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_2800
|
This alteration in IBA57 (iron-sulfur cluster assembly factor IBA57) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Multiple mitochondrial dysfunctions syndrome 3
|
CAGTCCATACCTGCAATCAACCCCAGCCATGGAGGTGGCTGTACCCCAGGTGTCTCCACTTAGTGCCCCCCCCCCCGACATGCCCCACGCTGCCCAGCCTCTCCTCTTCCCACCATCCGTCTGGTCAGGGGTCATTCTTGTGGTGCCTGCCCAAATCCTCTGAGGAGGGCTGCCTGGAGTGCAGGTCAGAATGGCTCTGGGGCCCCGATTGGGTTCTGAGACTTGGCTTGGGGAGGCAGGTGGTGGGCATGGGCAGAGTGGGCCTCAGGCATGCTGTACCTCCCTGACAACCTCCTGGGCTCCTTGCTCCTCCCTCCTGCCCACCTTAGGACCCTTGGGCTCCTCGATGGCTTCCCTGGGCTGGAACAGGCAGGTCTGGTTCTCAGTGGCTGTGCACACCGTTCCCCTGCGGGGCCCTGCCCATCCCTGCTCCCACATCCAGCGGACTGTTGTCATTTCTGCCCTAGGCTCTGGGACTACTCCGGATGATGCCCTCGGGCAGGCTATTGCAGTTCTGCCAGTCCCTGGGCAAACAGGGTCTGTCTGCGCTGGCCCCTGTGAGCTCGTCTTTGCCTGCTTAGACGAGAGCTCCGGAGGCTCAGCTGCGCACGGCTGTGGGCAGGGCTTTCCATGCGCTGGTCCAGGTGTACCCTGCCTGGCCTGCTGTGCGTTGTCTGCACGCACCCTCGCATTGCTGTGGGCGCGGCACTCTGCGCTGGTCTCCAAGGTGCCCGCATCTAGCTGTGATGCGCGCCTTGGGAGGTGCTGCCTGGTGTGGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCCCTGCGTGTGGTGACCTGGGCGCTTGCCTTAAAGGCGCAGCCCCTTGTGGCTGAGGGCAGAGCTCTTTGCGTTGGTCCACGGTGTGCTCCTCTGCCCGGGTAAGGCGCGCTCCCTCATGCAGCCCTTTCTGGCCCACTCAGTTGGTGAGCTGCCATGCGCCCCTGCCTCTCTCCCTGCAGGCTCCAGGAACACTCGGAGGTGTCTGGCTTCCTTCTGGAGTGTGACAGCTCGGTGCAGGGCGCGCTGCAGAAGCACCTCGCGCTATACAGGATCCGGCGGAAGGTCACGGTGGAGCCGCACCCGGAGCTGCGAGTGTGGGCGGTGTTGCCCAGTTCCCCTGAGGCCTGCGGGGCTGCATCGCTGCAGGAGAGGGCAGGGGCTGCCGCCATCCTCATCCGCGACCCGCGAACAGCACGCATGGGGTGGCGGCTCCTCACCCAGGATGAAGGCCCAGCCCTGGTGCCCGGGGGCCGGCTCGGGGACTTGTGGGATTATCACCAGCACCGATACCTGCAAGGTATGGGTGGGGTGGGCACGCTGGGCTGGATTGCACGGGTGGAGCTGGACGATGTTCAATTCTCGCTGGTTTCCCCCCTCCAATCCCTGCAGGCGTTCCTGAGGGGGTCCGAGACTTGCCTCCTGGGGTGGCCCTGCCCCTGGAGTCCAACCTGGCCTTCATGAACGGCGTGAGCTTCACCAAAGGCTGCTACATTGGCCAGGAGCTGACGGCCCGCACCCACCACATGGGCGTCATCCGCAAGCGCCTCTTCCCTGTCCGGTTCTTGGACCCCCTTCCCACCAGTGGCATCACCCCTGGTGCCACGGTGCTGACTGCCTCAGGACAGACTGTGGGCAAGTTCAGGGCTGGCCAGGGCAACGTGGGGCTGGCCCTGCTGTGGTCAGAGAAGATCAAGGGTCCTCTGCACATCAGAGCCTCTGAGGGTGCCCAGGTGGCCTTAGCCGCATCTGTGCCAGACTGGTGGCCTACAGTCTCCAAGTAGTCCGAAGCCTTGGCTGGCGCAGGCTGATGGGGAGGCTGGGGCCTGGGGCCTTTGGCCTCTGTCCAGGGTCTTCCCGTCCCATCTGTCTGCTGCGCCTACTGGGTGGGAGCCCTGGTTTCCATCTGGGAAAGTCCCCCTTGTAGGTGCCCTGCCTGGCCCCACCCATGCTCAGGGGCCCCAGGCACGTGGGTTGTTTTCTCCCTGGACTTCCTGTGGCCCCAGAGGAGCCCACCGTGTGAGTGCTGGGCTCCAGATGGCGCCGGGTCCCAATCGTGGCTCCACACAGGGTTGTCTGGGAGGACGGGACGGTGTCTCTGGCCAGCACTGGCAGCTTCCGGGCCTTGTACCCCACTCTGCCTGGCATGAGCCTCATGGGGGGTTGGTCCCTGTGCCTGGAAGCGGGGTGGTGTCCAGGGTCTGCAGGCTGGGGCTCGGGCTTTGGGAGTTGTTTCACTGTGCTTGCTTCCAGCATGTCTCAGGGTGGGGCTATGCGTGGTCTAGAGGGGTCTGGGGCATTGGATCAGGTGGCATGTGGGTGTCTACACATCGAGAAGCACACAGGGATGAGCCACTAGGTATCCCATGCTGGAGGCTTGTGGAAGGCTGTGCCCATCTCCCATGTTTCCCCACCTCTGTTCCTCCTCAGAGCCCTCCAGGAGCGTGGGGTGGGGGCCAGCGCAGGGCTCAGGAGCCAGCAGGGCAGAGTTCTGCCTGTGTGTGCTGGGTTTTGGCATAGCCTGTGTTTGCAGTGAGAGTGACTTGCTGTCAGTCACGGGGCACAGCCTCCTGTTCACCCACTGGCTTCCCCCTTCCCACTGAAGTGTGAGCTCTATGTTTCAGGGCATCTATTAAAGAGTGAGCCACAGGCAGCCCCTTGGGAGCTCTGGTTTCATTTGGGGGAGAGGGAGGTGGGGGCTTAGTTTTTGTGATCTGGCTGACTGGACCCCGGGAACAGCGCTCCTTTGAGAACGCCCAGACCTACCAGATGAAGCACTTGGCATGGCTGCAGGCCAGCAGGGGAGGCCTCAGAGGCCCAGGCTGGGCACGTGGGTGCCGAGTCTGCAAAGGACAGCCCCATGGCTGTGAGCTGTCGGCTGCAGGGCGCAGGGCCTGGGGGGCAGGCGTTTGGGCCACCAAGCTGGACGTTAGGGTGGCCACAGAGGGCCAAGCAGGCAGGGAGCCTGTGCCGCCATCCTGGGGGGCCACAGGTGCTCTCTAGAAATCTGCAGCCATGGCGGTTTTGGGGTCAGGGGTCTAAAGGCAGCTCTGAGCTGCAGTGTAGTTTGTGATCACCCAGGAGGAGGGTGTAGAGCGGATGGACGGGAGGAAGCGGCTGCAGCTGGAGGGAAGAGAGGGGCCGTCCAGCCTCACCCGCTGCAGTCAGCTCTCCTATGGGCAAGGAAACAGCTAGGTGGCCCTGACCCCTGCGGTCCTGAGAGCCGGTGGCCTTCAGCCCCTCTTGGACAGGTCATGGTCTGGAAGCGCCCAGCGCAGGATGGATTCCAGACCAGCATCCCTGCAACCTTTTCAGCCCCACTGGCTGCTGCTTTAAACTGGCATGGAGACATTTGATCAGCTTCCCAGCCAGTTTTCTCTCCAGCTCAGCCAGGAGTGGGTGCCTGTGGCCTGTGTCACCAAGAGCTGGTGTCTCCTGCATGAGGGGCATGCACCCCTGGAATGAGGGTCTGTGCCTCGAGCTCAAAGTGTCCCGGCTCTGTCATCTGCCTGAAGTTGCCTGGCTTTTCCAGTGGGGCCTCCTTGAGTGCTGCAGCATCTGGGAGCATCCTAGCCTGTCCCGTGGGTGTGGCTGGGTGAGGGCTAGGAGGTGAGCCAGGAAGGAAGCACTCCACTCCAGAGTGAGGTGCCGCCTGAGCCATCCTGTGCCCCCTCAGTGTCTTCAGGTCTCTGCAGGTGTCA
|
CAGTCCATACCTGCAATCAACCCCAGCCATGGAGGTGGCTGTACCCCAGGTGTCTCCACTTAGTGCCCCCCCCCCCGACATGCCCCACGCTGCCCAGCCTCTCCTCTTCCCACCATCCGTCTGGTCAGGGGTCATTCTTGTGGTGCCTGCCCAAATCCTCTGAGGAGGGCTGCCTGGAGTGCAGGTCAGAATGGCTCTGGGGCCCCGATTGGGTTCTGAGACTTGGCTTGGGGAGGCAGGTGGTGGGCATGGGCAGAGTGGGCCTCAGGCATGCTGTACCTCCCTGACAACCTCCTGGGCTCCTTGCTCCTCCCTCCTGCCCACCTTAGGACCCTTGGGCTCCTCGATGGCTTCCCTGGGCTGGAACAGGCAGGTCTGGTTCTCAGTGGCTGTGCACACCGTTCCCCTGCGGGGCCCTGCCCATCCCTGCTCCCACATCCAGCGGACTGTTGTCATTTCTGCCCTAGGCTCTGGGACTACTCCGGATGATGCCCTCGGGCAGGCTATTGCAGTTCTGCCAGTCCCTGGGCAAACAGGGTCTGTCTGCGCTGGCCCCTGTGAGCTCGTCTTTGCCTGCTTAGACGAGAGCTCCGGAGGCTCAGCTGCGCACGGCTGTGGGCAGGGCTTTCCATGCGCTGGTCCAGGTGTACCCTGCCTGGCCTGCTGTGCGTTGTCTGCACGCACCCTCGCATTGCTGTGGGCGCGGCACTCTGCGCTGGTCTCCAAGGTGCCCGCATCTAGCTGTGATGCGCGCCTTGGGAGGTGCTGCCTGGTGTGGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCCCTGCGTGTGGTGACCTGGGCGCTTGCCTTAAAGGCGCAGCCCCTTGTGGCTGAGGGCAGAGCTCTTTGCGTTGGTCCACGGTGTGCTCCTCTGCCCGGGTAAGGCGCGCTCCCTCATGCAGCCCTTTCTGGCCCACTCAGTTGGTGAGCTGCCATGCGCCCCTGCCTCTCTCCCTGCAGGCTCCAGGAACACTCGGAGGTGTCTGGCTTCCTTCTGGAGTGTGACAGCTCGGTGCAGGGCGCGCTGCAGAAGCACCTCGCGCTATACAGGATCCGGCGGAAGGTCACGGTGGAGCCGCACCCGGAGCTGCGAGTGTGGGCGGTGTTGCCCAGTTCCCCTGAGGCCTGCGGGGCTGCATCGCTGCAGGAGAGGGCAGGGGCTGCCGCCATCCTCATCCGCGACCCGCGAACAGCACGCATGGGGTGGCGGCTCCTCACCCAGGATGAAGGCCCAGCCCTGGTGCCCGGGGGCCGGCTCGGGGACTTGTGGGATTATCACCAGCACCGATACCTGCAAGGTATGGGTGGGGTGGGCACGCTGGGCTGGATTGCACGGGTGGAGCTGGACGATGTTCAATTCTCGCTGGTTTCCCCCCTCCAATCCCTGCAGGCGTTCCTGAGGGGGTCCGAGACTTGCCTCCTGGGGTGGCCCTGCCCCTGGAGTCCAACCTGGCCTTCATGAACGGCGTGAGCTTCACCAAAGGCTGCTACATTGGCCAGGAGCTGACGGCCCGCACCCACCACATGGGCGTCATCCGCAAGCGCCTCTTCCCTGTCCGGTTCTTGGACCCCCTTCCCACCAGTGGCATCACCCCTGGTGCCACGGTGCTGACTGCCTCAGGACAGACTGTGGGCAAGTTCAGGGCTGGCCCGGGCAACGTGGGGCTGGCCCTGCTGTGGTCAGAGAAGATCAAGGGTCCTCTGCACATCAGAGCCTCTGAGGGTGCCCAGGTGGCCTTAGCCGCATCTGTGCCAGACTGGTGGCCTACAGTCTCCAAGTAGTCCGAAGCCTTGGCTGGCGCAGGCTGATGGGGAGGCTGGGGCCTGGGGCCTTTGGCCTCTGTCCAGGGTCTTCCCGTCCCATCTGTCTGCTGCGCCTACTGGGTGGGAGCCCTGGTTTCCATCTGGGAAAGTCCCCCTTGTAGGTGCCCTGCCTGGCCCCACCCATGCTCAGGGGCCCCAGGCACGTGGGTTGTTTTCTCCCTGGACTTCCTGTGGCCCCAGAGGAGCCCACCGTGTGAGTGCTGGGCTCCAGATGGCGCCGGGTCCCAATCGTGGCTCCACACAGGGTTGTCTGGGAGGACGGGACGGTGTCTCTGGCCAGCACTGGCAGCTTCCGGGCCTTGTACCCCACTCTGCCTGGCATGAGCCTCATGGGGGGTTGGTCCCTGTGCCTGGAAGCGGGGTGGTGTCCAGGGTCTGCAGGCTGGGGCTCGGGCTTTGGGAGTTGTTTCACTGTGCTTGCTTCCAGCATGTCTCAGGGTGGGGCTATGCGTGGTCTAGAGGGGTCTGGGGCATTGGATCAGGTGGCATGTGGGTGTCTACACATCGAGAAGCACACAGGGATGAGCCACTAGGTATCCCATGCTGGAGGCTTGTGGAAGGCTGTGCCCATCTCCCATGTTTCCCCACCTCTGTTCCTCCTCAGAGCCCTCCAGGAGCGTGGGGTGGGGGCCAGCGCAGGGCTCAGGAGCCAGCAGGGCAGAGTTCTGCCTGTGTGTGCTGGGTTTTGGCATAGCCTGTGTTTGCAGTGAGAGTGACTTGCTGTCAGTCACGGGGCACAGCCTCCTGTTCACCCACTGGCTTCCCCCTTCCCACTGAAGTGTGAGCTCTATGTTTCAGGGCATCTATTAAAGAGTGAGCCACAGGCAGCCCCTTGGGAGCTCTGGTTTCATTTGGGGGAGAGGGAGGTGGGGGCTTAGTTTTTGTGATCTGGCTGACTGGACCCCGGGAACAGCGCTCCTTTGAGAACGCCCAGACCTACCAGATGAAGCACTTGGCATGGCTGCAGGCCAGCAGGGGAGGCCTCAGAGGCCCAGGCTGGGCACGTGGGTGCCGAGTCTGCAAAGGACAGCCCCATGGCTGTGAGCTGTCGGCTGCAGGGCGCAGGGCCTGGGGGGCAGGCGTTTGGGCCACCAAGCTGGACGTTAGGGTGGCCACAGAGGGCCAAGCAGGCAGGGAGCCTGTGCCGCCATCCTGGGGGGCCACAGGTGCTCTCTAGAAATCTGCAGCCATGGCGGTTTTGGGGTCAGGGGTCTAAAGGCAGCTCTGAGCTGCAGTGTAGTTTGTGATCACCCAGGAGGAGGGTGTAGAGCGGATGGACGGGAGGAAGCGGCTGCAGCTGGAGGGAAGAGAGGGGCCGTCCAGCCTCACCCGCTGCAGTCAGCTCTCCTATGGGCAAGGAAACAGCTAGGTGGCCCTGACCCCTGCGGTCCTGAGAGCCGGTGGCCTTCAGCCCCTCTTGGACAGGTCATGGTCTGGAAGCGCCCAGCGCAGGATGGATTCCAGACCAGCATCCCTGCAACCTTTTCAGCCCCACTGGCTGCTGCTTTAAACTGGCATGGAGACATTTGATCAGCTTCCCAGCCAGTTTTCTCTCCAGCTCAGCCAGGAGTGGGTGCCTGTGGCCTGTGTCACCAAGAGCTGGTGTCTCCTGCATGAGGGGCATGCACCCCTGGAATGAGGGTCTGTGCCTCGAGCTCAAAGTGTCCCGGCTCTGTCATCTGCCTGAAGTTGCCTGGCTTTTCCAGTGGGGCCTCCTTGAGTGCTGCAGCATCTGGGAGCATCCTAGCCTGTCCCGTGGGTGTGGCTGGGTGAGGGCTAGGAGGTGAGCCAGGAAGGAAGCACTCCACTCCAGAGTGAGGTGCCGCCTGAGCCATCCTGTGCCCCCTCAGTGTCTTCAGGTCTCTGCAGGTGTCA
|
Task1_train_2801
|
This variant affects the gene ACTA1 (actin alpha 1, skeletal muscle) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
|
TAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGT
|
TAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGAGCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGT
|
Task1_train_2802
|
Consider a variant on Chromosome 1 in gene ACTA1 (actin alpha 1, skeletal muscle). Determine its clinical classification and disease relevance.
|
Pathogenic; Alpha-actinopathy
|
AGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCA
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AGGCAGGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGGCAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCA
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Task1_train_2803
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Here is a genetic alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Actin accumulation myopathy
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GGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTC
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GGGTTTCACCACGCTGGACAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCAAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTC
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Task1_train_2804
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Given this context: Chromosome 1, gene ACTA1 (actin alpha 1, skeletal muscle) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Alpha-actinopathy
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TCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGT
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TCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCATCTGGCCACGAATGAATTATTTAAGCTATGTGTGTGTAGGTTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCGCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGT
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Task1_train_2805
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Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
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TTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGC
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TTATGTTTGCTCAGATATGCCTTTGCATATTCAATATTACCAATATGTTAGAGTATTATTATATCAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATGTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGC
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Task1_train_2806
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This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Actin accumulation myopathy
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CAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACT
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CAGATATGTATATATGTGGTTAGTATTATCAACAAAAGCTGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACCTCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACT
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Task1_train_2807
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Here is a genetic alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Actin accumulation myopathy
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TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGAC
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TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGACCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGAC
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Task1_train_2808
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A change on Chromosome 1 affects gene ACTA1 (actin alpha 1, skeletal muscle). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
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TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGAC
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TGTATACCTCTGAAAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGACCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGAC
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Task1_train_2809
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A change on Chromosome 1 affects gene ACTA1 (actin alpha 1, skeletal muscle). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Alpha-actinopathy
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AAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCT
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AAGACTAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTGGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCT
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Task1_train_2810
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This mutation occurs in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
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TAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGG
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TAGTATTTAGCCCATTTTTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGCCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGG
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Task1_train_2811
|
Given this context: Chromosome 1, gene ACTA1 (actin alpha 1, skeletal muscle) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Actin accumulation myopathy
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TTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGA
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TTAACCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTCTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGA
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Task1_train_2812
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This sequence variant lies in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Actin accumulation myopathy
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CCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAG
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CCTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGCAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAG
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Task1_train_2813
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Consider this mutation in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Actin accumulation myopathy
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CTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGG
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CTTCATCCACCCTGAGTGGGACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTGGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGG
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Task1_train_2814
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A variant was discovered in gene ACTA1 (actin alpha 1, skeletal muscle), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Progressive scapulohumeroperoneal distal myopathy
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ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
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ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCACCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
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Task1_train_2815
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This mutation occurs in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Actin accumulation myopathy
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ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
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ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCACCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
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Task1_train_2816
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This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Nemaline myopathy 2
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ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
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ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCACCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
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Task1_train_2817
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Here is a mutation in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Actin accumulation myopathy
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ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
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ACAATACAAGGTTTTCAATGAACATGGTATTATATACTTCTTTTATTAAAATCTTAAATTTTAGCAATATTGTCAACTCTCTTGATATCTGGATTTGACAGTACCATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCTCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCC
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Task1_train_2818
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This is a variant in ACTA1 (actin alpha 1, skeletal muscle), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Actin accumulation myopathy
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CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
