACTACCTGGAGAAGCGCATCCTTTGGATTGACGCCAGGTCAGCACCCTCTGTGCCCTGAGAAGGCCCAAGTCTGTGGCACCAGGACGGGGTGGGGAGGAACCTGTGGTGATGAGGGTGATGAGAAGGACCAAGGGATCT
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Subsets and Splits
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