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CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACAGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
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Task1_train_2819
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Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Neuromuscular disease
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CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
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CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACGGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
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Task1_train_2820
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Given this variant in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Actin accumulation myopathy
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CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
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CATGCCTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACGGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGC
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Task1_train_2821
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Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Actin accumulation myopathy
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CTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGG
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CTTTTGAGGCCTCAAAGATTTCTGAAGTTTTTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGGAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGG
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Task1_train_2822
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This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Actin accumulation myopathy
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TTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTT
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TTCAATAAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGTGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTT
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Task1_train_2823
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This variant lies on Chromosome 1 and affects the gene ACTA1 (actin alpha 1, skeletal muscle). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Actin accumulation myopathy
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AAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCT
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AAGCCAGAAGATGAGGGATTAAACATATGACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGTGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCT
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Task1_train_2824
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Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Actin accumulation myopathy
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GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
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GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCGGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
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Task1_train_2825
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A sequence alteration has been identified in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Fetal akinesia deformation sequence 1
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GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
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GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCTGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
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Task1_train_2826
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A variant on Chromosome 1 in gene ACTA1 (actin alpha 1, skeletal muscle) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Arthrogryposis multiplex congenita
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GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
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GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCTGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
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Task1_train_2827
|
This sequence change occurs on Chromosome 1, altering ACTA1 (actin alpha 1, skeletal muscle). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Actin accumulation myopathy
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GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
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GACTACGTGGCATGTAACATAGCTATTTTGTCAATTGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCTGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCT
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Task1_train_2828
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This is a variant in ACTA1 (actin alpha 1, skeletal muscle), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Actin accumulation myopathy
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TGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCC
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TGCAGCTATAAACTTATTTACAAACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGTAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCC
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Task1_train_2829
|
This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Actin accumulation myopathy
|
AACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCG
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AACGAGTTTATTACTTTGAGTCTGAATCCATTATATTTAGGGGCCACTGCTCTTGAGAAACTTGACTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTGGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCG
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Task1_train_2830
|
This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Actin accumulation myopathy
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CTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGC
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CTAGGAAACATTAAGCTCCCTTTAAGGAATAGGTATTGCACTCTCCCACAGAAGTTCAAACTGTTGATAAATTTGATGCCTTTAAAACTTGTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAACTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGC
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Task1_train_2831
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This genomic variant is located on Chromosome 1, within the ACTA1 (actin alpha 1, skeletal muscle) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Actin accumulation myopathy
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GTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTG
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GTTTTGGGGGTGAGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGATCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTG
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Task1_train_2832
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The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Actin accumulation myopathy
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AGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGG
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AGGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGCAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGG
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Task1_train_2833
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The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Actin accumulation myopathy
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GGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGG
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GGGTGTTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTTGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGG
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Task1_train_2834
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Here is a genetic alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
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TTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGC
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TTCCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCATGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGC
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Task1_train_2835
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A genomic change on Chromosome 1 affects ACTA1 (actin alpha 1, skeletal muscle). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Actin accumulation myopathy
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CCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCC
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CCTCCTCCCCTTGCTTACCTCCCCGTCTTCCAGCGTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGATCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCC
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Task1_train_2836
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This gene mutation involves ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Actin accumulation myopathy
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GTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGA
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GTGAGCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGACCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGA
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Task1_train_2837
|
Gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Actin accumulation myopathy
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GCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGG
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GCCTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCAGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGG
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Task1_train_2838
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The gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 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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CTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGT
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CTCAGCTTCCCACCCCTCCGACGCTTCTTTGCTGCCCTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGTCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGT
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Task1_train_2839
|
A variant was discovered in gene ACTA1 (actin alpha 1, skeletal muscle), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Nemaline myopathy 3, autosomal dominant or recessive
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CTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATG
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CTTCTTTCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCTCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATG
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Task1_train_2840
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A sequence alteration has been identified in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Actin accumulation myopathy
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TCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCG
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TCTGGAGCTCTCACTTGGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGTCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCG
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Task1_train_2841
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Here is a variant affecting ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Congenital myopathy 2c, severe infantile, autosomal dominant
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GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
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GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCAAGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
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Task1_train_2842
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A mutation on Chromosome 1 affecting ACTA1 (actin alpha 1, skeletal muscle) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Actin accumulation myopathy
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GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
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GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCAAGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
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Task1_train_2843
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A variant was discovered in gene ACTA1 (actin alpha 1, skeletal muscle), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Progressive scapulohumeroperoneal distal myopathy
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GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
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GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCAGGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
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Task1_train_2844
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A variant on Chromosome 1 in gene ACTA1 (actin alpha 1, skeletal muscle) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Alpha-actinopathy
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GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
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GGCCCTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCATGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAAC
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Task1_train_2845
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Given this variant in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Actin accumulation myopathy
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CTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCA
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CTCCCTTGCCTCCTTCCCAGGTCCTGCACGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTTTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCA
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Task1_train_2846
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A mutation on Chromosome 1 affecting ACTA1 (actin alpha 1, skeletal muscle) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Actin accumulation myopathy
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CGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGT
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CGAGGGGGTGTTTCTTTCTACCAGCAGCACCTGGTGTGAAGCAAAGGACTTCCCCATTGGAGAGAGGCAGTGACGGTCTTCACTTGCAAATTAAAACTCATTTATTAAGCCTGGACATAGTGGCACAGACCTGTAATCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCGCGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGT
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Task1_train_2847
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A variant affecting Chromosome 1, within the gene ACTA1 (actin alpha 1, skeletal muscle), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Actin accumulation myopathy
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TCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGG
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TCCCAGAACTTTGAGGGGCTGAGGCAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGCTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGG
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Task1_train_2848
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This sequence variant lies in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Actin accumulation myopathy
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CAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGC
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CAGAAGCATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACGGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGC
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Task1_train_2849
|
The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Actin accumulation myopathy
|
CATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCAC
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CATTGCTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGCCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCAC
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Task1_train_2850
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The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Alpha-actinopathy
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CTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTG
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CTTGTGGCCAGGAGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGCATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTG
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Task1_train_2851
|
Gene ACTA1 (actin alpha 1, skeletal muscle), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Actin accumulation myopathy
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AGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAG
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AGTTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTAAATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAG
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Task1_train_2852
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This variant impacts the gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Actin accumulation myopathy
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TTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGG
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TTCGAGACCAGCCTGGGCAGCATAACAAGACCCTGAGACCCTGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACACGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGG
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Task1_train_2853
|
A mutation found in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Actin accumulation myopathy
|
TGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCC
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TGTCTCTACAATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCATCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCC
|
Task1_train_2854
|
This alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Actin accumulation myopathy
|
AATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTC
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AATAAAAATAAAAAACTGGCTGGACGCGGTGGCACATGCGAAAATATTAGCAACTGGGGAGGCTGAGGTGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGCTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTC
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Task1_train_2855
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A variant affecting Chromosome 1, within the gene ACTA1 (actin alpha 1, skeletal muscle), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Actin accumulation myopathy
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TGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAG
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TGGGAGGACCCCTTGAGCTCAATTAGAGGATACAGTTGGGCTCTGATCACACCACTGCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCTTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAG
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Task1_train_2856
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This alteration in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Non-immune hydrops fetalis
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GCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGG
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GCTCTCCACCGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCGGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGG
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Task1_train_2857
|
Given a variant located on Chromosome 1 and affecting ACTA1 (actin alpha 1, skeletal muscle), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; not provided
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CGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGG
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CGTGGGCGACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGACAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGG
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Task1_train_2858
|
This variant lies on Chromosome 1 and affects the gene ACTA1 (actin alpha 1, skeletal muscle). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Actin accumulation myopathy
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ACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGC
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ACAGGGCGAGACCCTGTCTCTATTAAAAAACAAAAACAAAAACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACCTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGC
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Task1_train_2859
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This alteration occurs within gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Actin accumulation myopathy
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AACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCA
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AACAAAAACAAAATGACTTGTTACATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCGCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCA
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Task1_train_2860
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The variant affects gene ACTA1 (actin alpha 1, skeletal muscle), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Actin accumulation myopathy
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CATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGA
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CATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCCTACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGA
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Task1_train_2861
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This genomic variant is located on Chromosome 1, within the ACTA1 (actin alpha 1, skeletal muscle) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Actin accumulation myopathy
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ATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAG
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ATGCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCACACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAG
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Task1_train_2862
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A variant was discovered on Chromosome 1, affecting ACTA1 (actin alpha 1, skeletal muscle). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Actin accumulation myopathy
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GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
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GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATAACGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
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Task1_train_2863
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The following genetic variant occurs in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Congenital myopathy
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GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
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GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATATCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
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Task1_train_2864
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Given this variant in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Actin accumulation myopathy
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GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
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GCAGAACACAACCCCCTCTCAGATCTGGAGATTCAGTAGGGGAACACCATAGGCGGAGCTGAGACGCCCTCTGAGAAACAGCTCTCCAGCCCCAGCACCATGGTCAGCGCCCGCTGCCTGAGGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATATCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCT
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Task1_train_2865
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This sequence change occurs on Chromosome 1, altering ACTA1 (actin alpha 1, skeletal muscle). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Actin accumulation myopathy
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GGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTC
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GGGGACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCCGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTC
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Task1_train_2866
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A variant has been detected on Chromosome 1 in ACTA1 (actin alpha 1, skeletal muscle). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Alpha-actinopathy
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ACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTG
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ACCCAGGGCCACCAGCGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTATCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTG
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Task1_train_2867
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This mutation is located in gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Alpha-actinopathy
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CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
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CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCAAGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
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Task1_train_2868
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A mutation found in ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; See cases
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CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
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CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCAGGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
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Task1_train_2869
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Mutation context: Chromosome 1, Gene ACTA1 (actin alpha 1, skeletal muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Actin accumulation myopathy
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CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
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CGGAGGCCGCCCCGGCAGTGCTGGCAACACTCGGGAGCGCTGCGCAGAGGAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCAGGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTG
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Task1_train_2870
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Here is a variant affecting ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Actin accumulation myopathy
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GAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAG
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GAAGAAAGCTGCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCGTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAG
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Task1_train_2871
|
Gene ACTA1 (actin alpha 1, skeletal muscle) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Actin accumulation myopathy
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GCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTG
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GCCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGTCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTG
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Task1_train_2872
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This variant affects gene ACTA1 (actin alpha 1, skeletal muscle) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Actin accumulation myopathy
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CCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTGG
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CCTCGCCACACCCCAGAGGGTCAAGTCAGGCCACCACTAGCTGCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCTGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTGG
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Task1_train_2873
|
A genomic change on Chromosome 1 affects ACTA1 (actin alpha 1, skeletal muscle). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Actin accumulation myopathy
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GCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTCGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTGGAGGTGGAGATGGGTGAGGGGCTCTTCCTAGATGAGGCTTAGC
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GCCAGTGATCTGGAATGGATCTGATCCACTGCAGAAACCGGCAGGGGAGCATGGGAAGATGTAAGTTTTGTCTTCCAAGGAGCCCATTCATTTGGGGTATCGTGAAAAGTGACTTAAGAGGATGTGGGGGATGGGAATCCCTCTTCCTGCTCCACTCCCGCCCCAAGCAAATAAACACGACCACTTTACGCAGCTTAACAGAATGACTTTAATGCTTCTTCAAGTTTTCCATTTTCTTCCACAGGGCTTTGTTTCGAAAAATAACAAAATGAGGTAATAAGTTAATGTATGTACACGTTATAAACACTGTGTCAGTTTACGATGGCAGCAACGGAAGTTGTTACAAAGAAAGTGACTGCGGGGTGGCTGGAGCTCAGCCGCCCCCCCATTGAGAAGATTCGTCGTCCTGAGAAGTCGCGTGCTGGAGGTGGAGTGTGTCTAGAAGCATTTGCGGTGGACGATGGAAGGGCCGGCCTCGTCGTACTCCTGCTTGGTGATCCACATCTGCTGGAAGGTGGACAGCGAGGCCAGGATGGAGCCGCCGATCCACACCGAGTATTTGCGCTCCGGCGGGGCGATGATCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCTTGATCTTCATGGTGCTGGGTGCCAGCGCGGTGATCTCTTTCTGCATGCGGTCAGCGATCCCAGGGTACATCGTGGTGCCCCCCGACATGACGTTGTTGGCATACAGGTCCTTCCTGATGTCGATGTCACACTTCATGATGCTGTTGTAGGTGGTCTCGTGAATGCCCGCCGACTCCATACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTCACCGATGAAGGAGGGCTGGAAGAGCGTCTCCGGGCAGCGGAAGCGCTCGTTGCCGATGGTGATGACCTGCCCGTCTGGCAGCTCGTAGCTCTTTTCCAGGGAGGAGGAGGAGGCGGCCGTCGCCATCTCGTTCTCGAAGTCCAGGGCCACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATCTCGCGCTCAGCTGCGGAGGGCAGAAGCAGGAGAGGAGCCCTCACTCAGGGGCCGCCGCCGGCCCTCCCGCCCGGGGTGCAGGGGCGCCGCGCACCTGTGGTCACGAAGGAGTAGCCACGCTCAGTGAGGATCTTCATCAGGTAGTCGGTGAGATCGCGGCCCGCCAGGTCCAGGCGCATGATGGCGTGCGGCAGCGCGTAGCCCTCATAAATGGGCACGTTGTGGGTGACGCCGTCGCCGGAGTCCAGCACGATGCCTGTGCGCGCGCGGGAGAGAGTGAGTGGCTGGGGGCGAGGCCGAGGCTAGGCTCTCAGCGCTAGCGGCGGGGGCGGGGGCGGGGGCGGGGGCGGGAGAGGGGACTGGGGGCAGCGGGCACTCACCGGTGGTCCTGCCGGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCGGGCACGTTGAAGGTCTCAAACATGATCTGGGTCATCTTCTCGCGGTTGGCCTTGGGATTGAGGGGGGCCTCGGTGAGCAGGGTGGGGTGCTCCTCGGGAGCCACGCGAAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCATCCCAGTTGGTGATGATGCCGTGCTCGATAGGGTACTTCAGGGTCAGGATACCTCTCTTGCTCTGAGCCTCGTCGCCCACGTAGGAATCTTTCTGACCCATACCGACCATGACGCCCTGCAGAGCCGAGACACCACGCACCCGTTAACGCCGCTCCGGGTGGCACCAGGCTGGCTTACGCGGGGACCCCGAGCCGGCTCCCTCTGCGGAGGGGCAGCCTGACCTGGTGTCGGGGGCGGCCCACGATGGACGGGAACACGGCCCTAGGGGCGTCATCCCCGGCGAAGCCGGCTTTCACCAGGCCGGAGCCATTGTCGCACACGAGGGCGGTGGTCTCGTCTTCGTAGCACATTGTGTCTAGTTTCTGCAAGGACAGGGAGACCGCGAAGAGGCGCGGTGCATCAGCGCAGAAGTCTCAGCGGCAGGGGGGGGTAAGCCTGGCTGGCCCCGACGTCCTCCCTCCCCAGGAACCTAGGGACATCTCCTGCCGGAGCCACTCAAATTCTGCCAGGGCGGCGACCAGGGGTTCTCTTCTCGACCTTTGCCCCGGCTAAGGGCTGCCCTGAACCAGGAAAAGGGGCACAGGGTCGCGAGACCCCACTGAGAAGTCCTCTGTCCACATAGCCAGGGGAACATGTTCCCCAAGACCTGTCTGCCCTCCCTGCCTGACACCTGTTCCAGGAGCTGGACGCTAGTGCCCATCCTCTCTGCGCCTCCCTGACCACATCTGTCACCTAGGGAGATAAGGCCTCAGCACTGCCTGCTTGCTGGGCCAGCGTGAGGGTGGAAGGAGATGCCCATGGGAAAGGCGTTGGCACCCCATCCAGGGAAGAGTGGCCTGTTAGGAACCCTGTGACATTTCAAACTCAGAAAGGGCCTTTTCGCCTGTTGGAAACCCAGAATGGGTGGTCCTGGCTGCTCGCTCATTCGCTCTAGCGCTAGTTTGGAAGGGAACTGCCTTGGCGACAACTAAAGCAAAACCGTTTATCTCCCTAGGCACATCCTACATGCCAGGTAAAGGAGCCCAAAGGGGCTAGAGAAAAATTTGGAGAAGTCTAATTTCCAGAGGCTGACTGTCTTGCCTCCTTTTTAAAGCGCGTGTGGCTCCGGAGACGAGGCACAGCGCTCAGGGCGCAGGCCTGGGGCTGACCAGGTGAACCGACTGGGTTCTGCCCCGGAGTCCTTCAGGTTCCCCTCGGTAGTGCCCTGTCCCCCTGTCCCCTCCCAACTCCTGCCCTACCTGGGCGGGTAGCTACAACTGCTACTCTCGGCTCGGGCCCTGGTCGCCGCGGAGGGGAAGCGAGGCTTCACTTGGCGCTGTCCGCTGCGGTGGCCGCTTGTCCCTCTGCTCAGGTTTTATATAGCCCGCGGGCATTCCCTCCGCGCCACCCCGCAGGAATGTCGCTGCCCTTCTCGAGCCATATTTGGGTGTTGGGCACTAGAGCCCCCTCCCTCGGCCGGTTCGCGGCCTGGGCCCCCGCCCGGGTCCCCTGCGTTGACCAAAGAAGGAGCGGGTTGGCCCGGTCCCAGGTAACGCGGGCCGGGCCGTATATGGAGTGTCTCCCTAGCGGGTTTGCCCCTCCTGACCCGACCCAGTTGCCCGCCGGAGGGGATGGGGTGGGGCGAGGGTCACCGCGTTCGCCGGTGGGTGCATGTGTGCGCCTGCGCTCCGGGAACCGCACCTGTCCCAAAGGCCTCCCCAACCATGTCCACTCTGAGCGCCCTGGGCGCTCGGGAAGGTGCCTGACTGCTGACTTCCAATATTTCAACTCCTCTTCGGGTTCTTTGCTCAGATCCCCAAACTCCCACTTGCGACTACCGGGAAGAGGGAGTCGTGTGGAGTGGTGGGCTTGGGAGGATTGGAGAAGCAGTCACTCCTGAGTCTCAGGAAGGGAAGGAAGGCGAACTCCCTCTCCTTTACGCCCCTGGAACTCCATTTCTCTCTTCCCACCCCCGAGCTCCCTGAATCCAAAAAGCTGAGCCACGTCGACCCCTTCCCCCACCGCACAGAGGGCCACCGGCGGCCGGAGGGCGCGCAGCTGTCGCAGGATAGACAACTGGCGGGGGGAGGCGAGGGCGGAGCGCCGGGGAGGAGGCGCGGGGGCTCCCGGGGATAGGCCTGTCAGGCGCAAAGCCTGAGCACACGGAGCTGTCCGCCTCAGGGACGCGCAGCGCCCTTGGGTCTCCTAAAGGGATTGAAGGGGTGAGGGTTCCCCTCCTGTAGGACGCACTGGCCCCAGGTTTTGGTGGGCTGAGGCCCTCCCCCAGCCTCTTTGGTGGCACTATGTGTGTCCCTCTCCTGGGGCTGAAAGACAAGGGTCACAACCCAGGACTGGCTAGACCTGGAGTGGAGGTGGAGATGGGTGAGGGGCTCTTCCTAGATGAGGCTTAGC
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Task1_train_2874
|
A genomic change on Chromosome 1 affects COG2 (component of oligomeric golgi complex 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Congenital disorder of glycosylation, type IIq
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CTTCCAGAACTCTTGGAAATAATCAAGCCAAAACTTGAAATGATTGGCTTTAAGAATTTTTCTTCTATCTCAGGTAAAAATGAATCTTGACTAAGCAAATCTTTGAATAAGAAATGATTTAAAATAAAATCTCAGAGACTGTAGGGTATATTTAACATTTTCTTCTGTAGTTGTAAATCCTTGGTTGTTTCTCTATTCTGTATTATAACTTACCTAAATAAGATGTTTTATTTAATTCATTTGATCTGATTTATTATAGTACACAATGTAAATGCTGTGACAGTATTTCAAATGAAGTTCATGTCTGGGCCTGAGCATGATGATTAAATCCAGTCTTTAATCTCAACAGCAGCCCTGGAGGACTCCCAGAGCTCTTTTTCAGCCTGTGTGCCCTCCTTGAGTAGCAAGATCATCCAGGATTTAAGTGACTCTTGCTTCGGTTTCCTAAAAAGCGCCCTGGAGGTTCCCAGGCTTTACCGAAGAACCAATAAGGTCAGCGCCATTTATGGGAGAGAATTTTGAGGTGGGGAAGTGTGTGTTAGGAAAGCCAAAGAGGAAGGAAGGAAGGAAGCGGCGGATTCCCAGGGTAGCCTGAGACAGACTGAGCTCATCCCATTCTGAGAATGGTATTGATGAAGAGAGGGAGGTTGGGCAGGGGTGGTCAGGGGCTCTGGGCCACAAACTGAAATAGTTAGACCTTTCCCATCCTATCCTAAAAGTATTTAAGGATATACTCAGTTTCCTTTTGGTCTTGAGGAAAAGTAGGTTTTTCAGAAGAAAGCATTTTAATAACATTTTAAAGTCCTATACGTTTTTGTCTCCATATCAGGTATTCCACACTTTATATCTTGTTCCCTCTTTATTGTTACTGGAAGCATAGTTGGCCCCTTATCCCCAGGTTCTGCATCCACAGAGTCAACCAACTGTGGATCGAAAATATTTAGGGGGAAAAAAAACTACAACAATAAAAAATAATACATGCCAAATGTGGTGGCTCACACCAAAATCCCAGCATTTTGGGAAGCCGAGGCAGGAGGATTGCTTAAACCTAGGAGTTTGAGACCAGCCTGGGCAATGTCGTGACATCCAGTCTCCACACACAAAAAAAGTTTTTATTAAAAAAAATATAAATTTTAGTAATCTAAAGATGATTTAAACTATACTGAAGGATGTGCATAGGTTATATGCAAATATTATGCCATTTTATATTTGCTCAATAATTATTGTCTGATTTGAAGCTGCCACTTGGAAGTGGGAGAGAGAAACCAATATGTTATTTTTCTTTAGTAATCTACCAACTCTCCCTTTCTATTCAATAGGCTGTTACAGTAATACATTTACTGAGAGTTTGTTATGGGTCATTCACTCTGCTAGACACTTTGCATAGTCTTATTATCCTCCTACAAAATGGGTGCTAGTATTGTCATTTGCAGATGAAGAAACCAGAGCTAAGAAAGGTTACATTCCTGACCCTGTATCCTTGCTTCTCAAACAGTGGTCTAGTGATCAGCAGCATTCACATCACCTTGTGGGTGGGAGCTTGCTAGAAAAGCACAATCCCAGAACTCAACCCTTCCACCCACTGCCCCCAACAGAATTAGAACCTGAGTTTTACGAGATCACCAGGTGATTGGTGTGGACGTGAGGCCACGGGAAGCAGTGCCCTAGTTTCGGTGCCCTGAGCGGTGGGTGGCTGTGCCAGCCAGCACCTCAACCCAGTCTGGCTCCAGACATCACCTTCTTGTGCTGGCTCTTCTTATTCCCTCATGTTCTCCAGGCAGCTTTCTGTGGACCCCAGTGTTACTTTTGGGAGGGATGGAAGTTGTCCGTGTCTCAAAACTAGAACGTTAATAGTATCCTTTTGGACTTGAGTTCTGGGTAACTTACTGTTTCTTTTCTGTTTTTTTCCTGTGCATCTTTATCTCCTACCATCATCATTCCAGGAGGTCCCAACCACAGCTTCCTCCTATGTGGACAGTGCTCTGAAGCCCTTATTCCAGCTTCAGAGCGGACACAAGGATAAGCTCAAACAAGCAATAATTCAGCAGTGGCTAGAAGGCACTCTCAGTGAAAGCACTCATAAGTAAGTAAATTAAAAGCAGACCTTGTGGGCCTTGCTTAGAAGAGTCTGCGGCAGAAACCCCCAAGGCAATCAAGCACTGCGTATGGATAAGGCAGTGAGACTGCCTAGCACTTCTTCACTGGATTAGTCAGAGTGTGTGTCCCACTGTTTGCTTCCTCCCTCCCCACACCCTTGTGGACGGCCTGTGGGCTGGCTTCCTCTGCCTGGGCTTCAGCCTCGGGGCCGGGCCATGTGCACAGTGCCCCCGCATCTCCAGGCCCTGCCTGCGTTCCCTGCAGGTGCCGTTCTCCCAGGTCCAGCCACATTCTTCTGGGAGGCCCTTTCGTTACTCAGACCCTGTCAGTCCAAAGTGGCTCTAATCATAACAGATACTCAAAGGACTTAGGTTGGTGAAACCCTTGTAATCAAGGAAGAGAAAACATACATTTAAAAGTAATTACAGCTGACAAGGACTCGATTCCTAAAACCTCTAAAACACTTGATTGTCTTTTTCTAATGAAATTTGCTTTTCCCAAATCAAAAAGTGTGTTACTCAATTTTGTTACCAATTTTGTTTAATTATTAAATATTAATTTTGCAGTAATATTTTATTTACTTAAGATTTAAGTGGCCATTTATGGGTTAATTTAGAACATAACAATGATGTATAATACAGTTTTTGTGGGCAAATGTATTTCAGATGCCAAGTAACCAGCTTGTAGACAAAGCTTTGAAATATAACTCATTTATAATTTGAAAATTATATTGCAAGTATTTTGAAGGCAATGAGCTTTATTTAAAATTCTGAAATACTTTTACACTCTAAAAGATGAACTGTTCCTAGAACTGATTGGAAATGAACTTGTTACTTGATCTGGGGCATGAACTACAGATGTCCACCCTCGATACATGAAAGACAAAATTGGTCTATAGTTTTCTCCATGTTCAGGATTAAAAATTTAAGCAAAATCCACACACACACATATTTCTTAAATTCTGAGGGAATGCTATGTTAGACACTTAAGACCATATGTGTGTGTGTGTATATATATATACGTATATACATGTATATATATACACATATATATATAAAATGATCTTAAGAAACTTAAATACTTACCGTGGTTGAATTTTCGTTGGAAGTGAATTTTTATCTTAAAAATCTCTTTTTTTGGTCCACAAAGCCAGTTACTCTATTTGGTGTTACACACAAATGCCTCTTTTCACCAATAAACGTGTCTTCTATTCAAGGTACTATGAAACCGTGTCAGATGTATTAAACTCTGTGAAGAAGATGGAAGAGAGCCTGAAAAGGCTGAAACAAGCCAGAAAAACCACTCCCGCCAACCCCGTCGGTCCCAGTGGTGGCATGAGCGACGACGACAAAATCAGGCTGCAGTTGGCCCTAGATGTTGAGTACTTGGGAGAGCAGGTAACCCATCAGCCGCCGGCAGCTCCAGCGAGCCTGAAACCAAATTCTGAGAGCCGGGCAGTTACTTGGTGGCTCGCGTGATCCCAGAGATGCTGTCGCAGTGGCTAGGGAATTGCTTCCTGTGTTAAGACTAGGAGTCGGGGCTCCCAAATTACTTTGCCCCTAGGCAGTATGAGACGGCAATATGAGAATTCCCGTTTTGAAGTCTGGTGGCGTGCTCTCTGGTGCTGTTGCCATCTGCTTGTTTCCCCAGTGCCCATGCTCACGGAGCTCACTACAGTGAGACTTTTTGGTCCAGTGCCTGATACTTAATTGGTGCGAACCCCAGGCTTTTGAAATGCTTGCTGGTTTAGCTTAAAATAACTGAAAGCATTACCCCTCTATGGTGCATGAGAAATCCTTTGAGCATAACTTCTCTGCTTCCCTGCTTGGCCTTTGTAGCTTTCCTATAAAACACAAATTTTAGAATCATGGCACGTAGTTGAATGGTAATGTGGATATTATCACTTAAGAGGTGATATGGATAAGGTGCAATGAATGTCTTTTCATTTTTCACTGAGGTGAAAATGAAATTTCACCATAAAATGAAATTTTATGATACT
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CTTCCAGAACTCTTGGAAATAATCAAGCCAAAACTTGAAATGATTGGCTTTAAGAATTTTTCTTCTATCTCAGGTAAAAATGAATCTTGACTAAGCAAATCTTTGAATAAGAAATGATTTAAAATAAAATCTCAGAGACTGTAGGGTATATTTAACATTTTCTTCTGTAGTTGTAAATCCTTGGTTGTTTCTCTATTCTGTATTATAACTTACCTAAATAAGATGTTTTATTTAATTCATTTGATCTGATTTATTATAGTACACAATGTAAATGCTGTGACAGTATTTCAAATGAAGTTCATGTCTGGGCCTGAGCATGATGATTAAATCCAGTCTTTAATCTCAACAGCAGCCCTGGAGGACTCCCAGAGCTCTTTTTCAGCCTGTGTGCCCTCCTTGAGTAGCAAGATCATCCAGGATTTAAGTGACTCTTGCTTCGGTTTCCTAAAAAGCGCCCTGGAGGTTCCCAGGCTTTACCGAAGAACCAATAAGGTCAGCGCCATTTATGGGAGAGAATTTTGAGGTGGGGAAGTGTGTGTTAGGAAAGCCAAAGAGGAAGGAAGGAAGGAAGCGGCGGATTCCCAGGGTAGCCTGAGACAGACTGAGCTCATCCCATTCTGAGAATGGTATTGATGAAGAGAGGGAGGTTGGGCAGGGGTGGTCAGGGGCTCTGGGCCACAAACTGAAATAGTTAGACCTTTCCCATCCTATCCTAAAAGTATTTAAGGATATACTCAGTTTCCTTTTGGTCTTGAGGAAAAGTAGGTTTTTCAGAAGAAAGCATTTTAATAACATTTTAAAGTCCTATACGTTTTTGTCTCCATATCAGGTATTCCACACTTTATATCTTGTTCCCTCTTTATTGTTACTGGAAGCATAGTTGGCCCCTTATCCCCAGGTTCTGCATCCACAGAGTCAACCAACTGTGGATCGAAAATATTTAGGGGGAAAAAAAACTACAACAATAAAAAATAATACATGCCAAATGTGGTGGCTCACACCAAAATCCCAGCATTTTGGGAAGCCGAGGCAGGAGGATTGCTTAAACCTAGGAGTTTGAGACCAGCCTGGGCAATGTCGTGACATCCAGTCTCCACACACAAAAAAAGTTTTTATTAAAAAAAATATAAATTTTAGTAATCTAAAGATGATTTAAACTATACTGAAGGATGTGCATAGGTTATATGCAAATATTATGCCATTTTATATTTGCTCAATAATTATTGTCTGATTTGAAGCTGCCACTTGGAAGTGGGAGAGAGAAACCAATATGTTATTTTTCTTTAGTAATCTACCAACTCTCCCTTTCTATTCAATAGGCTGTTACAGTAATACATTTACTGAGAGTTTGTTATGGGTCATTCACTCTGCTAGACACTTTGCATAGTCTTATTATCCTCCTACAAAATGGGTGCTAGTATTGTCATTTGCAGATGAAGAAACCAGAGCTAAGAAAGGTTACATTCCTGACCCTGTATCCTTGCTTCTCAAACAGTGGTCTAGTGATCAGCAGCATTCACATCACCTTGTGGGTGGGAGCTTGCTAGAAAAGCACAATCCCAGAACTCAACCCTTCCACCCACTGCCCCCAACAGAATTAGAACCTGAGTTTTACGAGATCACCAGGTGATTGGTGTGGACGTGAGGCCACGGGAAGCAGTGCCCTAGTTTCGGTGCCCTGAGCGGTGGGTGGCTGTGCCAGCCAGCACCTCAACCCAGTCTGGCTCCAGACATCACCTTCTTGTGCTGGCTCTTCTTATTCCCTCATGTTCTCCAGGCAGCTTTCTGTGGACCCCAGTGTTACTTTTGGGAGGGATGGAAGTTGTCCGTGTCTCAAAACTAGAACGTTAATAGTATCCTTTTGGACTTGAGTTCTGGGTAACTTACTGTTTCTTTTCTGTTTTTTTCCTGTGCATCTTTATCTCCTACCATCATCATTCCAGGAGGTCCCAACCACAGCTTCCTCCTATGTGGACAGTGCTCTGAAGCCCTTATTCCAGCTTCAGAGCGGACACAAGGATAAGCTCAAACAAGCAATAATTCAGCAGGGGCTAGAAGGCACTCTCAGTGAAAGCACTCATAAGTAAGTAAATTAAAAGCAGACCTTGTGGGCCTTGCTTAGAAGAGTCTGCGGCAGAAACCCCCAAGGCAATCAAGCACTGCGTATGGATAAGGCAGTGAGACTGCCTAGCACTTCTTCACTGGATTAGTCAGAGTGTGTGTCCCACTGTTTGCTTCCTCCCTCCCCACACCCTTGTGGACGGCCTGTGGGCTGGCTTCCTCTGCCTGGGCTTCAGCCTCGGGGCCGGGCCATGTGCACAGTGCCCCCGCATCTCCAGGCCCTGCCTGCGTTCCCTGCAGGTGCCGTTCTCCCAGGTCCAGCCACATTCTTCTGGGAGGCCCTTTCGTTACTCAGACCCTGTCAGTCCAAAGTGGCTCTAATCATAACAGATACTCAAAGGACTTAGGTTGGTGAAACCCTTGTAATCAAGGAAGAGAAAACATACATTTAAAAGTAATTACAGCTGACAAGGACTCGATTCCTAAAACCTCTAAAACACTTGATTGTCTTTTTCTAATGAAATTTGCTTTTCCCAAATCAAAAAGTGTGTTACTCAATTTTGTTACCAATTTTGTTTAATTATTAAATATTAATTTTGCAGTAATATTTTATTTACTTAAGATTTAAGTGGCCATTTATGGGTTAATTTAGAACATAACAATGATGTATAATACAGTTTTTGTGGGCAAATGTATTTCAGATGCCAAGTAACCAGCTTGTAGACAAAGCTTTGAAATATAACTCATTTATAATTTGAAAATTATATTGCAAGTATTTTGAAGGCAATGAGCTTTATTTAAAATTCTGAAATACTTTTACACTCTAAAAGATGAACTGTTCCTAGAACTGATTGGAAATGAACTTGTTACTTGATCTGGGGCATGAACTACAGATGTCCACCCTCGATACATGAAAGACAAAATTGGTCTATAGTTTTCTCCATGTTCAGGATTAAAAATTTAAGCAAAATCCACACACACACATATTTCTTAAATTCTGAGGGAATGCTATGTTAGACACTTAAGACCATATGTGTGTGTGTGTATATATATATACGTATATACATGTATATATATACACATATATATATAAAATGATCTTAAGAAACTTAAATACTTACCGTGGTTGAATTTTCGTTGGAAGTGAATTTTTATCTTAAAAATCTCTTTTTTTGGTCCACAAAGCCAGTTACTCTATTTGGTGTTACACACAAATGCCTCTTTTCACCAATAAACGTGTCTTCTATTCAAGGTACTATGAAACCGTGTCAGATGTATTAAACTCTGTGAAGAAGATGGAAGAGAGCCTGAAAAGGCTGAAACAAGCCAGAAAAACCACTCCCGCCAACCCCGTCGGTCCCAGTGGTGGCATGAGCGACGACGACAAAATCAGGCTGCAGTTGGCCCTAGATGTTGAGTACTTGGGAGAGCAGGTAACCCATCAGCCGCCGGCAGCTCCAGCGAGCCTGAAACCAAATTCTGAGAGCCGGGCAGTTACTTGGTGGCTCGCGTGATCCCAGAGATGCTGTCGCAGTGGCTAGGGAATTGCTTCCTGTGTTAAGACTAGGAGTCGGGGCTCCCAAATTACTTTGCCCCTAGGCAGTATGAGACGGCAATATGAGAATTCCCGTTTTGAAGTCTGGTGGCGTGCTCTCTGGTGCTGTTGCCATCTGCTTGTTTCCCCAGTGCCCATGCTCACGGAGCTCACTACAGTGAGACTTTTTGGTCCAGTGCCTGATACTTAATTGGTGCGAACCCCAGGCTTTTGAAATGCTTGCTGGTTTAGCTTAAAATAACTGAAAGCATTACCCCTCTATGGTGCATGAGAAATCCTTTGAGCATAACTTCTCTGCTTCCCTGCTTGGCCTTTGTAGCTTTCCTATAAAACACAAATTTTAGAATCATGGCACGTAGTTGAATGGTAATGTGGATATTATCACTTAAGAGGTGATATGGATAAGGTGCAATGAATGTCTTTTCATTTTTCACTGAGGTGAAAATGAAATTTCACCATAAAATGAAATTTTATGATACT
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Task1_train_2875
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A variant found in Chromosome 1 affects GNPAT (glyceronephosphate O-acyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Rhizomelic chondrodysplasia punctata type 2
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CTCCAGAACTCTTCATCTTGCAAAACTGAAATGGTACCCATTCAACACACTCCCCGTTCTACCCTCCCCCTGACCCTGGGCAATCAGCATTCTACTTTCTGTCTCTGTGAACTACTCTAGATGCTTGATATAGGTGGAATCATACAGTACTTGTCCTTTTGTGACTGGCATATTTCACTTAACAGAATGCCCTCAAGGTTCATCCATGTTGCAGCATGTGTCAGAATTTCCTTCCTTTTTGAAGTTGGAAATGCATCTGCTCAAGACCCTGCTTTCCATTTTTTTATATATATACAAAAATGGTATATATGGAATTGCTGGGTCTTGTGGTAATTTTTTTTCATTTTTTGAGGAACCACCATACTGCCTTCCTTAGCAGCTGCACCATTTTACATTCCCACCAAAAGTGCACAAGAGTTCCAGTTGTTCTACATCCTTGCCAACACCTGTTATTTTCTGATATGTTTTATAATAATTTTAATGAGTGTGAAGTGGTATCTCCTTGTAGTTTTGATTTGCATTTCCCTAATGATTAGTGATGCTGAGCATCTTTTTTGTGTGCTTATTGGCCATTTGTATATCTTTGGAGAAATGTCTGTTCAAGTCCGTTATTTTTTAATTAGGTTGTTTGGGGCTTTTTTTGTTGAGTTGTAGGAATTGTTTCTACATCCTGGATATTCACCCCTTATCAGACAGATGATTTGCAAATATTATCTTCCATTTCATGGGTTACCTTTTCACTCTGTTGATTGTGTTATTTGATGCATGGAAGTTTTTAATTGATGTAGTCCAATTGATCTATTTGTTTCTTTGGTTCCCTGGTTCCCTGTGCTTTTGGTATCAGATCGAAGAAATCATTGCCAAATCCGAGGTCATGAAGCTTTTCCCTTATGTTTTATCCTAAGAGTTTTATGGTTTCAGGTCTTACATTAAGATCTTTGGTTTTTTGAGTTAATTTTTGTATATGGTGTAAGTTAAGGGTCCAACTTCATGTCTAACATTAATTTTAATAGCCATATAATATTCAGCAGTGTGGATATTTCATAATTTAGTAGTTTTGCTGTTATAAACAATGTCATAATACATTTTTATATTGGTGCTTTTATTCCTGTAAGATCGATTCCTAAAAGTGGGATTGCTAAGGCATATAAGTTGTTTATCCACTCCCTTTTAGGGTAGCCAGGAAAGCCAGGATTCAAGTATACACGTTTGTTAATAAATGCAGTGAATGGTAAGGTTAAAACTGCCAAGAACTTAAGCACTTTAAAAGCATTTTCATCTGAACAAACTTGTGAGGAAGTTATTTGAAAACTAGGGGAAATGAAGAGAAAGACTATTTTAAAACTGCTGGTAGCAATCTTCCTTTCTTACAAGATTTGCCTTATTTAATCTCTTCCAACAAAAGTAGGTTGATGTTTTTTCCTGGTAGGCAAAAGATGAGAGCGGGTTTGGCCTGGCTGTCCAGAGCATGAAGGGCACATATTGGTCTGTTGTCAGGCTCAGCAGCATGGCTGACTAAAGACATTGACATCATGACATTGTCATGTTGCTCTGCTGTTGCCCCTGGCTCTAGCTGGCCTACTTGTAAAGGGAGTGGTGCATGGAGAAGCACAAGGTAACCTCCCAGTGAGCACCTGGCCCACAGAATCCCTTCTTTTCTATAATTCTATTAGGTATCTCTTATGTATTTTAATGTCAAAGTATAATAATATCATAGGGGTGTCTTACATTTATGAAATCTTTCTTAATAATGTTTGAGTTTAGGCCAGGCACAGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGAGGACTGCTTGAGGCCAGGAAGTTTGTGACCAACCTAGCCAACATAGCGAGACCCTGTCTCATAAAATAAAATAATAAAATATAAATGAAAAATAAGCATGTTTAAGTTTAGATCTTTATAGAAGATTTCAAGATCTGCAAATAAATATTATCCCCTCTTTTTTAGACTTCCTGGGAATGAAAATGGTTGGTGAGCTGCTACGAATGTCGGGTGCCTTTTTCATGCGGCGTACCTTTGGTGGCAATAAACTCTACTGGGCTGTATTCTCTGAATATGTAAAAACTATGTTACGGGTAAATGCAAATAATTCCCAACTACTCTTAAGCCATATTTTCTTCACTGATGTTTGCTCATTTAAACTCTTAACTTCTGAATAGAACACTTAGCTATTTTGCTTTCCCTCAAGAACTGCTTATAACCTCAGCAATTGGTTTAATCTGTGTGACTCTCTTGTTTAATTTTCACTGTAAGCTGTGTTTGTTCAGGAAGCTTGGGAGGGAGCTTGGGAAAAGGAATCAAAAGAAGCATTTATCATTTTGAGAGTAGGCAATGGGTTTTGTGTTTTGTTTGTTTTCTCTTTAAAGAATGGTTATGCTCCTGTTGAATTTTTCCTCGAAGGGACAAGAAGCCGCTCTGCCAAGACATTGACTCCTAAATTTGGTAGGTCACTACAGATTAAAAGGAAAAATACAAACCCAAAGACATCAGCTGCTACATAAAACTTGACGCTTTATTTAACAAGATATTCTTTTCAAGTGTAAATGTATAACTGTTGATATTTACGGGATTAGTGTATAATGTATGCTTTTAGTATTTTCCGTTTATGTGCTCATGTTTGCTCTGCTCTTCAATATGTTGATGAAGCATTTCTCCCTGTGTTTTGCAGGTCTTCTGAATATTGTGATGGAGCCATTTTTTAAAAGAGAAGTTTTTGATACCTACCTTGTCCCAATTAGTATCAGTTATGATAAGATCTTGGAAGAAACTCTTTATGTGTATGAGCTTCTAGGGGTTCCTAAACCAAAAGAGTCTACAACTGTACGTGAGCTTGATTTTAGCTTAATTGAGAGAATGTGCTGACTGACACATCAACTAATTTCTAAATTTACTGCTTTTCGTTTTCTTCCCCCCCTGTTATGGTACTATTAGGGGTTGCTGAAAGCCAGAAAGATTCTCTCTGAAAATTTTGGAAGCATCCATGTGTACTTTGGAGATCCTGTGTCACTTCGATCTTTGGCAGCTGGGAGGATGAGTCGGAGCTCATATAACTTGGTTCCAAGGTGTGACCTGTGTTTTAATAACTGTCTTAGAAATGAGGATTAAAATCCAAAGGTGTGAGTTGCAATGCTGGAGTTGACCACTTCTCTTGATTTACTTAAGATTACAGAGAAAATGATCAGAAATGCTGTTATCATTCCGTTTTCATCAGTGGAAACCTTCAATTAAAGAAGAATTATGTGTTTGTCCCAAAAAAAGATAAGCTGTGAGATATGTATGTCAAATATGCAAAATCAGACAATGATCATGTTTCTCAAGGGAACTAAAGTGGGAATAAATAATGCCATTATTAACAAGTATATGTGCAGGAATTGTTGAGCACTATTGGTAAGCTAGCCAAAGTATGTACTATTATTTTTGACCCTAGAAAGGATTGCATAATGGTAATGAATGGGAGTGAGTCCTTAGTCTCTAGAGAGTTATAGTTTTATAGGCAAGAAAATATATTAGGTTCTTTCAGGATAAAGAACACAGATACACATTTGAGTTTTCTTAATTAGGAGAAATATACCTGGACAAGTAAGGGAGACAAACCATCTGCCCCTCCAGGCCTCATGTGCTGCAACATCATTTGTAACTTATCTGTAGCTTTAGCAGTTTCCCAGCAGCTACATTAGTCATCACAGACGCTTATGTTAGTTTTTTTCCTGACACAGGCTCTCTCTTTAGATCTCAAATTGGTTTGGCTGGCTATTACCTAGTACAGGGCACCCTTACTGGCTGCATCTTTCACATTAAGCCACCTGTGTGGCAATTTTTAGGTCATGTGTGTATCTCTGCTCCAGCCAGCTCTGTGCAGGCCTTATTGTACTATTCAAAGTTTGGTAATCCATGCATGAAGTCAGACAAACTGAATGGCACCCATTCAGTATAAAATAGTTATTATATAATCTGTTAAGTGTGTTCTACAATGGAGATATGTTCAGCGTGCTATGCATTCTGAAAAGATAGTAATTTAGTCTACTGGGGCAGGCATCCATTCTCAGAGAAACGATGTA
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CTCCAGAACTCTTCATCTTGCAAAACTGAAATGGTACCCATTCAACACACTCCCCGTTCTACCCTCCCCCTGACCCTGGGCAATCAGCATTCTACTTTCTGTCTCTGTGAACTACTCTAGATGCTTGATATAGGTGGAATCATACAGTACTTGTCCTTTTGTGACTGGCATATTTCACTTAACAGAATGCCCTCAAGGTTCATCCATGTTGCAGCATGTGTCAGAATTTCCTTCCTTTTTGAAGTTGGAAATGCATCTGCTCAAGACCCTGCTTTCCATTTTTTTATATATATACAAAAATGGTATATATGGAATTGCTGGGTCTTGTGGTAATTTTTTTTCATTTTTTGAGGAACCACCATACTGCCTTCCTTAGCAGCTGCACCATTTTACATTCCCACCAAAAGTGCACAAGAGTTCCAGTTGTTCTACATCCTTGCCAACACCTGTTATTTTCTGATATGTTTTATAATAATTTTAATGAGTGTGAAGTGGTATCTCCTTGTAGTTTTGATTTGCATTTCCCTAATGATTAGTGATGCTGAGCATCTTTTTTGTGTGCTTATTGGCCATTTGTATATCTTTGGAGAAATGTCTGTTCAAGTCCGTTATTTTTTAATTAGGTTGTTTGGGGCTTTTTTTGTTGAGTTGTAGGAATTGTTTCTACATCCTGGATATTCACCCCTTATCAGACAGATGATTTGCAAATATTATCTTCCATTTCATGGGTTACCTTTTCACTCTGTTGATTGTGTTATTTGATGCATGGAAGTTTTTAATTGATGTAGTCCAATTGATCTATTTGTTTCTTTGGTTCCCTGGTTCCCTGTGCTTTTGGTATCAGATCGAAGAAATCATTGCCAAATCCGAGGTCATGAAGCTTTTCCCTTATGTTTTATCCTAAGAGTTTTATGGTTTCAGGTCTTACATTAAGATCTTTGGTTTTTTGAGTTAATTTTTGTATATGGTGTAAGTTAAGGGTCCAACTTCATGTCTAACATTAATTTTAATAGCCATATAATATTCAGCAGTGTGGATATTTCATAATTTAGTAGTTTTGCTGTTATAAACAATGTCATAATACATTTTTATATTGGTGCTTTTATTCCTGTAAGATCGATTCCTAAAAGTGGGATTGCTAAGGCATATAAGTTGTTTATCCACTCCCTTTTAGGGTAGCCAGGAAAGCCAGGATTCAAGTATACACGTTTGTTAATAAATGCAGTGAATGGTAAGGTTAAAACTGCCAAGAACTTAAGCACTTTAAAAGCATTTTCATCTGAACAAACTTGTGAGGAAGTTATTTGAAAACTAGGGGAAATGAAGAGAAAGACTATTTTAAAACTGCTGGTAGCAATCTTCCTTTCTTACAAGATTTGCCTTATTTAATCTCTTCCAACAAAAGTAGGTTGATGTTTTTTCCTGGTAGGCAAAAGATGAGAGCGGGTTTGGCCTGGCTGTCCAGAGCATGAAGGGCACATATTGGTCTGTTGTCAGGCTCAGCAGCATGGCTGACTAAAGACATTGACATCATGACATTGTCATGTTGCTCTGCTGTTGCCCCTGGCTCTAGCTGGCCTACTTGTAAAGGGAGTGGTGCATGGAGAAGCACAAGGTAACCTCCCAGTGAGCACCTGGCCCACAGAATCCCTTCTTTTCTATAATTCTATTAGGTATCTCTTATGTATTTTAATGTCAAAGTATAATAATATCATAGGGGTGTCTTACATTTATGAAATCTTTCTTAATAATGTTTGAGTTTAGGCCAGGCACAGTGGCTTATGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGAGGACTGCTTGAGGCCAGGAAGTTTGTGACCAACCTAGCCAACATAGCGAGACCCTGTCTCATAAAATAAAATAATAAAATATAAATGAAAAATAAGCATGTTTAAGTTTAGATCTTTATAGAAGATTTCAAGATCTGCAAATAAATATTATCCCCTCTTTTTTAGACTTCCTGGGAATGAAAATGGTTGGTGAGCTGCTACGAATGTCGGGTGCCTTTTTCATGCGGCATACCTTTGGTGGCAATAAACTCTACTGGGCTGTATTCTCTGAATATGTAAAAACTATGTTACGGGTAAATGCAAATAATTCCCAACTACTCTTAAGCCATATTTTCTTCACTGATGTTTGCTCATTTAAACTCTTAACTTCTGAATAGAACACTTAGCTATTTTGCTTTCCCTCAAGAACTGCTTATAACCTCAGCAATTGGTTTAATCTGTGTGACTCTCTTGTTTAATTTTCACTGTAAGCTGTGTTTGTTCAGGAAGCTTGGGAGGGAGCTTGGGAAAAGGAATCAAAAGAAGCATTTATCATTTTGAGAGTAGGCAATGGGTTTTGTGTTTTGTTTGTTTTCTCTTTAAAGAATGGTTATGCTCCTGTTGAATTTTTCCTCGAAGGGACAAGAAGCCGCTCTGCCAAGACATTGACTCCTAAATTTGGTAGGTCACTACAGATTAAAAGGAAAAATACAAACCCAAAGACATCAGCTGCTACATAAAACTTGACGCTTTATTTAACAAGATATTCTTTTCAAGTGTAAATGTATAACTGTTGATATTTACGGGATTAGTGTATAATGTATGCTTTTAGTATTTTCCGTTTATGTGCTCATGTTTGCTCTGCTCTTCAATATGTTGATGAAGCATTTCTCCCTGTGTTTTGCAGGTCTTCTGAATATTGTGATGGAGCCATTTTTTAAAAGAGAAGTTTTTGATACCTACCTTGTCCCAATTAGTATCAGTTATGATAAGATCTTGGAAGAAACTCTTTATGTGTATGAGCTTCTAGGGGTTCCTAAACCAAAAGAGTCTACAACTGTACGTGAGCTTGATTTTAGCTTAATTGAGAGAATGTGCTGACTGACACATCAACTAATTTCTAAATTTACTGCTTTTCGTTTTCTTCCCCCCCTGTTATGGTACTATTAGGGGTTGCTGAAAGCCAGAAAGATTCTCTCTGAAAATTTTGGAAGCATCCATGTGTACTTTGGAGATCCTGTGTCACTTCGATCTTTGGCAGCTGGGAGGATGAGTCGGAGCTCATATAACTTGGTTCCAAGGTGTGACCTGTGTTTTAATAACTGTCTTAGAAATGAGGATTAAAATCCAAAGGTGTGAGTTGCAATGCTGGAGTTGACCACTTCTCTTGATTTACTTAAGATTACAGAGAAAATGATCAGAAATGCTGTTATCATTCCGTTTTCATCAGTGGAAACCTTCAATTAAAGAAGAATTATGTGTTTGTCCCAAAAAAAGATAAGCTGTGAGATATGTATGTCAAATATGCAAAATCAGACAATGATCATGTTTCTCAAGGGAACTAAAGTGGGAATAAATAATGCCATTATTAACAAGTATATGTGCAGGAATTGTTGAGCACTATTGGTAAGCTAGCCAAAGTATGTACTATTATTTTTGACCCTAGAAAGGATTGCATAATGGTAATGAATGGGAGTGAGTCCTTAGTCTCTAGAGAGTTATAGTTTTATAGGCAAGAAAATATATTAGGTTCTTTCAGGATAAAGAACACAGATACACATTTGAGTTTTCTTAATTAGGAGAAATATACCTGGACAAGTAAGGGAGACAAACCATCTGCCCCTCCAGGCCTCATGTGCTGCAACATCATTTGTAACTTATCTGTAGCTTTAGCAGTTTCCCAGCAGCTACATTAGTCATCACAGACGCTTATGTTAGTTTTTTTCCTGACACAGGCTCTCTCTTTAGATCTCAAATTGGTTTGGCTGGCTATTACCTAGTACAGGGCACCCTTACTGGCTGCATCTTTCACATTAAGCCACCTGTGTGGCAATTTTTAGGTCATGTGTGTATCTCTGCTCCAGCCAGCTCTGTGCAGGCCTTATTGTACTATTCAAAGTTTGGTAATCCATGCATGAAGTCAGACAAACTGAATGGCACCCATTCAGTATAAAATAGTTATTATATAATCTGTTAAGTGTGTTCTACAATGGAGATATGTTCAGCGTGCTATGCATTCTGAAAAGATAGTAATTTAGTCTACTGGGGCAGGCATCCATTCTCAGAGAAACGATGTA
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Task1_train_2876
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This is a variant in SPRTN (SprT-like N-terminal domain), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Progeroid features-hepatocellular carcinoma predisposition syndrome
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TTGATAAGCAATAAATAACATCCTAGTGTAGTGTTGGGTTTTTGTGGGGGTTTTTTGTTTTTTGAGACAGGGTCTTGCTGGGTTGTCCAGGCTGGAGGTAATCATAGCTCACTGCAACCTTGAATTCATGGCCTCAAGTGATCCTCCCATCTCCGCCTCCTGAGTAGCTAGGACTACAGATGCACAAGCTAATTGTTTTATTTTTATTTTTATTTTTTTGTAGAGACAAGGTCTCACTATGTTGACCAGGCTGGTTTTGAACTCCTGGCCTCGAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGACCATCCTAGTGTAGTATTAATTCGCATTTCTCTTTTTATAAATAAAGTTGGGCATTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTCATCAGGCTGGAGTGCAGTGGTGCATTCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTCCTGAGTATACTGCTCGGACTACAGGCGGGCGCAACTATGCCCAGCCAAAATTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGAGCAGGATGGTCTCAATGTCCTGACCTCGTGATCCGGAAGTTGGGCGTTTTTTCATTTGTTTGTGGGTCATTTATACTTCTTCTGTGAACTCCATGGTCTTTGCCCATTTTGAAATTGGGTTGTCATTCCCTGTTGACATTAGGAGCTCCTTGTATATTAGGAATAGCCTGTGATAAGAGTTATACATATATTTTTCTGAGTTTGTCTTTTTACTTGGTGTTTTTTTCCTATAGAATTTTAAAGTTTTGTCTGGGTGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATTGCTTGAGGTCAGGAGTTTAAGACCATCCTTGCCAATATGGCCAAACCCCATCTCTACTAAAATACAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAGTGCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGGACCGAGGAGGCAGAGCTTGCAGTGAGGAGAGATTGAGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACCCTGTCTCAAAAAAAAAAGAATTTTAAAGTTTTTATGTAGTTGAATTCATTGATTTTTCTGGATTTTGATATATAGTCAAAAAGGTCTTCCTAGAACAGGGAGTTCTTAACCTGTGATTTTCAGAGCTTTAGATGTTACACAAATTTGAGTACCCCTTCTCTGAAATGCCTGGGACTAGAAGTGTCTTGGATTTCAGATTTATTTGGATTTTGGAATATTTGTGTTATTCTTACAGGTGGAGCATCCCAAATCTGAAAATCCGCAATGCTCCAATGAGCATTTCCTTTTGAGTGTCATGTCATTGCTCAAGAGTTTCTGATTTTGGAGCATTTTGGATTTTCAGAGTTGGGATGCTCAACTCATATGCAATATTTTGTGAATGAGTGCTTATATAATTTTTATAGAATGAGGTGGGTTTTTTGTTGTTGTTGTTTTGTTTTTGTGAGACAGTGTCTCATTCTGTCCCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCGTCAACCTCCCCAGGCTCAGAGGATCCTCCCACCTCAGCCTCCTGAGTGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGTTGGTCTCCAACCCCTGGGCTCAAGTGACCCTCCCACCTTTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTAGAATGAGTTTTATCAGTTCTGAAGGAAGCCTGTGATACAGAAAAGGTTAGACACCAGATAGAATAAGAAAATTTATATTTTCCAAAGTGTCATACAGACTCTAAAACTAATTTGAATATTTTATGTTCCAGACCCTCCTGCATGAAATGATACATGCCTATTTATTTGTCACTAATAACGACAAAGACCGAGAAGGGCATGGTCCAGAATTTTGTAAACATATGCATCGCATCAACAGCCTGACTGGAGCCAATATAACGGTATAGAAAGCCATATCTATTTATGATGTTTAGTAGTTGTTTATTCAATAACTCCTGAGATTTAATTAAAAGTAGAGAACTAGGTAGAAACAAGTATCTTTGAGGATTTTCCACAGCGAACGAGAGGCCTAGAGAAGCAAATTGGCTTGTCTGGGACTACATGGTGGAATGGCAGCAGAGCCAGTGATATCCCTGAGGCCTCTGACCTCTTCTGAGTCAACATTTTACACACAGGTAATTCAGGCCTGCAGTACGTCACTTCTGGAATCATCATGATCTCTTAACTTTGTTTCCTTATTATTGTCTTTTTTAGTCCATCCTGTATCCTGCTACCATTGCAGATGTCATTCCCTCATCAGAATTCTTCTTTGATTCATATCTCTGTATAGCATTGTAGGAGATAGCAAAGCCTCAGGTTCAAAAAGCTGGAGGCGTCAGGCTGCTTGGATTCAAATCCTGGCTCCACCAATTATTAACTTTCCTATGCCTCATTTTATACCCATGGCAAATGAGAGTAGTAACAATACCTATCTGTTGGATCCTTGTGAGGAGAAAGGATTAAAGGAGAAAGCACATCAAAACATTTTAGCCCAATCTGACACTAATTAAATATTAGTTTTATTGTATTCATTTTATTAAATAACCTTGTTCCTTTTTTACTGCCTCCAACTCTGCTGCCTGTGTCCTGTCTCTTTAACTGCACTTTTGACCTCCCTGCCTTTCCTCAGGTGTAGCTTCCCTGAGGCGTGCCACTGCTCTGTTTTGTGTCCGAATGCTTTTCATCGTTCCAGTGGCATCTCATTTCTCCCTCTTTTGAATCCTCAGCAGATATTTAAGCTATTACAATTTTTTATGCTACTTTCATACTTTTGAACGCAGGGTAGGTCTTGCCCATCTTTATAGTACATCTGTATAAGGTGTATAATGTACTGAATTGAATATTAATAGGATAGATTAAATTCTTTCTTATGTTTGGGTATTTCCTTCCTTTAAAAGGCAACAAAATCCACTGTGATAGAAAATGAACAGTGCTCAACCGCCATGTTTTGTTTATTTATTTATTTAAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGATGCAGTGGTGCATTCATAGCCCACTGCAGATTCAACCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGGCTACAGATGTGTGCCACCATGTCAAGCTAATTTAAAAAAAAATTTTTTTTTTTAGAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCATGGGTTCAAGTGATCCTCCCATCTCAGCCTCCCAAAGTGGTGGGATTATAGACATGAGCTACCATGCCTGGCCTCTCCATGTATTACTATTTTCTAGCTATCAGTTTTAATTTTCTAAAGACTTCATTTCATTATTAGACACAGTTACTTCAACATTAGGAAAGTGTCTTGCAGTTTTTAAAAAAATCAGACATAAAATCCGGGTTAGCAAGAGAATTATAGACTTGCTTGTATAAAATACATTAAGTTTCTTAACCAGAACTTATACTTTAAGCAAAGCCCTTGTATACGTCCCATTGTTCAGCTGGAAGAGTATCTGTTCTTTTATCTTAGATATCTGTGTGTTTTTATTTAGGAGAGGTTGTAAGGAGTGAACACTCCTTGCTTTTACAGGTTACATCCTGTTATAAGGAACTCTGCAGGGTATCTACATTGTAGAGTAATTTTATTTTAGTGACTACATTGTTAAAAGTCACATTCCCAAGCGTTAGGAGTTACAGGAATTGGAAGCAGAACAGATCCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGAGGGTAACTTGAGCCCAGGTGTTTGAGATCAGCCTGGGCAATTTAGTGAGACCTTGTTTCCACAAAAAAAATTCAAAAATTAGCTAATC
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TTGATAAGCAATAAATAACATCCTAGTGTAGTGTTGGGTTTTTGTGGGGGTTTTTTGTTTTTTGAGACAGGGTCTTGCTGGGTTGTCCAGGCTGGAGGTAATCATAGCTCACTGCAACCTTGAATTCATGGCCTCAAGTGATCCTCCCATCTCCGCCTCCTGAGTAGCTAGGACTACAGATGCACAAGCTAATTGTTTTATTTTTATTTTTATTTTTTTGTAGAGACAAGGTCTCACTATGTTGACCAGGCTGGTTTTGAACTCCTGGCCTCGAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCACGCCTGACCATCCTAGTGTAGTATTAATTCGCATTTCTCTTTTTATAAATAAAGTTGGGCATTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGGTCTGTCATCAGGCTGGAGTGCAGTGGTGCATTCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCCCCTGCCTCAGCCTCCTGAGTATACTGCTCGGACTACAGGCGGGCGCAACTATGCCCAGCCAAAATTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACAGGGTTTCACCATGTTGAGCAGGATGGTCTCAATGTCCTGACCTCGTGATCCGGAAGTTGGGCGTTTTTTCATTTGTTTGTGGGTCATTTATACTTCTTCTGTGAACTCCATGGTCTTTGCCCATTTTGAAATTGGGTTGTCATTCCCTGTTGACATTAGGAGCTCCTTGTATATTAGGAATAGCCTGTGATAAGAGTTATACATATATTTTTCTGAGTTTGTCTTTTTACTTGGTGTTTTTTTCCTATAGAATTTTAAAGTTTTGTCTGGGTGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATTGCTTGAGGTCAGGAGTTTAAGACCATCCTTGCCAATATGGCCAAACCCCATCTCTACTAAAATACAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAGTGCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACTTGGACCGAGGAGGCAGAGCTTGCAGTGAGGAGAGATTGAGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACCCTGTCTCAAAAAAAAAAGAATTTTAAAGTTTTTATGTAGTTGAATTCATTGATTTTTCTGGATTTTGATATATAGTCAAAAAGGTCTTCCTAGAACAGGGAGTTCTTAACCTGTGATTTTCAGAGCTTTAGATGTTACACAAATTTGAGTACCCCTTCTCTGAAATGCCTGGGACTAGAAGTGTCTTGGATTTCAGATTTATTTGGATTTTGGAATATTTGTGTTATTCTTACAGGTGGAGCATCCCAAATCTGAAAATCCGCAATGCTCCAATGAGCATTTCCTTTTGAGTGTCATGTCATTGCTCAAGAGTTTCTGATTTTGGAGCATTTTGGATTTTCAGAGTTGGGATGCTCAACTCATATGCAATATTTTGTGAATGAGTGCTTATATAATTTTTATAGAATGAGGTGGGTTTTTTGTTGTTGTTGTTTTGTTTTTGTGAGACAGTGTCTCATTCTGTCCCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACTGCAGCGTCAACCTCCCCAGGCTCAGAGGATCCTCCCACCTCAGCCTCCTGAGTGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTTTGTAGAGACAGGGTTTCGCCATGTTGCCCAGGTTGGTCTCCAACCCCTGGGCTCAAGTGACCCTCCCACCTTTGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACTGCACCCGGCCTAGAATGAGTTTTATCAGTTCTGAAGGAAGCCTGTGATACAGAAAAGGTTAGACACCAGATAGAATAAGAAAATTTATATTTTCCAAAGTGTCATACAGACTCTAAAACTAATTTGAATATTTTATGTTCCAGACCCTCCTGCATGAAATGATACATGCCTGTTTATTTGTCACTAATAACGACAAAGACCGAGAAGGGCATGGTCCAGAATTTTGTAAACATATGCATCGCATCAACAGCCTGACTGGAGCCAATATAACGGTATAGAAAGCCATATCTATTTATGATGTTTAGTAGTTGTTTATTCAATAACTCCTGAGATTTAATTAAAAGTAGAGAACTAGGTAGAAACAAGTATCTTTGAGGATTTTCCACAGCGAACGAGAGGCCTAGAGAAGCAAATTGGCTTGTCTGGGACTACATGGTGGAATGGCAGCAGAGCCAGTGATATCCCTGAGGCCTCTGACCTCTTCTGAGTCAACATTTTACACACAGGTAATTCAGGCCTGCAGTACGTCACTTCTGGAATCATCATGATCTCTTAACTTTGTTTCCTTATTATTGTCTTTTTTAGTCCATCCTGTATCCTGCTACCATTGCAGATGTCATTCCCTCATCAGAATTCTTCTTTGATTCATATCTCTGTATAGCATTGTAGGAGATAGCAAAGCCTCAGGTTCAAAAAGCTGGAGGCGTCAGGCTGCTTGGATTCAAATCCTGGCTCCACCAATTATTAACTTTCCTATGCCTCATTTTATACCCATGGCAAATGAGAGTAGTAACAATACCTATCTGTTGGATCCTTGTGAGGAGAAAGGATTAAAGGAGAAAGCACATCAAAACATTTTAGCCCAATCTGACACTAATTAAATATTAGTTTTATTGTATTCATTTTATTAAATAACCTTGTTCCTTTTTTACTGCCTCCAACTCTGCTGCCTGTGTCCTGTCTCTTTAACTGCACTTTTGACCTCCCTGCCTTTCCTCAGGTGTAGCTTCCCTGAGGCGTGCCACTGCTCTGTTTTGTGTCCGAATGCTTTTCATCGTTCCAGTGGCATCTCATTTCTCCCTCTTTTGAATCCTCAGCAGATATTTAAGCTATTACAATTTTTTATGCTACTTTCATACTTTTGAACGCAGGGTAGGTCTTGCCCATCTTTATAGTACATCTGTATAAGGTGTATAATGTACTGAATTGAATATTAATAGGATAGATTAAATTCTTTCTTATGTTTGGGTATTTCCTTCCTTTAAAAGGCAACAAAATCCACTGTGATAGAAAATGAACAGTGCTCAACCGCCATGTTTTGTTTATTTATTTATTTAAGATAGGGTCTTGCTCTGTTGCCCAGGCTGGATGCAGTGGTGCATTCATAGCCCACTGCAGATTCAACCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGGCTACAGATGTGTGCCACCATGTCAAGCTAATTTAAAAAAAAATTTTTTTTTTTAGAGACAGGGTCTCACCATGTTGCCCAGGCTGGTCTTGAACTCATGGGTTCAAGTGATCCTCCCATCTCAGCCTCCCAAAGTGGTGGGATTATAGACATGAGCTACCATGCCTGGCCTCTCCATGTATTACTATTTTCTAGCTATCAGTTTTAATTTTCTAAAGACTTCATTTCATTATTAGACACAGTTACTTCAACATTAGGAAAGTGTCTTGCAGTTTTTAAAAAAATCAGACATAAAATCCGGGTTAGCAAGAGAATTATAGACTTGCTTGTATAAAATACATTAAGTTTCTTAACCAGAACTTATACTTTAAGCAAAGCCCTTGTATACGTCCCATTGTTCAGCTGGAAGAGTATCTGTTCTTTTATCTTAGATATCTGTGTGTTTTTATTTAGGAGAGGTTGTAAGGAGTGAACACTCCTTGCTTTTACAGGTTACATCCTGTTATAAGGAACTCTGCAGGGTATCTACATTGTAGAGTAATTTTATTTTAGTGACTACATTGTTAAAAGTCACATTCCCAAGCGTTAGGAGTTACAGGAATTGGAAGCAGAACAGATCCAGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGAGGGTAACTTGAGCCCAGGTGTTTGAGATCAGCCTGGGCAATTTAGTGAGACCTTGTTTCCACAAAAAAAATTCAAAAATTAGCTAATC
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Task1_train_2877
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This gene mutation involves EGLN1 (egl-9 family hypoxia inducible factor 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Erythrocytosis, familial, 3
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AATACTACAAAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTTCCAGACCAGACTCTGCTCTTTCCAGAGTTCCACTACCTTTCTTACCATGTGGCTTCTTCTACTTTTGGGTGGCCTTGGAAATAGGAAAGGGCTCAGATACATAATTTTATGTATCTTTTGCCCATGCCCTAAACTTTTAGTCACTTAGCAATCAGAATTCTAATATCTGGATCAACAACTTACCTTATGTCATTCTAACTTTCCAGCCTTATCACCCATTCTAGATAAGATCAGAATAGGATTCTACTTCAAGAATCCTTTTCGTCGCATGATTTTCCATGCCTTAACTTGAACAACTACGCCTTTTCCCCCAGAACTTTACTAACACGACTGCACCCCTTGCCTCTCCTCACCTAGGCCAGCTGAGCCTCTCCCTTCAAAGCGCACTTGCCCGTCTCTCCAATGTAGCACCACCTTCGTTCCTCAACTCCTGTAGCACTTAGCCTCCATGCCATCTGGCATTTATTTACTATAAACTCCCAAGTATCTGTTATTTATTCATCTAAAAAGGACGTAACCAAACCAAACTCAGGATTTCATAAAAAGGAAGGTCTATGAGGCAGTTACTGTGTCAGAAAATCTTTACAGAAGCAGCAGGGGGCAGAGACAGCACTGGGATGCCACTGGGAAGAGACATGGGATTGAAAAGGGCACATCATGTGATGTGACAGTCTTTCTTTGGTTTCCATTCAGGATTTCTTACAATCTCCAGCTACAACCTGCTTAGCTTGCTACTCAGTACGTGAATTAGGATGCAGGCAACACACCTCAGAAGGCAGGAAGAAAAAAGGCACAGCTGATAATCAAGTCGTTAGAGTCAACCATCATTACTAAAGCCAACTCTCCACCCAGCGCATCTAAGCCTGTGCCTCTTCTTGCCACCCTAGCATCTCCTAAGCCAGATACAGCAAATGAATGCCGGAAGCTCACTATCAGAATGTTCCAAGACCTTTCCATAATAAAAAATAAGTATTTTTTTTTAATGTGCTATTTTTCTACAAATATTTACTTTCATGATAATGTCTACAATATCTTGTTTTCACAGCCAGAGCATTTTAATTGAGTCAGGATAAATGGTTTTTAAAAAAGCATTTGAAATAAAGCACTAAATATAATAGGTTGCAAATACCTTGTAGAAAAAGTATAATGAAACAGATGCTCATTATTTGTAAAGCTAATAGGATCATTTTTCTAACATTAACTCCCACACATGGTAACCTGTTCTCTACTTTTCTTTCTTCTGTTTTTCTCTTCACTTCTACTCTCTGGTTACCTCTGATTTTTCTACTCTGTATCCATTTTCCTATGTTGTCCCTCACCACCTTTTAAAAAACCCTTTTCCTTCTTGATCTTTCTCTCTCCCAAGTAAAATACTCTTACAAAAATCAAAGCATGGATAGTAGTTAAGAGATGCACAAAGCACGGAGAGAGTGCTAGAAAGATGGGAAGGCCTGTGCTTCCCTTTCTTCAGAGTGGCTGTGCAAAGAAAGACACATTTAGTACTAACTGTTAATGAGTCTTATATAATTATTTGAATTCAGATGACTGTGCAACATAAATCTTATACAATTATTCAAATTAAAATGACTGTGAAAAGTACCTGGCAGGAAAATACTCATTAGAAAGCTTTCACGTTTACTCTACAGATTCCCTCCTGTCCTACCATACTCTAAACCAATTTTTTCTGAAAAGGAATACTACCTTGTAGCATATGCTGGTTGTACTTCATGAGGGTTGCGACGGTCAGACCAGAAAAACAGCAGTCTATCAAATTTGGGTTCAATGTCAGCAAACTGGGCTTTGCCTTCTGGAAAAATTCGAAGTATACCTCCACTTACCTAGGAAAAGAGCCAAATATGTAAGCAGGAGTAACCAAAAATGCTACAAGATTAAATTTAGGGGGAAAAAAAGAGACAATTTCAATGTCTTAATTGGATTATTCACAAATACGTCTCAATAAAGTATGAAGATGAGCTGCAATTTTAAAAGTATATGCACTGATGCAAGGACAAATTTAGTTCTTATTTTAGGGATATTTATTTATTTATTGAGATGGAGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGTCTCAGCATCGCGAGTAGCTGGGATTACAGGCATGCGCCACCATGTCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACTGTCCCCAGCCATTTTAGGGATTTTTATAAATATCTGATGAAACACAAGAATGTTATCTGAATTTAAAAGTCTTAAAATGATGCTTGAAAGCTTTTAAAACTACTAAACGTTTATTTTTGTATGTTAATGATTTGCTTAACCCACCCTTCAAATAGATAGATTTCAAGAAATTTTGACAAAATTATTATTAGAAATAAATTATGTCAAATAGTTTACCATACTTTAAAATTCAATAAACAATAGGATAGTCACAAATACCTCTTACTTAAATAATTCAGTATATCAGTAGAAAGTGTCATCATTTATTATGACCATCATTATTGTCGTCGTCACCATCACCATCAGCATATAGTTCATTAGAACCTGTGGCTCTCCCTTTCCAGACTGGGCCTGATGCACAGATGACTACCTGCTTGTGAAACTTGATTCTACCCATAAAGGATTATTATTTACCTAAACACCAACTAGGCATCAAATCGCACTGGGAACTGTGGTGGGCTCTGGGTGCAGAGTAGGGAATAATGCAGACAGACTTTGTCCTTGCGGGGTTTACGATCTGGGGATAGGCAAAACCCAACCAACCAAGTAGCTCCTTACTCTTGAATAACTACACTCCTAAGCAGGTAGACTCTTAAAATTTAAAGAAACTCTAACACCTGGTCAGGACAACATGGCGTTTGAGCCTAAACCTAGAATCTATAGTTAAAGAAAAGGTTTATCAGGCTCACTGTCAGGTAAGTTAAATTCTAGCTACTTTGATACCCTTGCCAACCTTCCTCAGGTTCCAGTGTTGTTCAGAGTGATTCCCCAGGCTACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACT
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AATACTACAAAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTTCCAGACCAGACTCTGCTCTTTCCAGAGTTCCACTACCTTTCTTACCATGTGGCTTCTTCTACTTTTGGGTGGCCTTGGAAATAGGAAAGGGCTCAGATACATAATTTTATGTATCTTTTGCCCATGCCCTAAACTTTTAGTCACTTAGCAATCAGAATTCTAATATCTGGATCAACAACTTACCTTATGTCATTCTAACTTTCCAGCCTTATCACCCATTCTAGATAAGATCAGAATAGGATTCTACTTCAAGAATCCTTTTCGTCGCATGATTTTCCATGCCTTAACTTGAACAACTACGCCTTTTCCCCCAGAACTTTACTAACACGACTGCACCCCTTGCCTCTCCTCACCTAGGCCAGCTGAGCCTCTCCCTTCAAAGCGCACTTGCCCGTCTCTCCAATGTAGCACCACCTTCGTTCCTCAACTCCTGTAGCACTTAGCCTCCATGCCATCTGGCATTTATTTACTATAAACTCCCAAGTATCTGTTATTTATTCATCTAAAAAGGACGTAACCAAACCAAACTCAGGATTTCATAAAAAGGAAGGTCTATGAGGCAGTTACTGTGTCAGAAAATCTTTACAGAAGCAGCAGGGGGCAGAGACAGCACTGGGATGCCACTGGGAAGAGACATGGGATTGAAAAGGGCACATCATGTGATGTGACAGTCTTTCTTTGGTTTCCATTCAGGATTTCTTACAATCTCCAGCTACAACCTGCTTAGCTTGCTACTCAGTACGTGAATTAGGATGCAGGCAACACACCTCAGAAGGCAGGAAGAAAAAAGGCACAGCTGATAATCAAGTCGTTAGAGTCAACCATCATTACTAAAGCCAACTCTCCACCCAGCGCATCTAAGCCTGTGCCTCTTCTTGCCACCCTAGCATCTCCTAAGCCAGATACAGCAAATGAATGCCGGAAGCTCACTATCAGAATGTTCCAAGACCTTTCCATAATAAAAAATAAGTATTTTTTTTTAATGTGCTATTTTTCTACAAATATTTACTTTCATGATAATGTCTACAATATCTTGTTTTCACAGCCAGAGCATTTTAATTGAGTCAGGATAAATGGTTTTTAAAAAAGCATTTGAAATAAAGCACTAAATATAATAGGTTGCAAATACCTTGTAGAAAAAGTATAATGAAACAGATGCTCATTATTTGTAAAGCTAATAGGATCATTTTTCTAACATTAACTCCCACACATGGTAACCTGTTCTCTACTTTTCTTTCTTCTGTTTTTCTCTTCACTTCTACTCTCTGGTTACCTCTGATTTTTCTACTCTGTATCCATTTTCCTATGTTGTCCCTCACCACCTTTTAAAAAACCCTTTTCCTTCTTGATCTTTCTCTCTCCCAAGTAAAATACTCTTACAAAAATCAAAGCATGGATAGTAGTTAAGAGATGCACAAAGCACGGAGAGAGTGCTAGAAAGATGGGAAGGCCTGTGCTTCCCTTTCTTCAGAGTGGCTGTGCAAAGAAAGACACATTTAGTACTAACTGTTAATGAGTCTTATATAATTATTTGAATTCAGATGACTGTGCAACATAAATCTTATACAATTATTCAAATTAAAATGACTGTGAAAAGTACCTGGCAGGAAAATACTCATTAGAAAGCTTTCACGTTTACTCTACAGATTCCCTCCTGTCCTACCATACTCTAAACCAATTTTTTCTGAAAAGGAATACTACCTTGTAGCATATGCTGGTTGTACTTCACGAGGGTTGCGACGGTCAGACCAGAAAAACAGCAGTCTATCAAATTTGGGTTCAATGTCAGCAAACTGGGCTTTGCCTTCTGGAAAAATTCGAAGTATACCTCCACTTACCTAGGAAAAGAGCCAAATATGTAAGCAGGAGTAACCAAAAATGCTACAAGATTAAATTTAGGGGGAAAAAAAGAGACAATTTCAATGTCTTAATTGGATTATTCACAAATACGTCTCAATAAAGTATGAAGATGAGCTGCAATTTTAAAAGTATATGCACTGATGCAAGGACAAATTTAGTTCTTATTTTAGGGATATTTATTTATTTATTGAGATGGAGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGTCTCAGCATCGCGAGTAGCTGGGATTACAGGCATGCGCCACCATGTCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACTGTCCCCAGCCATTTTAGGGATTTTTATAAATATCTGATGAAACACAAGAATGTTATCTGAATTTAAAAGTCTTAAAATGATGCTTGAAAGCTTTTAAAACTACTAAACGTTTATTTTTGTATGTTAATGATTTGCTTAACCCACCCTTCAAATAGATAGATTTCAAGAAATTTTGACAAAATTATTATTAGAAATAAATTATGTCAAATAGTTTACCATACTTTAAAATTCAATAAACAATAGGATAGTCACAAATACCTCTTACTTAAATAATTCAGTATATCAGTAGAAAGTGTCATCATTTATTATGACCATCATTATTGTCGTCGTCACCATCACCATCAGCATATAGTTCATTAGAACCTGTGGCTCTCCCTTTCCAGACTGGGCCTGATGCACAGATGACTACCTGCTTGTGAAACTTGATTCTACCCATAAAGGATTATTATTTACCTAAACACCAACTAGGCATCAAATCGCACTGGGAACTGTGGTGGGCTCTGGGTGCAGAGTAGGGAATAATGCAGACAGACTTTGTCCTTGCGGGGTTTACGATCTGGGGATAGGCAAAACCCAACCAACCAAGTAGCTCCTTACTCTTGAATAACTACACTCCTAAGCAGGTAGACTCTTAAAATTTAAAGAAACTCTAACACCTGGTCAGGACAACATGGCGTTTGAGCCTAAACCTAGAATCTATAGTTAAAGAAAAGGTTTATCAGGCTCACTGTCAGGTAAGTTAAATTCTAGCTACTTTGATACCCTTGCCAACCTTCCTCAGGTTCCAGTGTTGTTCAGAGTGATTCCCCAGGCTACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACT
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Task1_train_2878
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A change on Chromosome 1 affects gene EGLN1 (egl-9 family hypoxia inducible factor 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Erythrocytosis, familial, 3
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AAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTTCCAGACCAGACTCTGCTCTTTCCAGAGTTCCACTACCTTTCTTACCATGTGGCTTCTTCTACTTTTGGGTGGCCTTGGAAATAGGAAAGGGCTCAGATACATAATTTTATGTATCTTTTGCCCATGCCCTAAACTTTTAGTCACTTAGCAATCAGAATTCTAATATCTGGATCAACAACTTACCTTATGTCATTCTAACTTTCCAGCCTTATCACCCATTCTAGATAAGATCAGAATAGGATTCTACTTCAAGAATCCTTTTCGTCGCATGATTTTCCATGCCTTAACTTGAACAACTACGCCTTTTCCCCCAGAACTTTACTAACACGACTGCACCCCTTGCCTCTCCTCACCTAGGCCAGCTGAGCCTCTCCCTTCAAAGCGCACTTGCCCGTCTCTCCAATGTAGCACCACCTTCGTTCCTCAACTCCTGTAGCACTTAGCCTCCATGCCATCTGGCATTTATTTACTATAAACTCCCAAGTATCTGTTATTTATTCATCTAAAAAGGACGTAACCAAACCAAACTCAGGATTTCATAAAAAGGAAGGTCTATGAGGCAGTTACTGTGTCAGAAAATCTTTACAGAAGCAGCAGGGGGCAGAGACAGCACTGGGATGCCACTGGGAAGAGACATGGGATTGAAAAGGGCACATCATGTGATGTGACAGTCTTTCTTTGGTTTCCATTCAGGATTTCTTACAATCTCCAGCTACAACCTGCTTAGCTTGCTACTCAGTACGTGAATTAGGATGCAGGCAACACACCTCAGAAGGCAGGAAGAAAAAAGGCACAGCTGATAATCAAGTCGTTAGAGTCAACCATCATTACTAAAGCCAACTCTCCACCCAGCGCATCTAAGCCTGTGCCTCTTCTTGCCACCCTAGCATCTCCTAAGCCAGATACAGCAAATGAATGCCGGAAGCTCACTATCAGAATGTTCCAAGACCTTTCCATAATAAAAAATAAGTATTTTTTTTTAATGTGCTATTTTTCTACAAATATTTACTTTCATGATAATGTCTACAATATCTTGTTTTCACAGCCAGAGCATTTTAATTGAGTCAGGATAAATGGTTTTTAAAAAAGCATTTGAAATAAAGCACTAAATATAATAGGTTGCAAATACCTTGTAGAAAAAGTATAATGAAACAGATGCTCATTATTTGTAAAGCTAATAGGATCATTTTTCTAACATTAACTCCCACACATGGTAACCTGTTCTCTACTTTTCTTTCTTCTGTTTTTCTCTTCACTTCTACTCTCTGGTTACCTCTGATTTTTCTACTCTGTATCCATTTTCCTATGTTGTCCCTCACCACCTTTTAAAAAACCCTTTTCCTTCTTGATCTTTCTCTCTCCCAAGTAAAATACTCTTACAAAAATCAAAGCATGGATAGTAGTTAAGAGATGCACAAAGCACGGAGAGAGTGCTAGAAAGATGGGAAGGCCTGTGCTTCCCTTTCTTCAGAGTGGCTGTGCAAAGAAAGACACATTTAGTACTAACTGTTAATGAGTCTTATATAATTATTTGAATTCAGATGACTGTGCAACATAAATCTTATACAATTATTCAAATTAAAATGACTGTGAAAAGTACCTGGCAGGAAAATACTCATTAGAAAGCTTTCACGTTTACTCTACAGATTCCCTCCTGTCCTACCATACTCTAAACCAATTTTTTCTGAAAAGGAATACTACCTTGTAGCATATGCTGGTTGTACTTCATGAGGGTTGCGACGGTCAGACCAGAAAAACAGCAGTCTATCAAATTTGGGTTCAATGTCAGCAAACTGGGCTTTGCCTTCTGGAAAAATTCGAAGTATACCTCCACTTACCTAGGAAAAGAGCCAAATATGTAAGCAGGAGTAACCAAAAATGCTACAAGATTAAATTTAGGGGGAAAAAAAGAGACAATTTCAATGTCTTAATTGGATTATTCACAAATACGTCTCAATAAAGTATGAAGATGAGCTGCAATTTTAAAAGTATATGCACTGATGCAAGGACAAATTTAGTTCTTATTTTAGGGATATTTATTTATTTATTGAGATGGAGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGTCTCAGCATCGCGAGTAGCTGGGATTACAGGCATGCGCCACCATGTCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACTGTCCCCAGCCATTTTAGGGATTTTTATAAATATCTGATGAAACACAAGAATGTTATCTGAATTTAAAAGTCTTAAAATGATGCTTGAAAGCTTTTAAAACTACTAAACGTTTATTTTTGTATGTTAATGATTTGCTTAACCCACCCTTCAAATAGATAGATTTCAAGAAATTTTGACAAAATTATTATTAGAAATAAATTATGTCAAATAGTTTACCATACTTTAAAATTCAATAAACAATAGGATAGTCACAAATACCTCTTACTTAAATAATTCAGTATATCAGTAGAAAGTGTCATCATTTATTATGACCATCATTATTGTCGTCGTCACCATCACCATCAGCATATAGTTCATTAGAACCTGTGGCTCTCCCTTTCCAGACTGGGCCTGATGCACAGATGACTACCTGCTTGTGAAACTTGATTCTACCCATAAAGGATTATTATTTACCTAAACACCAACTAGGCATCAAATCGCACTGGGAACTGTGGTGGGCTCTGGGTGCAGAGTAGGGAATAATGCAGACAGACTTTGTCCTTGCGGGGTTTACGATCTGGGGATAGGCAAAACCCAACCAACCAAGTAGCTCCTTACTCTTGAATAACTACACTCCTAAGCAGGTAGACTCTTAAAATTTAAAGAAACTCTAACACCTGGTCAGGACAACATGGCGTTTGAGCCTAAACCTAGAATCTATAGTTAAAGAAAAGGTTTATCAGGCTCACTGTCAGGTAAGTTAAATTCTAGCTACTTTGATACCCTTGCCAACCTTCCTCAGGTTCCAGTGTTGTTCAGAGTGATTCCCCAGGCTACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCT
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AAAGACATACTTTCTGATACAAATAATGGGGAAAATGTATAAACGCTATAGGAAGTGAAAGTACGCTACAAATCACCAGTTCCTGGGCAGAATATAGCAATTAGTTCAAATATATTGTGGATTGTGGCCAGTGGACACAGGGGAAAAGGCAACATTTATCAGACATACAGCCAGTAATATGACAGAATGAAAAATCACATAATGTATTTTGAAGTAAAGAGTCTGGGAGTTTGGACAACTGGGAGCCTGACGTTTACAGACCCCACCACTGGTGAATCACAGAGCTGAGGTCTAAGGAGGTCTCCTGACTTCCAGACCAGACTCTGCTCTTTCCAGAGTTCCACTACCTTTCTTACCATGTGGCTTCTTCTACTTTTGGGTGGCCTTGGAAATAGGAAAGGGCTCAGATACATAATTTTATGTATCTTTTGCCCATGCCCTAAACTTTTAGTCACTTAGCAATCAGAATTCTAATATCTGGATCAACAACTTACCTTATGTCATTCTAACTTTCCAGCCTTATCACCCATTCTAGATAAGATCAGAATAGGATTCTACTTCAAGAATCCTTTTCGTCGCATGATTTTCCATGCCTTAACTTGAACAACTACGCCTTTTCCCCCAGAACTTTACTAACACGACTGCACCCCTTGCCTCTCCTCACCTAGGCCAGCTGAGCCTCTCCCTTCAAAGCGCACTTGCCCGTCTCTCCAATGTAGCACCACCTTCGTTCCTCAACTCCTGTAGCACTTAGCCTCCATGCCATCTGGCATTTATTTACTATAAACTCCCAAGTATCTGTTATTTATTCATCTAAAAAGGACGTAACCAAACCAAACTCAGGATTTCATAAAAAGGAAGGTCTATGAGGCAGTTACTGTGTCAGAAAATCTTTACAGAAGCAGCAGGGGGCAGAGACAGCACTGGGATGCCACTGGGAAGAGACATGGGATTGAAAAGGGCACATCATGTGATGTGACAGTCTTTCTTTGGTTTCCATTCAGGATTTCTTACAATCTCCAGCTACAACCTGCTTAGCTTGCTACTCAGTACGTGAATTAGGATGCAGGCAACACACCTCAGAAGGCAGGAAGAAAAAAGGCACAGCTGATAATCAAGTCGTTAGAGTCAACCATCATTACTAAAGCCAACTCTCCACCCAGCGCATCTAAGCCTGTGCCTCTTCTTGCCACCCTAGCATCTCCTAAGCCAGATACAGCAAATGAATGCCGGAAGCTCACTATCAGAATGTTCCAAGACCTTTCCATAATAAAAAATAAGTATTTTTTTTTAATGTGCTATTTTTCTACAAATATTTACTTTCATGATAATGTCTACAATATCTTGTTTTCACAGCCAGAGCATTTTAATTGAGTCAGGATAAATGGTTTTTAAAAAAGCATTTGAAATAAAGCACTAAATATAATAGGTTGCAAATACCTTGTAGAAAAAGTATAATGAAACAGATGCTCATTATTTGTAAAGCTAATAGGATCATTTTTCTAACATTAACTCCCACACATGGTAACCTGTTCTCTACTTTTCTTTCTTCTGTTTTTCTCTTCACTTCTACTCTCTGGTTACCTCTGATTTTTCTACTCTGTATCCATTTTCCTATGTTGTCCCTCACCACCTTTTAAAAAACCCTTTTCCTTCTTGATCTTTCTCTCTCCCAAGTAAAATACTCTTACAAAAATCAAAGCATGGATAGTAGTTAAGAGATGCACAAAGCACGGAGAGAGTGCTAGAAAGATGGGAAGGCCTGTGCTTCCCTTTCTTCAGAGTGGCTGTGCAAAGAAAGACACATTTAGTACTAACTGTTAATGAGTCTTATATAATTATTTGAATTCAGATGACTGTGCAACATAAATCTTATACAATTATTCAAATTAAAATGACTGTGAAAAGTACCTGGCAGGAAAATACTCATTAGAAAGCTTTCACGTTTACTCTACAGATTCCCTCCTGTCCTACCATACTCTAAACCAATTTTTTCTGAAAAGGAATACTACCTTGTAGCATATGCTGGTTGTACTTCATGAGGGTTGTGACGGTCAGACCAGAAAAACAGCAGTCTATCAAATTTGGGTTCAATGTCAGCAAACTGGGCTTTGCCTTCTGGAAAAATTCGAAGTATACCTCCACTTACCTAGGAAAAGAGCCAAATATGTAAGCAGGAGTAACCAAAAATGCTACAAGATTAAATTTAGGGGGAAAAAAAGAGACAATTTCAATGTCTTAATTGGATTATTCACAAATACGTCTCAATAAAGTATGAAGATGAGCTGCAATTTTAAAAGTATATGCACTGATGCAAGGACAAATTTAGTTCTTATTTTAGGGATATTTATTTATTTATTGAGATGGAGTCTCGCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGCAATTCTCCTGTCTCAGCATCGCGAGTAGCTGGGATTACAGGCATGCGCCACCATGTCCAGCTAATTTTTGCATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGACTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGTATTACAGGTGTGAGCCACTGTCCCCAGCCATTTTAGGGATTTTTATAAATATCTGATGAAACACAAGAATGTTATCTGAATTTAAAAGTCTTAAAATGATGCTTGAAAGCTTTTAAAACTACTAAACGTTTATTTTTGTATGTTAATGATTTGCTTAACCCACCCTTCAAATAGATAGATTTCAAGAAATTTTGACAAAATTATTATTAGAAATAAATTATGTCAAATAGTTTACCATACTTTAAAATTCAATAAACAATAGGATAGTCACAAATACCTCTTACTTAAATAATTCAGTATATCAGTAGAAAGTGTCATCATTTATTATGACCATCATTATTGTCGTCGTCACCATCACCATCAGCATATAGTTCATTAGAACCTGTGGCTCTCCCTTTCCAGACTGGGCCTGATGCACAGATGACTACCTGCTTGTGAAACTTGATTCTACCCATAAAGGATTATTATTTACCTAAACACCAACTAGGCATCAAATCGCACTGGGAACTGTGGTGGGCTCTGGGTGCAGAGTAGGGAATAATGCAGACAGACTTTGTCCTTGCGGGGTTTACGATCTGGGGATAGGCAAAACCCAACCAACCAAGTAGCTCCTTACTCTTGAATAACTACACTCCTAAGCAGGTAGACTCTTAAAATTTAAAGAAACTCTAACACCTGGTCAGGACAACATGGCGTTTGAGCCTAAACCTAGAATCTATAGTTAAAGAAAAGGTTTATCAGGCTCACTGTCAGGTAAGTTAAATTCTAGCTACTTTGATACCCTTGCCAACCTTCCTCAGGTTCCAGTGTTGTTCAGAGTGATTCCCCAGGCTACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCT
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Task1_train_2879
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A variant was discovered on Chromosome 1, affecting EGLN1 (egl-9 family hypoxia inducible factor 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Erythrocytosis, familial, 3
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TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCTGTAACAGAAAAACCATGCTTGTTGACATGCCTCAATATATACTCAGCAGAAAGGTCAGCTCCATTTTGAACCTGGACTAGGGCAGAGAAAACTCTTTAAATCAGTGTGTTTTAGAAAGATTAGTGAAGCACTGTGAGCATATTCTAAACTTAAAACACTTTTTAGGGCAGGATTAGGTTTTTGCACATTTAAGACTCAGGCAGTTTCCATTTGTGTGTTTTGGGGGATGCAGAGAAAGAGGTTTTTTAAAGGTTATTTGACTTAAAAACAACAAAAAAAGGCACCCTGGCTACACAGGTATGTTCACTTTGTGAAAATCCACTGAACTATACAAGCCACTTTTCTATTTGAATGTTATACTTAAGATTTTAAAAAATCAACCAAAAAATTAGTCTGTACAGTCTCTAGTGTAGTAATATATGACATATTTTTTAAAAATCATTTAAATTTAATGAGACTCAGGCTAATATTAAGGAAATATATATTTAAAACAAGAGAGATTAAATATATTGTACATTCTAATTGGTTTTACAGGGCTTGTCAGTACTGATAAACTTCCAGTTTTTTAATAATCAGGGAAAGACTGAATCCTGCCTCCAATATTCAATTAAACAACTCAATGCCATATAATATTTTTACAAAAATGCCAAGAATAACATAGCAAATAATCCTTAACAATTATCCATAGATAATCTCCCCCAAAAGCCATTATAAAACAACTGTTCTCAGAAATGTTTTTCTAAAAACTATTAAAAGGAAAATATTTTAATAAAGGTCACCTTTCTAAAAAAGTTAGATTTTAGATAAGTGCTCTAACATCTGAAAATAAATGAATCCACTTTTTAAGATATATCAGTACTTTTTTATATGGTTTTGAGGTATAACTGATATACAAAAATGCATATCTTTAACATTTACAATTTGATGAGTTTGGATATATACGCACACCCTCATGACACACCACAACCAAGGTAATAAACATATCCATCACCTCTCAAAGTTCCGTTTCCCTTCCCCTAACCTCGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTTTAGAACACTGAACATGGAGTCTACCCTCTTAAATTTTTAAGTGCACAACACTACGTTGTTAACTACAGGTATCATGTTGTATAACATAGAGTAGTATTTGTTTCATTTTACAAAAATCCACTCCTAATACCTGAGACTGAAACAAATTTAAGAGGAAAATTTTTAACTGTGTCTGTGACAGTCTTATCAGAAGTATGAAACTTAATGCTTTTGAGAAAAAGACACCTGTAAGAAAAAAATAAATGCTCAATTAAGTTGCATACCTTGGCATCCCAGTCTTTATTAAGATAATATATACATGTCACACATCTTCCATCTCCATTTGGATTATCAACATGACGTACATAACCCGTTCCATTGCCCGGATAACAAGCAACCATGGCCTGTAATAATGATAATAATGATTATTAAAGTCCATGTATAAATAAAAAGAGAGAACAGCTAATAAATCAGATCTCTGATTTTTGGCTACTGATTTACACTTAGATTCTTCTAATAAAAATAATATTTTGTAGATAAGATAAGGCTATTCTACATTAACATTTATAGGGAACACAAGATAGGTTGATGAACAAGGACTGGTGAATTCTGCTTCACAGTGATAACTCCAAAGATCAGAAAAATTTCTTGGTCCTACTTTGACAATCTTTATAAATACAGATAATCAAGATCAAGTACGTTTTTGTCCTGCTCCATGGGAGATTTCAATCTTCCTTGAGCTCACCTCAGAACACCTACTTTACCATCTGATAGGTGAACCAACCCAGTCAACACCCCATCTGACACTGTCTCTGAATGGTACCAATTTTTTTTTTTTTTGAGACAGGGTCTGGCTCTGTTGCTCAGGTTCGAGTGCAGTGATGCAATCATGGCTCACTGCGGCCTCAACCTCCTGGGCTCAGGTGATTCTCCCACCTCAGCCTCCTAAGTAGCTAGGACTATAAGCACGTGTCACCAGGCTGGTTAATTTTTGTATTTTTTGTAGATATGGTGTCTTACTATGTTGTAATAGGGATAATTTAGGAGGTCAACTAAACTCCAAACATTAACTCATTTAGTGTCAGTGATTTTTTTTTAAAAAAAGGACTAAACAAATTAGCTTATGTTTACCCTCTTTCAATCAGAAAGAAAATTATTTGCTCAGATTATAACAAGATATGGTTCAGAAGACTGTTGGATGTTAAGCTTAAAGGTAGAAAAGAGGCCCAAAATAAAAAGCACAAAATAACTTCCATATTCTAGGTGTACATGATAATTAACTGAAATTGGTAATGGTATTTTTTAAAAAATTCTCAGGAATTATGAAGAAAACAAACAAAGACGTTCAAGGTTATGAGCTATTCTTGTTTTTGTTTGTTTTTTTACAGAGTCTTGCTCTGTTGACCAGGCTAGAGTGCAGTGGCACGATCTCAGCTCACTGCCTCCACCTTCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTGCCAGGCCCGGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTCACCATGTTGGCCAAGCTGGTCTTAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCTTGAGCCACCACGCCACCCGGTTTGTTATGAGCTATTCTTGAAGTCCTTTATTTCTTCATATAATAAAGTCAATGAATTAGTATAAAGTTATCAAACAGTAACCGAATTGTTCTACTATCATATTAAAAGAAAAATGCTAATTTTTAAAACTCACTTCCCATCCCTAAGAAACTAAGAGGCATCTTAAACCTAAATCCTTATTTAAAAATCCTGTTTCCCTAGACACTCTGAATTCACTGCTCTTTATAAGCAGCAGAATTTTTGGAGAACATTATATATGTCTCTGTTTTTCCTGATTCCAGACAGACTTAACAAGTTCCTTCTTTCAGCACTGGAGGTTGGTAACAACCAGGAGTGTGGCATGGGCTTAGTGGGTTTAAGTGCTCAATAAATGATGAGCCCAAATGATTTTCTTGTCACTAGCTACCCAGGAAAGAAGTTTACCTTGAATAGTAACTGTAAGAGGGTACTAATTTAACAATGCAATTACTCCATTTGTGGTTAACTGAAGTAATTATGATGAATTACACAATATATTGTTATTCATGGGAAAGAAGGGGGAAACCTGAACTCTACATCTCAAAAAAGTTAATTTGGGCCTTTCCAACTATCTGGTAACTTCAGCATCTCTTGTGTAAAGAAGGAAGGGGAAAATATTTGTCAGTCACTCACCCCATCACATCCCATATATCCATTTAACAAATACCTCTTGAACATCGACTATGTATATGAAAGGCACTGGGGCTAAAACG
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TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCTGTAACAGAAAAACCATGCTTGTTGACATGCCTCAATATATACTCAGCAGAAAGGTCAGCTCCATTTTGAACCTGGACTAGGGCAGAGAAAACTCTTTAAATCAGTGTGTTTTAGAAAGATTAGTGAAGCACTGTGAGCATATTCTAAACTTAAAACACTTTTTAGGGCAGGATTAGGTTTTTGCACATTTAAGACTCAGGCAGTTTCCATTTGTGTGTTTTGGGGGATGCAGAGAAAGAGGTTTTTTAAAGGTTATTTGACTTAAAAACAACAAAAAAAGGCACCCTGGCTACACAGGTATGTTCACTTTGTGAAAATCCACTGAACTATACAAGCCACTTTTCTATTTGAATGTTATACTTAAGATTTTAAAAAATCAACCAAAAAATTAGTCTGTACAGTCTCTAGTGTAGTAATATATGACATATTTTTTAAAAATCATTTAAATTTAATGAGACTCAGGCTAATATTAAGGAAATATATATTTAAAACAAGAGAGATTAAATATATTGTACATTCTAATTGGTTTTACAGGGCTTGTCAGTACTGATAAACTTCCAGTTTTTTAATAATCAGGGAAAGACTGAATCCTGCCTCCAATATTCAATTAAACAACTCAATGCCATATAATATTTTTACAAAAATGCCAAGAATAACATAGCAAATAATCCTTAACAATTATCCATAGATAATCTCCCCCAAAAGCCATTATAAAACAACTGTTCTCAGAAATGTTTTTCTAAAAACTATTAAAAGGAAAATATTTTAATAAAGGTCACCTTTCTAAAAAAGTTAGATTTTAGATAAGTGCTCTAACATCTGAAAATAAATGAATCCACTTTTTAAGATATATCAGTACTTTTTTATATGGTTTTGAGGTATAACTGATATACAAAAATGCATATCTTTAACATTTACAATTTGATGAGTTTGGATATATACGCACACCCTCATGACACACCACAACCAAGGTAATAAACATATCCATCACCTCTCAAAGTTCCGTTTCCCTTCCCCTAACCTCGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTTTAGAACACTGAACATGGAGTCTACCCTCTTAAATTTTTAAGTGCACAACACTACGTTGTTAACTACAGGTATCATGTTGTATAACATAGAGTAGTATTTGTTTCATTTTACAAAAATCCACTCCTAATACCTGAGACTGAAACAAATTTAAGAGGAAAATTTTTAACTGTGTCTGTGACAGTCTTATCAGAAGTATGAAACTTAATGCTTTTGAGAAAAAGACACCTGTAAGAAAAAAATAAATGCTCAATTAAGTTGCATACCTTGGCATCCCAGTCTTTATTAAGATAATATATACATGTCACACATCTTCCATCTCCATTTCGATTATCAACATGACGTACATAACCCGTTCCATTGCCCGGATAACAAGCAACCATGGCCTGTAATAATGATAATAATGATTATTAAAGTCCATGTATAAATAAAAAGAGAGAACAGCTAATAAATCAGATCTCTGATTTTTGGCTACTGATTTACACTTAGATTCTTCTAATAAAAATAATATTTTGTAGATAAGATAAGGCTATTCTACATTAACATTTATAGGGAACACAAGATAGGTTGATGAACAAGGACTGGTGAATTCTGCTTCACAGTGATAACTCCAAAGATCAGAAAAATTTCTTGGTCCTACTTTGACAATCTTTATAAATACAGATAATCAAGATCAAGTACGTTTTTGTCCTGCTCCATGGGAGATTTCAATCTTCCTTGAGCTCACCTCAGAACACCTACTTTACCATCTGATAGGTGAACCAACCCAGTCAACACCCCATCTGACACTGTCTCTGAATGGTACCAATTTTTTTTTTTTTTGAGACAGGGTCTGGCTCTGTTGCTCAGGTTCGAGTGCAGTGATGCAATCATGGCTCACTGCGGCCTCAACCTCCTGGGCTCAGGTGATTCTCCCACCTCAGCCTCCTAAGTAGCTAGGACTATAAGCACGTGTCACCAGGCTGGTTAATTTTTGTATTTTTTGTAGATATGGTGTCTTACTATGTTGTAATAGGGATAATTTAGGAGGTCAACTAAACTCCAAACATTAACTCATTTAGTGTCAGTGATTTTTTTTTAAAAAAAGGACTAAACAAATTAGCTTATGTTTACCCTCTTTCAATCAGAAAGAAAATTATTTGCTCAGATTATAACAAGATATGGTTCAGAAGACTGTTGGATGTTAAGCTTAAAGGTAGAAAAGAGGCCCAAAATAAAAAGCACAAAATAACTTCCATATTCTAGGTGTACATGATAATTAACTGAAATTGGTAATGGTATTTTTTAAAAAATTCTCAGGAATTATGAAGAAAACAAACAAAGACGTTCAAGGTTATGAGCTATTCTTGTTTTTGTTTGTTTTTTTACAGAGTCTTGCTCTGTTGACCAGGCTAGAGTGCAGTGGCACGATCTCAGCTCACTGCCTCCACCTTCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTGCCAGGCCCGGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTCACCATGTTGGCCAAGCTGGTCTTAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCTTGAGCCACCACGCCACCCGGTTTGTTATGAGCTATTCTTGAAGTCCTTTATTTCTTCATATAATAAAGTCAATGAATTAGTATAAAGTTATCAAACAGTAACCGAATTGTTCTACTATCATATTAAAAGAAAAATGCTAATTTTTAAAACTCACTTCCCATCCCTAAGAAACTAAGAGGCATCTTAAACCTAAATCCTTATTTAAAAATCCTGTTTCCCTAGACACTCTGAATTCACTGCTCTTTATAAGCAGCAGAATTTTTGGAGAACATTATATATGTCTCTGTTTTTCCTGATTCCAGACAGACTTAACAAGTTCCTTCTTTCAGCACTGGAGGTTGGTAACAACCAGGAGTGTGGCATGGGCTTAGTGGGTTTAAGTGCTCAATAAATGATGAGCCCAAATGATTTTCTTGTCACTAGCTACCCAGGAAAGAAGTTTACCTTGAATAGTAACTGTAAGAGGGTACTAATTTAACAATGCAATTACTCCATTTGTGGTTAACTGAAGTAATTATGATGAATTACACAATATATTGTTATTCATGGGAAAGAAGGGGGAAACCTGAACTCTACATCTCAAAAAAGTTAATTTGGGCCTTTCCAACTATCTGGTAACTTCAGCATCTCTTGTGTAAAGAAGGAAGGGGAAAATATTTGTCAGTCACTCACCCCATCACATCCCATATATCCATTTAACAAATACCTCTTGAACATCGACTATGTATATGAAAGGCACTGGGGCTAAAACG
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Task1_train_2880
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The gene EGLN1 (egl-9 family hypoxia inducible factor 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; not specified
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TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCTGTAACAGAAAAACCATGCTTGTTGACATGCCTCAATATATACTCAGCAGAAAGGTCAGCTCCATTTTGAACCTGGACTAGGGCAGAGAAAACTCTTTAAATCAGTGTGTTTTAGAAAGATTAGTGAAGCACTGTGAGCATATTCTAAACTTAAAACACTTTTTAGGGCAGGATTAGGTTTTTGCACATTTAAGACTCAGGCAGTTTCCATTTGTGTGTTTTGGGGGATGCAGAGAAAGAGGTTTTTTAAAGGTTATTTGACTTAAAAACAACAAAAAAAGGCACCCTGGCTACACAGGTATGTTCACTTTGTGAAAATCCACTGAACTATACAAGCCACTTTTCTATTTGAATGTTATACTTAAGATTTTAAAAAATCAACCAAAAAATTAGTCTGTACAGTCTCTAGTGTAGTAATATATGACATATTTTTTAAAAATCATTTAAATTTAATGAGACTCAGGCTAATATTAAGGAAATATATATTTAAAACAAGAGAGATTAAATATATTGTACATTCTAATTGGTTTTACAGGGCTTGTCAGTACTGATAAACTTCCAGTTTTTTAATAATCAGGGAAAGACTGAATCCTGCCTCCAATATTCAATTAAACAACTCAATGCCATATAATATTTTTACAAAAATGCCAAGAATAACATAGCAAATAATCCTTAACAATTATCCATAGATAATCTCCCCCAAAAGCCATTATAAAACAACTGTTCTCAGAAATGTTTTTCTAAAAACTATTAAAAGGAAAATATTTTAATAAAGGTCACCTTTCTAAAAAAGTTAGATTTTAGATAAGTGCTCTAACATCTGAAAATAAATGAATCCACTTTTTAAGATATATCAGTACTTTTTTATATGGTTTTGAGGTATAACTGATATACAAAAATGCATATCTTTAACATTTACAATTTGATGAGTTTGGATATATACGCACACCCTCATGACACACCACAACCAAGGTAATAAACATATCCATCACCTCTCAAAGTTCCGTTTCCCTTCCCCTAACCTCGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTTTAGAACACTGAACATGGAGTCTACCCTCTTAAATTTTTAAGTGCACAACACTACGTTGTTAACTACAGGTATCATGTTGTATAACATAGAGTAGTATTTGTTTCATTTTACAAAAATCCACTCCTAATACCTGAGACTGAAACAAATTTAAGAGGAAAATTTTTAACTGTGTCTGTGACAGTCTTATCAGAAGTATGAAACTTAATGCTTTTGAGAAAAAGACACCTGTAAGAAAAAAATAAATGCTCAATTAAGTTGCATACCTTGGCATCCCAGTCTTTATTAAGATAATATATACATGTCACACATCTTCCATCTCCATTTGGATTATCAACATGACGTACATAACCCGTTCCATTGCCCGGATAACAAGCAACCATGGCCTGTAATAATGATAATAATGATTATTAAAGTCCATGTATAAATAAAAAGAGAGAACAGCTAATAAATCAGATCTCTGATTTTTGGCTACTGATTTACACTTAGATTCTTCTAATAAAAATAATATTTTGTAGATAAGATAAGGCTATTCTACATTAACATTTATAGGGAACACAAGATAGGTTGATGAACAAGGACTGGTGAATTCTGCTTCACAGTGATAACTCCAAAGATCAGAAAAATTTCTTGGTCCTACTTTGACAATCTTTATAAATACAGATAATCAAGATCAAGTACGTTTTTGTCCTGCTCCATGGGAGATTTCAATCTTCCTTGAGCTCACCTCAGAACACCTACTTTACCATCTGATAGGTGAACCAACCCAGTCAACACCCCATCTGACACTGTCTCTGAATGGTACCAATTTTTTTTTTTTTTGAGACAGGGTCTGGCTCTGTTGCTCAGGTTCGAGTGCAGTGATGCAATCATGGCTCACTGCGGCCTCAACCTCCTGGGCTCAGGTGATTCTCCCACCTCAGCCTCCTAAGTAGCTAGGACTATAAGCACGTGTCACCAGGCTGGTTAATTTTTGTATTTTTTGTAGATATGGTGTCTTACTATGTTGTAATAGGGATAATTTAGGAGGTCAACTAAACTCCAAACATTAACTCATTTAGTGTCAGTGATTTTTTTTTAAAAAAAGGACTAAACAAATTAGCTTATGTTTACCCTCTTTCAATCAGAAAGAAAATTATTTGCTCAGATTATAACAAGATATGGTTCAGAAGACTGTTGGATGTTAAGCTTAAAGGTAGAAAAGAGGCCCAAAATAAAAAGCACAAAATAACTTCCATATTCTAGGTGTACATGATAATTAACTGAAATTGGTAATGGTATTTTTTAAAAAATTCTCAGGAATTATGAAGAAAACAAACAAAGACGTTCAAGGTTATGAGCTATTCTTGTTTTTGTTTGTTTTTTTACAGAGTCTTGCTCTGTTGACCAGGCTAGAGTGCAGTGGCACGATCTCAGCTCACTGCCTCCACCTTCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTGCCAGGCCCGGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTCACCATGTTGGCCAAGCTGGTCTTAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCTTGAGCCACCACGCCACCCGGTTTGTTATGAGCTATTCTTGAAGTCCTTTATTTCTTCATATAATAAAGTCAATGAATTAGTATAAAGTTATCAAACAGTAACCGAATTGTTCTACTATCATATTAAAAGAAAAATGCTAATTTTTAAAACTCACTTCCCATCCCTAAGAAACTAAGAGGCATCTTAAACCTAAATCCTTATTTAAAAATCCTGTTTCCCTAGACACTCTGAATTCACTGCTCTTTATAAGCAGCAGAATTTTTGGAGAACATTATATATGTCTCTGTTTTTCCTGATTCCAGACAGACTTAACAAGTTCCTTCTTTCAGCACTGGAGGTTGGTAACAACCAGGAGTGTGGCATGGGCTTAGTGGGTTTAAGTGCTCAATAAATGATGAGCCCAAATGATTTTCTTGTCACTAGCTACCCAGGAAAGAAGTTTACCTTGAATAGTAACTGTAAGAGGGTACTAATTTAACAATGCAATTACTCCATTTGTGGTTAACTGAAGTAATTATGATGAATTACACAATATATTGTTATTCATGGGAAAGAAGGGGGAAACCTGAACTCTACATCTCAAAAAAGTTAATTTGGGCCTTTCCAACTATCTGGTAACTTCAGCATCTCTTGTGTAAAGAAGGAAGGGGAAAATATTTGTCAGTCACTCACCCCATCACATCCCATATATCCATTTAACAAATACCTCTTGAACATCGACTATGTATATGAAAGGCACTGGGGCTAAAACG
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TACTATGCAAACATCTAAAGAACCTCCAAACTGAGAACATGTCTTCTTTCCTTTTTTCCTGCTCCCTTCCCTTTGACTCAAGTCATTGGGAGTACCACAGGTGACCTGCTGAAAATGTTTTAAGTGAAATGGCTACTTGACACTTCCACTCTTCCTCCTCTGAATTAGGTGGCCCTCCTGTGTGCTCCATAGCAATCTGTCTTGACACTTTGCATAACTATCTGTAACTGTCAATCTTTCTGATCTGTATCCTCCAATAGATCCTAAGCTCTGCCAGGGCTAATTCCGTTTCTGCTACATCCCTAGCATCCAGAACAACTGACACACTACATATTCAGTGCAATCTAGCATGGAAAATTTCTATTCTACACACAAAAACACTAGGGACGTTTCTCTGCCTATGTCCTAATTTAAAACCTACACATTAATGACCCTGACTAAGTATTATAGAAATTATAAGATCAGCCTAGAAAAAGCCTAACAAAATCTAGAAGTTAGAAGCTGATGAAACACAGTTCTAGCTTTCTAGCTATTCACAAAATCTGAAAAAAAGTCAATTTTTAAATTTTAACTAAAGTTACACCCATCTGTTTTGTGCCTTGGGCTCAAATTCAATTACAAAATTTATTTCTCTACTTCAAACTTTGAAAGCTGTAACAGAAAAACCATGCTTGTTGACATGCCTCAATATATACTCAGCAGAAAGGTCAGCTCCATTTTGAACCTGGACTAGGGCAGAGAAAACTCTTTAAATCAGTGTGTTTTAGAAAGATTAGTGAAGCACTGTGAGCATATTCTAAACTTAAAACACTTTTTAGGGCAGGATTAGGTTTTTGCACATTTAAGACTCAGGCAGTTTCCATTTGTGTGTTTTGGGGGATGCAGAGAAAGAGGTTTTTTAAAGGTTATTTGACTTAAAAACAACAAAAAAAGGCACCCTGGCTACACAGGTATGTTCACTTTGTGAAAATCCACTGAACTATACAAGCCACTTTTCTATTTGAATGTTATACTTAAGATTTTAAAAAATCAACCAAAAAATTAGTCTGTACAGTCTCTAGTGTAGTAATATATGACATATTTTTTAAAAATCATTTAAATTTAATGAGACTCAGGCTAATATTAAGGAAATATATATTTAAAACAAGAGAGATTAAATATATTGTACATTCTAATTGGTTTTACAGGGCTTGTCAGTACTGATAAACTTCCAGTTTTTTAATAATCAGGGAAAGACTGAATCCTGCCTCCAATATTCAATTAAACAACTCAATGCCATATAATATTTTTACAAAAATGCCAAGAATAACATAGCAAATAATCCTTAACAATTATCCATAGATAATCTCCCCCAAAAGCCATTATAAAACAACTGTTCTCAGAAATGTTTTTCTAAAAACTATTAAAAGGAAAATATTTTAATAAAGGTCACCTTTCTAAAAAAGTTAGATTTTAGATAAGTGCTCTAACATCTGAAAATAAATGAATCCACTTTTTAAGATATATCAGTACTTTTTTATATGGTTTTGAGGTATAACTGATATACAAAAATGCATATCTTTAACATTTACAATTTGATGAGTTTGGATATATACGCACACCCTCATGACACACCACAACCAAGGTAATAAACATATCCATCACCTCTCAAAGTTCCGTTTCCCTTCCCCTAACCTCGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTTTAGAACACTGAACATGGAGTCTACCCTCTTAAATTTTTAAGTGCACAACACTACGTTGTTAACTACAGGTATCATGTTGTATAACATAGAGTAGTATTTGTTTCATTTTACAAAAATCCACTCCTAATACCTGAGACTGAAACAAATTTAAGAGGAAAATTTTTAACTGTGTCTGTGACAGTCTTATCAGAAGTATGAAACTTAATGCTTTTGAGAAAAAGACACCTGTAAGAAAAAAATAAATGCTCAATTAAGTTGCATACCTTGGCATCCCAGTCTTTATTAAGATAATATATACATGTCACACATCTTCCATCTCCATTTCGATTATCAACATGACGTACATAACCCGTTCCATTGCCCGGATAACAAGCAACCATGGCCTGTAATAATGATAATAATGATTATTAAAGTCCATGTATAAATAAAAAGAGAGAACAGCTAATAAATCAGATCTCTGATTTTTGGCTACTGATTTACACTTAGATTCTTCTAATAAAAATAATATTTTGTAGATAAGATAAGGCTATTCTACATTAACATTTATAGGGAACACAAGATAGGTTGATGAACAAGGACTGGTGAATTCTGCTTCACAGTGATAACTCCAAAGATCAGAAAAATTTCTTGGTCCTACTTTGACAATCTTTATAAATACAGATAATCAAGATCAAGTACGTTTTTGTCCTGCTCCATGGGAGATTTCAATCTTCCTTGAGCTCACCTCAGAACACCTACTTTACCATCTGATAGGTGAACCAACCCAGTCAACACCCCATCTGACACTGTCTCTGAATGGTACCAATTTTTTTTTTTTTTGAGACAGGGTCTGGCTCTGTTGCTCAGGTTCGAGTGCAGTGATGCAATCATGGCTCACTGCGGCCTCAACCTCCTGGGCTCAGGTGATTCTCCCACCTCAGCCTCCTAAGTAGCTAGGACTATAAGCACGTGTCACCAGGCTGGTTAATTTTTGTATTTTTTGTAGATATGGTGTCTTACTATGTTGTAATAGGGATAATTTAGGAGGTCAACTAAACTCCAAACATTAACTCATTTAGTGTCAGTGATTTTTTTTTAAAAAAAGGACTAAACAAATTAGCTTATGTTTACCCTCTTTCAATCAGAAAGAAAATTATTTGCTCAGATTATAACAAGATATGGTTCAGAAGACTGTTGGATGTTAAGCTTAAAGGTAGAAAAGAGGCCCAAAATAAAAAGCACAAAATAACTTCCATATTCTAGGTGTACATGATAATTAACTGAAATTGGTAATGGTATTTTTTAAAAAATTCTCAGGAATTATGAAGAAAACAAACAAAGACGTTCAAGGTTATGAGCTATTCTTGTTTTTGTTTGTTTTTTTACAGAGTCTTGCTCTGTTGACCAGGCTAGAGTGCAGTGGCACGATCTCAGCTCACTGCCTCCACCTTCCAGGTTCAAGCGATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCTGCCAGGCCCGGCTAATTTTTGTATTTTTAGTAGATACAGGGTTTCACCATGTTGGCCAAGCTGGTCTTAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCTTGAGCCACCACGCCACCCGGTTTGTTATGAGCTATTCTTGAAGTCCTTTATTTCTTCATATAATAAAGTCAATGAATTAGTATAAAGTTATCAAACAGTAACCGAATTGTTCTACTATCATATTAAAAGAAAAATGCTAATTTTTAAAACTCACTTCCCATCCCTAAGAAACTAAGAGGCATCTTAAACCTAAATCCTTATTTAAAAATCCTGTTTCCCTAGACACTCTGAATTCACTGCTCTTTATAAGCAGCAGAATTTTTGGAGAACATTATATATGTCTCTGTTTTTCCTGATTCCAGACAGACTTAACAAGTTCCTTCTTTCAGCACTGGAGGTTGGTAACAACCAGGAGTGTGGCATGGGCTTAGTGGGTTTAAGTGCTCAATAAATGATGAGCCCAAATGATTTTCTTGTCACTAGCTACCCAGGAAAGAAGTTTACCTTGAATAGTAACTGTAAGAGGGTACTAATTTAACAATGCAATTACTCCATTTGTGGTTAACTGAAGTAATTATGATGAATTACACAATATATTGTTATTCATGGGAAAGAAGGGGGAAACCTGAACTCTACATCTCAAAAAAGTTAATTTGGGCCTTTCCAACTATCTGGTAACTTCAGCATCTCTTGTGTAAAGAAGGAAGGGGAAAATATTTGTCAGTCACTCACCCCATCACATCCCATATATCCATTTAACAAATACCTCTTGAACATCGACTATGTATATGAAAGGCACTGGGGCTAAAACG
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Task1_train_2881
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Gene COA6 (cytochrome c oxidase assembly factor 6) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
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CTCTTGCTAGTCTTAACGATTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACTATGGGGGAAATACTTTCTATATTGCAGAACACATATTTGGTGGTACGTAGCCTCACATCGCCACCCGGAAAAGTCTGCATATATTGAATTTGGAATGGATCAAACTGCACTGAGTGCAAAATTGTAAATTGCATCTTATATAAATGTTTTAGAACTAGATGATGGAGCAGATGGGATCTATTAAGAGAACGGGGTGCCAGATGACTGACCATAAACATGCTTTTTAATAAAGACTCTGCTGAGAGATTAACTCATATATTTTCTAAAATTTTTATTTCTTGTTCATTTTGTTTCTAAGATATTCACTCACATATTAAAAATAACAACGTCTCAAAACATTTGAAGCAACTCTCTTCATCCCTTTTAAAAATACCTTGCTGTTTCGGGGGTTAAAAAAAGCCACAAGGGAGATTAAAACAATACAAATATTTATTTTCCCAACTCCCCTGCCATGGGTTCTGGGACGTCACCGCCTCTTTCTGGGGCCCGTTTCATCCTTTTCTTTTAATCCAAGAAGCGATGGTGTTGTGCGCCTGTAGTCCCAGCTACCTGGGAGGCAGGCTGAGGTGGGAGGATCTTTTGGGTCCAGGATTTTGAGGCTGCAGTAAGCCGTGTTCTCACCACTGCACTCGAGACTGGGCGGAAGAGCGAGACACTGTATCAAAAACAAAACAAAACAAAACGAGAAGGCATCGCGGCTCTGTAACACTCCGTCCAGCTCTCGCACTCTCAGATGCAAACTTCCACACAAACTCCTCGGCTCGCCTTGTCCCGCGGGACTAGCATATCAAGCCTTCCGGGACACACCGTGCGATGATATATACGTATATACCCCTCTTGCCCTTGAAGGCCGGAAGTCGGTCTTACAGATAAAAGCGAAACAGGAAGTCCCGCCCCTCTATGGAAAGTAAATGGTAGCTCGGAAGGGTCAAAAGAGTCCGCGGTTTCGCCGCGTGAGTTGCTTTTTGCGGCTGGGGAGGTCTACGCTTCTAGAGCTTGAGCCAGCGGGGCGACCCTGCAGTGGCAGGACTCGGCACCGCGCCCTCCACCGCCGGTTGGTGGCCTGCGTGACAGTTTCCTCCCGTCGACATCGAAAGGAAGCCGGACGTGGGCGGGCAGAGAGGTCGGCTTGCTGATGGGTCCGGGTGGGGCGCGCGTGGACTATGGGCCCGGGAGGTCCCTTACTGTCCCCGAGCCGCGGGTTCCTCTTGTGCAAAACGGGGTGGCACTCCAATCGCCTGCTTGGTGATTGTGGCCCCCACACACCTGTTTCTACAGCGCTTAGGTTCGAACAGTAACCCTGTAAACTAGGCACTGCTGTCCCCGCTTTACTGGTGGGAAACGGGCTCGGAGAGAATAAATGAGCTGCCCTAAGCGACTGGGACAGAACCACAGTTCTCAGCCGGGCTTTCTGAGCCCACGCTGCCGCCCCAGCAGGGATCAAATCACACAGTGTGAGATAAGCCTCAAGAGCGGGTGGCCTTATGCTGCCACTGAGAACTGATTGGGTTCAGTTGCCTCATCAAAATCCCTAAGCATGGTTTTGTTTTGTTTTTGTTTTTTTTTTTTTTTTTAGTTTTAAAGGAAGAGGAGATTGACGGTTTTCCTCTTTCCTTATCTTCTCTTCAGATTACAAAGTTCATTGTTAATCTCAAATATTATTTTGGCCAACAGCTTCATCGCAGTAGGAATGGCAGCCCCATCTATGAAGGAAAGACAGGTCTGCTGGGGGGCCCGGGATGAGTACTGGAAGTGTTTAGATGAGAACTTAGAGGATGCTTCTCAATGCAAGAAGTTAAGAAGCTCTTTCGAATCAAGTTGTCCCCAACAGTGGGTAAGTCACACTTTGATGTGTTTCTCTTCCCTGTTAAGATACATCGAGCTTATACTGTGAGTGGTAGGCTGACATGAAGCGCTCTCTGAGGCATGTCAATTAACAGTTTCTTTGAGGCGCAGAGAAAACCTTGCCTGGTAATTCAGCCTTATTTGACGCACTTACATCAGCTAGATCTTTGGAGAATGTCAACTGACACATTAAAGAGCATCGAAAAACACAACAAACATATGAACAGTAACCAAAAAATTCCAGTTCATTTCACTGGTAGACTTTTCCAGGATCTTCTGAAGGGGTAGTATTTAATCTTGGGCAGGAGTTGGCAAAATTATTGACCTAGAGCTACTATCAGAAATAAAGCATTCCCAGTTGCTCACCCAAAAATCCTGTAAGTCATCATATACCCAAAATATAAAGAAAGGAGTTTGGTAAGCAGAAGAAAGAAAAGGTTCATATGGTGGATTCTGTCTCCCTGACAGGCATTCAAGCGCTGTATCCCCTGTCCTTAGTATAAGGGGGGATTGGAAAGAGGACTATTACTGAGGTTAGTAAGTGGCCATGTGTGCTAAGTGCTTGACATTTTCATCTTCACCAGTACCTGTTAAGATAGGTGTTGTTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAATAGCTGGGCATGGTGGCACATGCCTCTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGACCTGGGAGGTGGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGGCCACAGAGCGAGACGTTGTTATTCTCTATCTCCAGAGGAGGCAGCTGAAGCTCAGAGCATTGAAGTAACTCGCTTGTTATTACTCAGCAAGTGGCAAAACTGTAATTTTAAGGCAGGCCTAACTGGCTGGTGTGGGATTTGAACTTGGATTTGCCTGTGCTTTTTCACTGTCTTATGCTGCTGCAAAATATACCATGTAGTTGGAAAACAGATACTTTTAGAGTTGAAGTGGTTTTAGGGGTTTTGCCCTCTCATACCTCAAACCTTTAAAAGGCTCTGAAGGAGGCTACAAGAAGGCTGTGATGCAGGGAGGGGTCGTATTGGTGGCTGAGCTGGGGATGAACACAGTGAACAGAAATTACTTTATTTTTCTTTCTTTAATTTTTAGAGACAGGTTCTCAATCTGTCACCCTGGCTTGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCCTCAAGCAATCTTCCCGCCTAAACCTCCTGAGAAGCTGGCACTATGGGCATTTGCCACCATGCCTGGCTAATTTTTAAAATTATTTTGTAAAGACAGGATCTCACTATGTTGCCCAGGCTGGGCTCGAACTCCTGGGCTCAAGTGATCTTCCCACCTCGACCTCCCAAAGCACTGGGATTAACAGGCGTGAGTCACCACGTCTGGCCAGGCATTGCTTTAGATGAACTCTTCATCTGTAAAACCAGCCTGTTACAACCTATCTCGTGGGATTGTTATGACAACAAAATGCATAACTTGACATGTAAACTGAAAACTGATCAATGTGGGACTCTATGATTGAATTAGATAATGACTCCAGAAGAAAATATTATACATCTGTAGTTTTCCCATTAGACAGATGCATTGAGAGGAACTCCAGGTTTAAGGAGTTCCCCTTCGATCCCACTTTTATCCTCTCTCTCCTCCTGCAACCCACTGCTTTTTCTCCAGCCTGATGGCTCCCACTCCCACACTTCCGGGGCAGCTTCCAGTCTGTGTGCCAGAAAGGGTTTTTACAACCAGCCATTTGGTTCTTGATCGTA
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CTCTTGCTAGTCTTAACGATTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACTATGGGGGAAATACTTTCTATATTGCAGAACACATATTTGGTGGTACGTAGCCTCACATCGCCACCCGGAAAAGTCTGCATATATTGAATTTGGAATGGATCAAACTGCACTGAGTGCAAAATTGTAAATTGCATCTTATATAAATGTTTTAGAACTAGATGATGGAGCAGATGGGATCTATTAAGAGAACGGGGTGCCAGATGACTGACCATAAACATGCTTTTTAATAAAGACTCTGCTGAGAGATTAACTCATATATTTTCTAAAATTTTTATTTCTTGTTCATTTTGTTTCTAAGATATTCACTCACATATTAAAAATAACAACGTCTCAAAACATTTGAAGCAACTCTCTTCATCCCTTTTAAAAATACCTTGCTGTTTCGGGGGTTAAAAAAAGCCACAAGGGAGATTAAAACAATACAAATATTTATTTTCCCAACTCCCCTGCCATGGGTTCTGGGACGTCACCGCCTCTTTCTGGGGCCCGTTTCATCCTTTTCTTTTAATCCAAGAAGCGATGGTGTTGTGCGCCTGTAGTCCCAGCTACCTGGGAGGCAGGCTGAGGTGGGAGGATCTTTTGGGTCCAGGATTTTGAGGCTGCAGTAAGCCGTGTTCTCACCACTGCACTCGAGACTGGGCGGAAGAGCGAGACACTGTATCAAAAACAAAACAAAACAAAACGAGAAGGCATCGCGGCTCTGTAACACTCCGTCCAGCTCTCGCACTCTCAGATGCAAACTTCCACACAAACTCCTCGGCTCGCCTTGTCCCGCGGGACTAGCATATCAAGCCTTCCGGGACACACCGTGCGATGATATATACGTATATACCCCTCTTGCCCTTGAAGGCCGGAAGTCGGTCTTACAGATAAAAGCGAAACAGGAAGTCCCGCCCCTCTATGGAAAGTAAATGGTAGCTCGGAAGGGTCAAAAGAGTCCGCGGTTTCGCCGCGTGAGTTGCTTTTTGCGGCTGGGGAGGTCTACGCTTCTAGAGCTTGAGCCAGCGGGGCGACCCTGCAGTGGCAGGACTCGGCACCGCGCCCTCCACCGCCGGTTGGTGGCCTGCGTGACAGTTTCCTCCCGTCGACATCGAAAGGAAGCCGGACGTGGGCGGGCAGAGAGGTCGGCTTGCTGATGGGTCCGGGTGGGGCGCGCGTGGACTATGGGCCCGGGAGGTCCCTTACTGTCCCCGAGCCGCGGGTTCCTCTTGTGCAAAACGGGGTGGCACTCCAATCGCCTGCTTGGTGATTGTGGCCCCCACACACCTGTTTCTACAGCGCTTAGGTTCGAACAGTAACCCTGTAAACTAGGCACTGCTGTCCCCGCTTTACTGGTGGGAAACGGGCTCGGAGAGAATAAATGAGCTGCCCTAAGCGACTGGGACAGAACCACAGTTCTCAGCCGGGCTTTCTGAGCCCACGCTGCCGCCCCAGCAGGGATCAAATCACACAGTGTGAGATAAGCCTCAAGAGCGGGTGGCCTTATGCTGCCACTGAGAACTGATTGGGTTCAGTTGCCTCATCAAAATCCCTAAGCATGGTTTTGTTTTGTTTTTGTTTTTTTTTTTTTTTTTAGTTTTAAAGGAAGAGGAGATTGACGGTTTTCCTCTTTCCTTATCTTCTCTTCAGATTACAAAGTTCATTGTTAATCTCAAATATTATTTTGGCCAACAGCTTCATCGCAGTAGGAATGGCAGCCCCATCTATGAAGGAAAGACAGGTCTGCTGCGGGGCCCGGGATGAGTACTGGAAGTGTTTAGATGAGAACTTAGAGGATGCTTCTCAATGCAAGAAGTTAAGAAGCTCTTTCGAATCAAGTTGTCCCCAACAGTGGGTAAGTCACACTTTGATGTGTTTCTCTTCCCTGTTAAGATACATCGAGCTTATACTGTGAGTGGTAGGCTGACATGAAGCGCTCTCTGAGGCATGTCAATTAACAGTTTCTTTGAGGCGCAGAGAAAACCTTGCCTGGTAATTCAGCCTTATTTGACGCACTTACATCAGCTAGATCTTTGGAGAATGTCAACTGACACATTAAAGAGCATCGAAAAACACAACAAACATATGAACAGTAACCAAAAAATTCCAGTTCATTTCACTGGTAGACTTTTCCAGGATCTTCTGAAGGGGTAGTATTTAATCTTGGGCAGGAGTTGGCAAAATTATTGACCTAGAGCTACTATCAGAAATAAAGCATTCCCAGTTGCTCACCCAAAAATCCTGTAAGTCATCATATACCCAAAATATAAAGAAAGGAGTTTGGTAAGCAGAAGAAAGAAAAGGTTCATATGGTGGATTCTGTCTCCCTGACAGGCATTCAAGCGCTGTATCCCCTGTCCTTAGTATAAGGGGGGATTGGAAAGAGGACTATTACTGAGGTTAGTAAGTGGCCATGTGTGCTAAGTGCTTGACATTTTCATCTTCACCAGTACCTGTTAAGATAGGTGTTGTTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAATAGCTGGGCATGGTGGCACATGCCTCTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGACCTGGGAGGTGGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGGCCACAGAGCGAGACGTTGTTATTCTCTATCTCCAGAGGAGGCAGCTGAAGCTCAGAGCATTGAAGTAACTCGCTTGTTATTACTCAGCAAGTGGCAAAACTGTAATTTTAAGGCAGGCCTAACTGGCTGGTGTGGGATTTGAACTTGGATTTGCCTGTGCTTTTTCACTGTCTTATGCTGCTGCAAAATATACCATGTAGTTGGAAAACAGATACTTTTAGAGTTGAAGTGGTTTTAGGGGTTTTGCCCTCTCATACCTCAAACCTTTAAAAGGCTCTGAAGGAGGCTACAAGAAGGCTGTGATGCAGGGAGGGGTCGTATTGGTGGCTGAGCTGGGGATGAACACAGTGAACAGAAATTACTTTATTTTTCTTTCTTTAATTTTTAGAGACAGGTTCTCAATCTGTCACCCTGGCTTGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCCTCAAGCAATCTTCCCGCCTAAACCTCCTGAGAAGCTGGCACTATGGGCATTTGCCACCATGCCTGGCTAATTTTTAAAATTATTTTGTAAAGACAGGATCTCACTATGTTGCCCAGGCTGGGCTCGAACTCCTGGGCTCAAGTGATCTTCCCACCTCGACCTCCCAAAGCACTGGGATTAACAGGCGTGAGTCACCACGTCTGGCCAGGCATTGCTTTAGATGAACTCTTCATCTGTAAAACCAGCCTGTTACAACCTATCTCGTGGGATTGTTATGACAACAAAATGCATAACTTGACATGTAAACTGAAAACTGATCAATGTGGGACTCTATGATTGAATTAGATAATGACTCCAGAAGAAAATATTATACATCTGTAGTTTTCCCATTAGACAGATGCATTGAGAGGAACTCCAGGTTTAAGGAGTTCCCCTTCGATCCCACTTTTATCCTCTCTCTCCTCCTGCAACCCACTGCTTTTTCTCCAGCCTGATGGCTCCCACTCCCACACTTCCGGGGCAGCTTCCAGTCTGTGTGCCAGAAAGGGTTTTTACAACCAGCCATTTGGTTCTTGATCGTA
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Task1_train_2882
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This variant impacts the gene COA6 (cytochrome c oxidase assembly factor 6) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
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TTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACTATGGGGGAAATACTTTCTATATTGCAGAACACATATTTGGTGGTACGTAGCCTCACATCGCCACCCGGAAAAGTCTGCATATATTGAATTTGGAATGGATCAAACTGCACTGAGTGCAAAATTGTAAATTGCATCTTATATAAATGTTTTAGAACTAGATGATGGAGCAGATGGGATCTATTAAGAGAACGGGGTGCCAGATGACTGACCATAAACATGCTTTTTAATAAAGACTCTGCTGAGAGATTAACTCATATATTTTCTAAAATTTTTATTTCTTGTTCATTTTGTTTCTAAGATATTCACTCACATATTAAAAATAACAACGTCTCAAAACATTTGAAGCAACTCTCTTCATCCCTTTTAAAAATACCTTGCTGTTTCGGGGGTTAAAAAAAGCCACAAGGGAGATTAAAACAATACAAATATTTATTTTCCCAACTCCCCTGCCATGGGTTCTGGGACGTCACCGCCTCTTTCTGGGGCCCGTTTCATCCTTTTCTTTTAATCCAAGAAGCGATGGTGTTGTGCGCCTGTAGTCCCAGCTACCTGGGAGGCAGGCTGAGGTGGGAGGATCTTTTGGGTCCAGGATTTTGAGGCTGCAGTAAGCCGTGTTCTCACCACTGCACTCGAGACTGGGCGGAAGAGCGAGACACTGTATCAAAAACAAAACAAAACAAAACGAGAAGGCATCGCGGCTCTGTAACACTCCGTCCAGCTCTCGCACTCTCAGATGCAAACTTCCACACAAACTCCTCGGCTCGCCTTGTCCCGCGGGACTAGCATATCAAGCCTTCCGGGACACACCGTGCGATGATATATACGTATATACCCCTCTTGCCCTTGAAGGCCGGAAGTCGGTCTTACAGATAAAAGCGAAACAGGAAGTCCCGCCCCTCTATGGAAAGTAAATGGTAGCTCGGAAGGGTCAAAAGAGTCCGCGGTTTCGCCGCGTGAGTTGCTTTTTGCGGCTGGGGAGGTCTACGCTTCTAGAGCTTGAGCCAGCGGGGCGACCCTGCAGTGGCAGGACTCGGCACCGCGCCCTCCACCGCCGGTTGGTGGCCTGCGTGACAGTTTCCTCCCGTCGACATCGAAAGGAAGCCGGACGTGGGCGGGCAGAGAGGTCGGCTTGCTGATGGGTCCGGGTGGGGCGCGCGTGGACTATGGGCCCGGGAGGTCCCTTACTGTCCCCGAGCCGCGGGTTCCTCTTGTGCAAAACGGGGTGGCACTCCAATCGCCTGCTTGGTGATTGTGGCCCCCACACACCTGTTTCTACAGCGCTTAGGTTCGAACAGTAACCCTGTAAACTAGGCACTGCTGTCCCCGCTTTACTGGTGGGAAACGGGCTCGGAGAGAATAAATGAGCTGCCCTAAGCGACTGGGACAGAACCACAGTTCTCAGCCGGGCTTTCTGAGCCCACGCTGCCGCCCCAGCAGGGATCAAATCACACAGTGTGAGATAAGCCTCAAGAGCGGGTGGCCTTATGCTGCCACTGAGAACTGATTGGGTTCAGTTGCCTCATCAAAATCCCTAAGCATGGTTTTGTTTTGTTTTTGTTTTTTTTTTTTTTTTTAGTTTTAAAGGAAGAGGAGATTGACGGTTTTCCTCTTTCCTTATCTTCTCTTCAGATTACAAAGTTCATTGTTAATCTCAAATATTATTTTGGCCAACAGCTTCATCGCAGTAGGAATGGCAGCCCCATCTATGAAGGAAAGACAGGTCTGCTGGGGGGCCCGGGATGAGTACTGGAAGTGTTTAGATGAGAACTTAGAGGATGCTTCTCAATGCAAGAAGTTAAGAAGCTCTTTCGAATCAAGTTGTCCCCAACAGTGGGTAAGTCACACTTTGATGTGTTTCTCTTCCCTGTTAAGATACATCGAGCTTATACTGTGAGTGGTAGGCTGACATGAAGCGCTCTCTGAGGCATGTCAATTAACAGTTTCTTTGAGGCGCAGAGAAAACCTTGCCTGGTAATTCAGCCTTATTTGACGCACTTACATCAGCTAGATCTTTGGAGAATGTCAACTGACACATTAAAGAGCATCGAAAAACACAACAAACATATGAACAGTAACCAAAAAATTCCAGTTCATTTCACTGGTAGACTTTTCCAGGATCTTCTGAAGGGGTAGTATTTAATCTTGGGCAGGAGTTGGCAAAATTATTGACCTAGAGCTACTATCAGAAATAAAGCATTCCCAGTTGCTCACCCAAAAATCCTGTAAGTCATCATATACCCAAAATATAAAGAAAGGAGTTTGGTAAGCAGAAGAAAGAAAAGGTTCATATGGTGGATTCTGTCTCCCTGACAGGCATTCAAGCGCTGTATCCCCTGTCCTTAGTATAAGGGGGGATTGGAAAGAGGACTATTACTGAGGTTAGTAAGTGGCCATGTGTGCTAAGTGCTTGACATTTTCATCTTCACCAGTACCTGTTAAGATAGGTGTTGTTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAATAGCTGGGCATGGTGGCACATGCCTCTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGACCTGGGAGGTGGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGGCCACAGAGCGAGACGTTGTTATTCTCTATCTCCAGAGGAGGCAGCTGAAGCTCAGAGCATTGAAGTAACTCGCTTGTTATTACTCAGCAAGTGGCAAAACTGTAATTTTAAGGCAGGCCTAACTGGCTGGTGTGGGATTTGAACTTGGATTTGCCTGTGCTTTTTCACTGTCTTATGCTGCTGCAAAATATACCATGTAGTTGGAAAACAGATACTTTTAGAGTTGAAGTGGTTTTAGGGGTTTTGCCCTCTCATACCTCAAACCTTTAAAAGGCTCTGAAGGAGGCTACAAGAAGGCTGTGATGCAGGGAGGGGTCGTATTGGTGGCTGAGCTGGGGATGAACACAGTGAACAGAAATTACTTTATTTTTCTTTCTTTAATTTTTAGAGACAGGTTCTCAATCTGTCACCCTGGCTTGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCCTCAAGCAATCTTCCCGCCTAAACCTCCTGAGAAGCTGGCACTATGGGCATTTGCCACCATGCCTGGCTAATTTTTAAAATTATTTTGTAAAGACAGGATCTCACTATGTTGCCCAGGCTGGGCTCGAACTCCTGGGCTCAAGTGATCTTCCCACCTCGACCTCCCAAAGCACTGGGATTAACAGGCGTGAGTCACCACGTCTGGCCAGGCATTGCTTTAGATGAACTCTTCATCTGTAAAACCAGCCTGTTACAACCTATCTCGTGGGATTGTTATGACAACAAAATGCATAACTTGACATGTAAACTGAAAACTGATCAATGTGGGACTCTATGATTGAATTAGATAATGACTCCAGAAGAAAATATTATACATCTGTAGTTTTCCCATTAGACAGATGCATTGAGAGGAACTCCAGGTTTAAGGAGTTCCCCTTCGATCCCACTTTTATCCTCTCTCTCCTCCTGCAACCCACTGCTTTTTCTCCAGCCTGATGGCTCCCACTCCCACACTTCCGGGGCAGCTTCCAGTCTGTGTGCCAGAAAGGGTTTTTACAACCAGCCATTTGGTTCTTGATCGTATGTACATCTCTCTCACTCA
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TTAGTGAGAAAGTCCTGTTAAAATTACCCAATATGACCAGGCATTTTTTTTCTTTGTAATTCTGTCACTTCACTTTGTTTCATATGTATTTTTCATTAGGTACTTATAAATTTTAAATTTAAAACACATTTCCTTTTTAGACTCAGAAGTCATCTAAGACTCTTTCCTTTCATTCCTTTTATATCCCATCAGTCATATTTAAAAGATATCTATATGTAAACTGACGTCAATAGACATGATGTAAAAGAAGGGGGTGGCTCTGGTAAAGCTAAAGTAACTCCACTATGAGAGTGCATTAACTATGGGGGAAATACTTTCTATATTGCAGAACACATATTTGGTGGTACGTAGCCTCACATCGCCACCCGGAAAAGTCTGCATATATTGAATTTGGAATGGATCAAACTGCACTGAGTGCAAAATTGTAAATTGCATCTTATATAAATGTTTTAGAACTAGATGATGGAGCAGATGGGATCTATTAAGAGAACGGGGTGCCAGATGACTGACCATAAACATGCTTTTTAATAAAGACTCTGCTGAGAGATTAACTCATATATTTTCTAAAATTTTTATTTCTTGTTCATTTTGTTTCTAAGATATTCACTCACATATTAAAAATAACAACGTCTCAAAACATTTGAAGCAACTCTCTTCATCCCTTTTAAAAATACCTTGCTGTTTCGGGGGTTAAAAAAAGCCACAAGGGAGATTAAAACAATACAAATATTTATTTTCCCAACTCCCCTGCCATGGGTTCTGGGACGTCACCGCCTCTTTCTGGGGCCCGTTTCATCCTTTTCTTTTAATCCAAGAAGCGATGGTGTTGTGCGCCTGTAGTCCCAGCTACCTGGGAGGCAGGCTGAGGTGGGAGGATCTTTTGGGTCCAGGATTTTGAGGCTGCAGTAAGCCGTGTTCTCACCACTGCACTCGAGACTGGGCGGAAGAGCGAGACACTGTATCAAAAACAAAACAAAACAAAACGAGAAGGCATCGCGGCTCTGTAACACTCCGTCCAGCTCTCGCACTCTCAGATGCAAACTTCCACACAAACTCCTCGGCTCGCCTTGTCCCGCGGGACTAGCATATCAAGCCTTCCGGGACACACCGTGCGATGATATATACGTATATACCCCTCTTGCCCTTGAAGGCCGGAAGTCGGTCTTACAGATAAAAGCGAAACAGGAAGTCCCGCCCCTCTATGGAAAGTAAATGGTAGCTCGGAAGGGTCAAAAGAGTCCGCGGTTTCGCCGCGTGAGTTGCTTTTTGCGGCTGGGGAGGTCTACGCTTCTAGAGCTTGAGCCAGCGGGGCGACCCTGCAGTGGCAGGACTCGGCACCGCGCCCTCCACCGCCGGTTGGTGGCCTGCGTGACAGTTTCCTCCCGTCGACATCGAAAGGAAGCCGGACGTGGGCGGGCAGAGAGGTCGGCTTGCTGATGGGTCCGGGTGGGGCGCGCGTGGACTATGGGCCCGGGAGGTCCCTTACTGTCCCCGAGCCGCGGGTTCCTCTTGTGCAAAACGGGGTGGCACTCCAATCGCCTGCTTGGTGATTGTGGCCCCCACACACCTGTTTCTACAGCGCTTAGGTTCGAACAGTAACCCTGTAAACTAGGCACTGCTGTCCCCGCTTTACTGGTGGGAAACGGGCTCGGAGAGAATAAATGAGCTGCCCTAAGCGACTGGGACAGAACCACAGTTCTCAGCCGGGCTTTCTGAGCCCACGCTGCCGCCCCAGCAGGGATCAAATCACACAGTGTGAGATAAGCCTCAAGAGCGGGTGGCCTTATGCTGCCACTGAGAACTGATTGGGTTCAGTTGCCTCATCAAAATCCCTAAGCATGGTTTTGTTTTGTTTTTGTTTTTTTTTTTTTTTTTAGTTTTAAAGGAAGAGGAGATTGACGGTTTTCCTCTTTCCTTATCTTCTCTTCAGATTACAAAGTTCATTGTTAATCTCAAATATTATTTTGGCCAACAGCTTCATCGCAGTAGGAATGGCAGCCCCATCTATGAAGGAAAGACAGGTCTGCTGGGGGGCCCGGGATGAGTACCGGAAGTGTTTAGATGAGAACTTAGAGGATGCTTCTCAATGCAAGAAGTTAAGAAGCTCTTTCGAATCAAGTTGTCCCCAACAGTGGGTAAGTCACACTTTGATGTGTTTCTCTTCCCTGTTAAGATACATCGAGCTTATACTGTGAGTGGTAGGCTGACATGAAGCGCTCTCTGAGGCATGTCAATTAACAGTTTCTTTGAGGCGCAGAGAAAACCTTGCCTGGTAATTCAGCCTTATTTGACGCACTTACATCAGCTAGATCTTTGGAGAATGTCAACTGACACATTAAAGAGCATCGAAAAACACAACAAACATATGAACAGTAACCAAAAAATTCCAGTTCATTTCACTGGTAGACTTTTCCAGGATCTTCTGAAGGGGTAGTATTTAATCTTGGGCAGGAGTTGGCAAAATTATTGACCTAGAGCTACTATCAGAAATAAAGCATTCCCAGTTGCTCACCCAAAAATCCTGTAAGTCATCATATACCCAAAATATAAAGAAAGGAGTTTGGTAAGCAGAAGAAAGAAAAGGTTCATATGGTGGATTCTGTCTCCCTGACAGGCATTCAAGCGCTGTATCCCCTGTCCTTAGTATAAGGGGGGATTGGAAAGAGGACTATTACTGAGGTTAGTAAGTGGCCATGTGTGCTAAGTGCTTGACATTTTCATCTTCACCAGTACCTGTTAAGATAGGTGTTGTTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAATAGCTGGGCATGGTGGCACATGCCTCTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGACCTGGGAGGTGGAGGTTGTAGTGAGCCAAGATCACGCCACTGCATTCCAGCCTGGGCCACAGAGCGAGACGTTGTTATTCTCTATCTCCAGAGGAGGCAGCTGAAGCTCAGAGCATTGAAGTAACTCGCTTGTTATTACTCAGCAAGTGGCAAAACTGTAATTTTAAGGCAGGCCTAACTGGCTGGTGTGGGATTTGAACTTGGATTTGCCTGTGCTTTTTCACTGTCTTATGCTGCTGCAAAATATACCATGTAGTTGGAAAACAGATACTTTTAGAGTTGAAGTGGTTTTAGGGGTTTTGCCCTCTCATACCTCAAACCTTTAAAAGGCTCTGAAGGAGGCTACAAGAAGGCTGTGATGCAGGGAGGGGTCGTATTGGTGGCTGAGCTGGGGATGAACACAGTGAACAGAAATTACTTTATTTTTCTTTCTTTAATTTTTAGAGACAGGTTCTCAATCTGTCACCCTGGCTTGAGTGTAGTGGCGTGATCATAGCTCACTGCAGCCTTGACCTCCTGGCCTCAAGCAATCTTCCCGCCTAAACCTCCTGAGAAGCTGGCACTATGGGCATTTGCCACCATGCCTGGCTAATTTTTAAAATTATTTTGTAAAGACAGGATCTCACTATGTTGCCCAGGCTGGGCTCGAACTCCTGGGCTCAAGTGATCTTCCCACCTCGACCTCCCAAAGCACTGGGATTAACAGGCGTGAGTCACCACGTCTGGCCAGGCATTGCTTTAGATGAACTCTTCATCTGTAAAACCAGCCTGTTACAACCTATCTCGTGGGATTGTTATGACAACAAAATGCATAACTTGACATGTAAACTGAAAACTGATCAATGTGGGACTCTATGATTGAATTAGATAATGACTCCAGAAGAAAATATTATACATCTGTAGTTTTCCCATTAGACAGATGCATTGAGAGGAACTCCAGGTTTAAGGAGTTCCCCTTCGATCCCACTTTTATCCTCTCTCTCCTCCTGCAACCCACTGCTTTTTCTCCAGCCTGATGGCTCCCACTCCCACACTTCCGGGGCAGCTTCCAGTCTGTGTGCCAGAAAGGGTTTTTACAACCAGCCATTTGGTTCTTGATCGTATGTACATCTCTCTCACTCA
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Task1_train_2883
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Here’s a variant in IRF2BP2 (interferon regulatory factor 2 binding protein 2) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Immunodeficiency, common variable, 14
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GACCATAAGAGCTGAATTCTTTACAAATGTCTTTATGGGCATGTAAAATTGACTCTGCATTTCTGCATGTGTGCATTCACATAAGAGAGACCAGTCTGCACTGAGTCATATATACTCCAACTTGAAAAAGTAAGTGTAACAACTGGTTAATCATGCAAGTCTGTTTGTAATATAACAATGACTGGTAAAACATGAATTCTCGCACAGTAGTAATAGGTGCACTCATTAAAAACACTACGGAAAAACACTGTATTTGGTGCAGTATCTGATTTTCAAGTGTTAGTAACTTGACCATTAAAAAATAGTTTTGAACAATTTAAAAAGGAAAGACAAACATATAACTAAAAAAGAATCCAAAGTTGGTAAAAATCTGTATTTTCAAATGTAAATAGAAGCTAGGCTGTGAACCATACACATAAATTGTAGACCTTGAAGCCATAATTCAGCCTAATTATAAGGCCAAGTTACAAACACCTGAACGTAAGGATTTAAAATAGTGTTCCTGTCAATGTTAAATCATAACAGCACAAAAGAAAAACCAGTATCACTGTGAGACAACTATTTCTAATAATTGATGATTTATTGGTTTTAAAAAAATCATTTTACTGATGCAAAATAGTGATCAAAAGAAATTAGTTTACAAAAAGACTTCTAAAAATATTTTGAGAGGTGGGGCCTGTCTATTATATAAAACCCTTAATTTCTTTAATTTCCACTAGTTTATCATTTTTTTCCAGAACAGTATTATTCACTTGGTATTTCAAACACATGTTAAGAAGGAAATTACAGGTTTCCTCCACCCACATTTGGGCTGTCACTGATATGCCCAAGGGCAGTCCTGGCAGCACCACGCGGCTGTTACTGTCATTGTACCATACTGTATTCAGCACTCACTAGAAACAGGGTATAGGTGATAGTATCAACAGCAATAGCACTACAGGTAAATGATAAACAAAACAAAACAGAAACAAAACCAATCCCACAATCTCCAAGTTCACCTGGACTGTAACTTCTCTTGCAACTCTTTCAAAATAAAGGACAACAGCAACAACAAACAGACCTCTAGGGTGTTTAAAAAGATGAAGTGGCGCTGCAGAGCTGGGCTCTGCTCAAAGATGGCAGTGCCATCTTGTACACACCACCATCCATTATAACCGCCTTCCATCACTGGAATTGTATCTTATGTAACCAACTAGCATGCAGCATTGTAATCTTACAACTGATCACGTGGACAGTGAACAGCGGTCAACTTTGTCTTAAAAAAAAAAAAACAAAAAACCCCAAAAGACCACACAATCCTGAAAATTTCCCAGCAGCACTCTCAGTCATCAGTATCTCAGGAACTGAACTTTTGAGCAAAATAGAGATTCAAAATCCACTTTCCTACTCCTCTGAGGACAATGTTTCAGGGTAAACTGGTGGTATTTCCCAGTGGCATGCCCACTTGACAACATGCCCGTTCGATCATTTCCTTTCCTTCTCCACCACTTGGCCTCCGGCCTGAGAAAGGGGCCAGCAATAAGGAATGACAGACAGTAAGGCAATCTTACAATGTCAGAAAATGTATTTGGCTTTTTTTTTCTTTTTAAAATAAGTGCATACAAATACAGCTAGAAGCATTTCTGATTTGCCAAGTGCTCTAAAAAAGCAGCGCAAGTCACAGCCTACATAGAACGGTAACTGTCACCAGGATAATAAAGCACAAAGATATGCTAATAACGTTAACAAAAGAAAAAAATGTCTTTATAAGTACATACCTTTTGTCGTCAAAAAAAATATAGAAACACAATGTATTCAAAAAAAATCAAAATTATACAGCCATGTTTATGAAGTCTACATTTCCCTTGTCTTGGATATATATATATATGGAGATATATATACAATTCAAGCAGTTTTAATTAAGGGTAATCATTGGGTTTTTCTGAAACCGGAAAAGTCACGAGTCTCTCTCTTTTTTCACTTTCACATCTCCAGCAAGGATGGTTGCAATTTCCCCTTGCATAAAGGCCCAGGGGACATTGGAGCCCACAAGAGGGCATTTTTCCCCACTGGGACAATAGACCTCTCCACTAGCTCCCTGCTGTTTGATGCTTTGTCTGGAGCAAGGGAAGCAGAACTTGTGCGAAGGGACGGACGGGCACTGCACAAAATGGGTGTCCTCCAGCCGCTCGTGGCAGAGGGTGCAGCACAGCGGGGCACTGGTTGCCAGAGAGGAGTCCGGGAGGCTGGCAGGGTGCACTGGCTCCAGTCCTCCTGTGTTGCCTGCTCCCTGGCCCCCCACCTCTCTGGGGCCCAGCCTTCTTTGGTTCATAGAGGACGGAGAGGGCGGACTGTTGCTATTCCTCCTGGTAGTGGAGTGAACCTGGTTGGCATCTTTTGAGGCATGACTGCCCCCTGCATTGTCTGCTACTAAGATCAGGGCTGCCATGGGGGACTGGCCATTCTGGGCCGCTTCAGGCGGTGTGGTCCGGTTGGAATGAGGTGAGGCAGTGGGTGGTGGCGGAGACACAAAAGAGGATGTAGGAGTCATGGGGATCTTGAGCCCCTCTGTGGATGTGGACAGCCACGGCTGGGCCTCTCCGTTGATCTTAGGGGGCCCGACTTCACCTTCTGGTTCTGGAGAGGGCTTCCTTTTCCTTGCTGTTCTTGCAACTGGAAACACAAAGAAATAAAAGGAAAAAGGTAACATAAGTGGCGGTGCACTGAAAGAGATCATTCTCTTCCTAACCCGAAACAAAAGTCGTTACAGAATTCCTCCTCTCTAAAAGCACAGACAGAAAATACTCATATACGAGTTTCAGGTGCACATGCAACTTAAAACCTTCAGGCGTACGGGATTCTGAGGCAGCAGACTGATTTAAAATGGAGCCACTGAAAATGACACGCTTGTAACTGCCTGTTTGTACACATGCACAAAAGTACCCTCGTTTGCACTCAACATGTGACTGCTAATGTCCCCCAATAGGTTAAAAGGTGACTGGTGCCCTCATGCTCCCATCCAAGAATGTGCTGGGAAAGGAAAACCCCGTGTCAGAGCGTATCAGCCCAGTCTGACTCATCTCTGTTATGCTGCTTCAGCACATGAACACGTTGCCACCAAGCACTGGTTCCGCCTCAGGCAGATCAGGAAGTGGGGTGTTTGTTGTTTCTGGGCTGGGGTAAAATGGTGAATCCAAAGAACCACCCTTCCTCTGCTCTCCGTCCCCTTTTCTCCCCTAGACCCCCTCACTTCACAGCCGCCCCTACCTGCTTTAGACCCGTTGGCCCCGTTGGCCTCGAAACCCAACAACCTGCCTGCAGTCAGGGCCGGCTCCTTCTTAAACTTGCTCTCGAAGGGCCCCGAGTGGCCGTGCTGGTGCAGCGCCAGCAGCGTGTCGCGCACGGTCTTGGGCCTGTTGACCCAGTCCTGCTCTCCAGACCCGCGGCTCTTGCCCGCACCTTCCGCGCTCAGCTCGGCGGCCCCGGCCGCGGTGGACAGGCTGTCGGCCGGGCCCCGGTGCGCAGGCGGCGGCGGTTGTTTCTCCTTGGCTGCCGCCTCACGCTGCTCGTGCTCCACGGCAGCGCTGCTCGACACGGATGCCGGCCGCTTGTGGGCGCCCAGATCGGTGGGCTGCGCGGAGCCCAGGCTGGCGGCCGCGGTTCCGGACACCGCGGCTAAGGAGGCGGCAGCGCGGCCGCCGAGGCCGAGCGCGGTGGGCAGCGGCGTGGCCGAGCCGTTCATGAGCGGCACCAGGGTGGGCGGCACCGCGTGGCCGCGCCGCGGGTTCGGGCTCTGGCGATTCAGCTCGGGCGGCTCCTCTAGCTTGGAGAAGCCGTTGGGCACCAGGATGCCGTTCACGGGCGGCGGCTGCGGCGTCGGCGGCTGGGCCAGGCTCGCTGCCGGGCGGCTGCTGCCGAAGTCAGAGCCGAGGCGCGGGGGCCTCTCGGCCGCGGCCGCCAACGGGTAGCGCTCCAAGGCCTGCGGCGCGCGCGGGGCCGCCTCGGGGCCGCCGTGGCCAAGCTGCTGCTGCTGCTGCAAAAGGATGTCCTTGGCGGAGAGCGGCGGCGGCTTGGCGGCGGCCGAGGCCGCGGCGCCGGGTGGGGAGCGACCCTCCGG
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GACCATAAGAGCTGAATTCTTTACAAATGTCTTTATGGGCATGTAAAATTGACTCTGCATTTCTGCATGTGTGCATTCACATAAGAGAGACCAGTCTGCACTGAGTCATATATACTCCAACTTGAAAAAGTAAGTGTAACAACTGGTTAATCATGCAAGTCTGTTTGTAATATAACAATGACTGGTAAAACATGAATTCTCGCACAGTAGTAATAGGTGCACTCATTAAAAACACTACGGAAAAACACTGTATTTGGTGCAGTATCTGATTTTCAAGTGTTAGTAACTTGACCATTAAAAAATAGTTTTGAACAATTTAAAAAGGAAAGACAAACATATAACTAAAAAAGAATCCAAAGTTGGTAAAAATCTGTATTTTCAAATGTAAATAGAAGCTAGGCTGTGAACCATACACATAAATTGTAGACCTTGAAGCCATAATTCAGCCTAATTATAAGGCCAAGTTACAAACACCTGAACGTAAGGATTTAAAATAGTGTTCCTGTCAATGTTAAATCATAACAGCACAAAAGAAAAACCAGTATCACTGTGAGACAACTATTTCTAATAATTGATGATTTATTGGTTTTAAAAAAATCATTTTACTGATGCAAAATAGTGATCAAAAGAAATTAGTTTACAAAAAGACTTCTAAAAATATTTTGAGAGGTGGGGCCTGTCTATTATATAAAACCCTTAATTTCTTTAATTTCCACTAGTTTATCATTTTTTTCCAGAACAGTATTATTCACTTGGTATTTCAAACACATGTTAAGAAGGAAATTACAGGTTTCCTCCACCCACATTTGGGCTGTCACTGATATGCCCAAGGGCAGTCCTGGCAGCACCACGCGGCTGTTACTGTCATTGTACCATACTGTATTCAGCACTCACTAGAAACAGGGTATAGGTGATAGTATCAACAGCAATAGCACTACAGGTAAATGATAAACAAAACAAAACAGAAACAAAACCAATCCCACAATCTCCAAGTTCACCTGGACTGTAACTTCTCTTGCAACTCTTTCAAAATAAAGGACAACAGCAACAACAAACAGACCTCTAGGGTGTTTAAAAAGATGAAGTGGCGCTGCAGAGCTGGGCTCTGCTCAAAGATGGCAGTGCCATCTTGTACACACCACCATCCATTATAACCGCCTTCCATCACTGGAATTGTATCTTATGTAACCAACTAGCATGCAGCATTGTAATCTTACAACTGATCACGTGGACAGTGAACAGCGGTCAACTTTGTCTTAAAAAAAAAAAAACAAAAAACCCCAAAAGACCACACAATCCTGAAAATTTCCCAGCAGCACTCTCAGTCATCAGTATCTCAGGAACTGAACTTTTGAGCAAAATAGAGATTCAAAATCCACTTTCCTACTCCTCTGAGGACAATGTTTCAGGGTAAACTGGTGGTATTTCCCAGTGGCATGCCCACTTGACAACATGCCCGTTCGATCATTTCCTTTCCTTCTCCACCACTTGGCCTCCGGCCTGAGAAAGGGGCCAGCAATAAGGAATGACAGACAGTAAGGCAATCTTACAATGTCAGAAAATGTATTTGGCTTTTTTTTTCTTTTTAAAATAAGTGCATACAAATACAGCTAGAAGCATTTCTGATTTGCCAAGTGCTCTAAAAAAGCAGCGCAAGTCACAGCCTACATAGAACGGTAACTGTCACCAGGATAATAAAGCACAAAGATATGCTAATAACGTTAACAAAAGAAAAAAATGTCTTTATAAGTACATACCTTTTGTCGTCAAAAAAAATATAGAAACACAATGTATTCAAAAAAAATCAAAATTATACAGCCATGTTTATGAAGTCTACATTTCCCTTGTCTTGGATATATATATATATGGAGATATATATACAATTCAAGCAGTTTTAATTAAGGGTAATCATTGGGTTTTTCTGAAACCGGAAAAGTCACGAGTCTCTCTCTTTTTTCACTTTCACATCTCCAGCAAGGATGGTTGCAATTTCCCCTTGCATAAAGGCCCAGGGGACATTGGAGCCCACAAGAGGGCATTTTTCCCCATTGGGACAATAGACCTCTCCACTAGCTCCCTGCTGTTTGATGCTTTGTCTGGAGCAAGGGAAGCAGAACTTGTGCGAAGGGACGGACGGGCACTGCACAAAATGGGTGTCCTCCAGCCGCTCGTGGCAGAGGGTGCAGCACAGCGGGGCACTGGTTGCCAGAGAGGAGTCCGGGAGGCTGGCAGGGTGCACTGGCTCCAGTCCTCCTGTGTTGCCTGCTCCCTGGCCCCCCACCTCTCTGGGGCCCAGCCTTCTTTGGTTCATAGAGGACGGAGAGGGCGGACTGTTGCTATTCCTCCTGGTAGTGGAGTGAACCTGGTTGGCATCTTTTGAGGCATGACTGCCCCCTGCATTGTCTGCTACTAAGATCAGGGCTGCCATGGGGGACTGGCCATTCTGGGCCGCTTCAGGCGGTGTGGTCCGGTTGGAATGAGGTGAGGCAGTGGGTGGTGGCGGAGACACAAAAGAGGATGTAGGAGTCATGGGGATCTTGAGCCCCTCTGTGGATGTGGACAGCCACGGCTGGGCCTCTCCGTTGATCTTAGGGGGCCCGACTTCACCTTCTGGTTCTGGAGAGGGCTTCCTTTTCCTTGCTGTTCTTGCAACTGGAAACACAAAGAAATAAAAGGAAAAAGGTAACATAAGTGGCGGTGCACTGAAAGAGATCATTCTCTTCCTAACCCGAAACAAAAGTCGTTACAGAATTCCTCCTCTCTAAAAGCACAGACAGAAAATACTCATATACGAGTTTCAGGTGCACATGCAACTTAAAACCTTCAGGCGTACGGGATTCTGAGGCAGCAGACTGATTTAAAATGGAGCCACTGAAAATGACACGCTTGTAACTGCCTGTTTGTACACATGCACAAAAGTACCCTCGTTTGCACTCAACATGTGACTGCTAATGTCCCCCAATAGGTTAAAAGGTGACTGGTGCCCTCATGCTCCCATCCAAGAATGTGCTGGGAAAGGAAAACCCCGTGTCAGAGCGTATCAGCCCAGTCTGACTCATCTCTGTTATGCTGCTTCAGCACATGAACACGTTGCCACCAAGCACTGGTTCCGCCTCAGGCAGATCAGGAAGTGGGGTGTTTGTTGTTTCTGGGCTGGGGTAAAATGGTGAATCCAAAGAACCACCCTTCCTCTGCTCTCCGTCCCCTTTTCTCCCCTAGACCCCCTCACTTCACAGCCGCCCCTACCTGCTTTAGACCCGTTGGCCCCGTTGGCCTCGAAACCCAACAACCTGCCTGCAGTCAGGGCCGGCTCCTTCTTAAACTTGCTCTCGAAGGGCCCCGAGTGGCCGTGCTGGTGCAGCGCCAGCAGCGTGTCGCGCACGGTCTTGGGCCTGTTGACCCAGTCCTGCTCTCCAGACCCGCGGCTCTTGCCCGCACCTTCCGCGCTCAGCTCGGCGGCCCCGGCCGCGGTGGACAGGCTGTCGGCCGGGCCCCGGTGCGCAGGCGGCGGCGGTTGTTTCTCCTTGGCTGCCGCCTCACGCTGCTCGTGCTCCACGGCAGCGCTGCTCGACACGGATGCCGGCCGCTTGTGGGCGCCCAGATCGGTGGGCTGCGCGGAGCCCAGGCTGGCGGCCGCGGTTCCGGACACCGCGGCTAAGGAGGCGGCAGCGCGGCCGCCGAGGCCGAGCGCGGTGGGCAGCGGCGTGGCCGAGCCGTTCATGAGCGGCACCAGGGTGGGCGGCACCGCGTGGCCGCGCCGCGGGTTCGGGCTCTGGCGATTCAGCTCGGGCGGCTCCTCTAGCTTGGAGAAGCCGTTGGGCACCAGGATGCCGTTCACGGGCGGCGGCTGCGGCGTCGGCGGCTGGGCCAGGCTCGCTGCCGGGCGGCTGCTGCCGAAGTCAGAGCCGAGGCGCGGGGGCCTCTCGGCCGCGGCCGCCAACGGGTAGCGCTCCAAGGCCTGCGGCGCGCGCGGGGCCGCCTCGGGGCCGCCGTGGCCAAGCTGCTGCTGCTGCTGCAAAAGGATGTCCTTGGCGGAGAGCGGCGGCGGCTTGGCGGCGGCCGAGGCCGCGGCGCCGGGTGGGGAGCGACCCTCCGG
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Task1_train_2884
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This sequence change occurs on Chromosome 1, altering GGPS1 (geranylgeranyl diphosphate synthase 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; not provided
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GGCCCAGACTTAGAAAAAAAGGATCAGGCCGGGCACAGTAGCTAACACCTGCAATTCCAACACTTTGGGAGGCTGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATTCAAAAAATTAGCTGGGCGTGGTGGCAAGAACCTGTAATCCCTGCTATTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACGAGCAAAACTCCGTCTCAAAAAAAAAAAACAAAAGGACCTTTGAGCAATCAGAATAACACAAAGTACATGAACTGAACTTCATTTTCTTCATTCAAAAGAAAGTGGCCCTCACTCAAGCAAATATATTCTTGTGCTTTATCTTCTGGCATACTGAGATAACTTTCTAAAGTGGTTTCCAATTCCAAAATCCAATGATGTGCAACTCATTGAACAGCCCTAACCACAAACTGCCATTAGATGCCATATTACATTTAGCCTTTTTGTTGTAGAAAAGTTGGTTAGAAGTGGGCTCAGGATTCTAAAGACTAAATCATAGTCCCAAGAAGCAAAAGAAAGAGGATAAAAGTAATAAACTTCCCAAAATGTGCCAAAGATGCTAGAGCAGTTAGATTCCTAATATGAGGACAAGTAATAATAGAAACAGATACAAAGAAATAAAGTAGAGATTCAACAGTACAGGGAGACCCTAGGAAGACCATGAGTGTTATTCTAGGAAATACTGAAATAAGACAGATTTCAGTATAAAGGGGAATATGTTTAATAAATATATGCATTTGAGTTAATGCGTATTTTAAATCAGAAATCTCTGAAATGGATTGATTGTAGAGAAACTACTAGGGGGACGAGGAGAATCCCTTTAAATTTTAAATACATAAAACATACTCATCTTAGTGCTCATTTAAAAAAGGATATGTTTACTAATTAGTGTAATCAGTTAAATACAGAGGTATCTTTCCAATTCTTTGGATGTGTTTTGACATTTGCCGTCAACAAATTAAGCCTTTTGTGGTTGATTAAAATAGGAAAAGCTTAATATAAGTTATGTGACTAAGAAAACAACTTAAAAACCAAGACAACACTTTGACCAATATAATCACTTGAATGAAGAATTTTCTAATTGAGATATAATTTACATACCACCCATTTAAAGTGTACATTTCAGCAGTTTTTAGTGTATTCACAGGGCTGTGCAACCATCACAATTTAATTTTATAACATTTTGATCCCTGCGAAAAGAAACCCTGTACTCATTAGCAATTAGTCCCTGTTCCTAACCACTAATCTACTTTCTTTCTCTGTAGATTGGCTTATTCTGAACATTTCGTATAAATGGAATCATACAATATGTAGTCTCTTGAGATTGGCTTCTTTCACTTAACATGTTTTCAAGGCTTCATAGCTGTAGAATCTTGCTTTGTTTTTTTGAGACTGGAGTCACTCTTTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCCAGAACTACAGGCACACACCACCATGCTCGGCTAATCTTTGTAGTTTTAGTAGAGATGGTGTGAAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCCACCTCAGCTAATTTTTCATATTTTTAGTAGAGACAAGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCTATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACTACCGTGCCCAGCAACAGAATCTTCTTTTTAAACCAGACTAGGTGTCTTTTCACAAACACCCTGCAATACAAATTCCTTTGCAGTTTGACACTGAAAGATGATTAGTTTCATGTGATCTTTATGTTTCTCCTTTTTGACAGATTAGCTTTGAAGTTTAAATCCAATGGAGAAGACTCAAGAAACAGTCCAAAGAATTCTTCTAGAACCCTATAAATACTTACTTCAGTTACCAGGTAATACTTCACTTACAGTCCATATAGGGTCATTTTCATGCAGTAGTGGTCGTTCAAATGTTAGCAAATAGAAAAGGTTAGACTTGCTAGCCGTTGAGATTTTCTATTTAAGGTGATGCGTATGAGAAAAATGATAAATAGAACATTATAATTTTTTCTTTATTAAAAGGTAATTTTTGCCAGGTGCAGTGATACATACCTGTTGTCCCACCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGAGTTTAAGGCTATAGTGCACAATGATCACACCTGTGAATAGCCACTACACTCCAGCTTGGGCAACATAGTGAGACCCCGTCTCTTAAAAAGAAACGTAATTTTTGAAGGCACCCTTTAAAACATATCCAATTATTTAACATATCTTGAAAAATAAAAATACTTAAAACATTTTGGTATCTCATTGGAGGTTGTACTCTTTACGGATATTACGCATTCAGATTCCCCACTGTTTAGATATTAGGGGAAGTTACGCAGATTTGTTTAACAGTAGAACACTTTATTTACCATACATGTTCAAGTTTACCTTCTATGTCTGTATTTTCCAGTATCTCACACATACACTGCATTTCATATACTACTGGTTCCTTTGAGAGCCAAATAATAATGTATCTAAAATCACAGTATTTGGAAATATAGCCCACTTTATTCCTGTATAAGGGTATGCCACCTTGGACATGGCTTCCTACCTCACGTGTACGTGTGTGTTTTTGTTTTATTTTGCTTCTTTAAAAACTTGTCTGGAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTTGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGGTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAACACAAAAGTTAGCTGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAACCTGGAAGGCAGAGGTTGCAGTGAGCTGAGATTGCATCACTGCACTCCAGCCTGGCAACAGAATGAGACTCCGACTCAAAAAAAAAGAAGAACTTGTCTGGAAATGATAATAAGCAAAAACTCATGAATATAATAAACAGGGGTTATTGTAATAAAAAATCATTTGTATTAGAATATTCTTTCTCATAGACATAATATAGGCCAGGTGTGGTGGCCCACACCTGTATTCCCAGCACTTTGGGAAGCCAAGGCAGGATTGCTTGAGACCAAAAGTTTGAGACCACCTTGGGCAACATAACAAGTCCCCCTCTCTGTTTTAAACATTTTTTAAAAAAGAAGAAATAATATAAAAGTTGGTAAATTATTTGACAAGCATAAAAACCTATTTAGCCATACTGTGACTAAACTCTAATGATGCTCTCAATTCAGTCTCAATAGACACTTTTAAATTTCCGTGCTAAAGTACACACCTTTCTTTATGAGCACTTCTCTGTGGTAATATGTGCATTTCTGTTCTTCATGAGCCTGGGAAGGATAAAAGCCAAAAGAATGCTTGCTCCTGTGCTACACCTTGGAAACCATAATTAGTGTCATTTTTATTTTGGCCGACCCTAATAGAGACTCGCCTGCTAATGTCAATGCATGAGAAGAATGAGGGAATGACAGAAATGGAGAATTCAAAGGGAAGGTTGCCCACTGTTTAAGAAAAAGCCAAGAGACTGCTTTTGAGTGACATTTATCCAGCAGTTAGTAACTTATTTCAGTATCTCCCAGTGAGAAACATGGCACAGTTTCACTTTCACTCTACCCAGCTCTTACTGCCAGACATCCTTTAGAACACGCTCACAAACACTAGCTGGAACTGGGCTGGCATTAATAGCAAGCCAGTTATCAGTGCTGACAAAAGTCTAACAAGCATCGCTTGAATGTCTCTTACTCTGCTACTTACAAAGCAAGGACTGCCTACAGTTACATTTTAACCATAATGCTTACTTATGCTGTGACCACCTTCTGTGACTTCCTTTTTTTTAATTCTCATTAC
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GGCCCAGACTTAGAAAAAAAGGATCAGGCCGGGCACAGTAGCTAACACCTGCAATTCCAACACTTTGGGAGGCTGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATTCAAAAAATTAGCTGGGCGTGGTGGCAAGAACCTGTAATCCCTGCTATTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCAACGAGCAAAACTCCGTCTCAAAAAAAAAAAACAAAAGGACCTTTGAGCAATCAGAATAACACAAAGTACATGAACTGAACTTCATTTTCTTCATTCAAAAGAAAGTGGCCCTCACTCAAGCAAATATATTCTTGTGCTTTATCTTCTGGCATACTGAGATAACTTTCTAAAGTGGTTTCCAATTCCAAAATCCAATGATGTGCAACTCATTGAACAGCCCTAACCACAAACTGCCATTAGATGCCATATTACATTTAGCCTTTTTGTTGTAGAAAAGTTGGTTAGAAGTGGGCTCAGGATTCTAAAGACTAAATCATAGTCCCAAGAAGCAAAAGAAAGAGGATAAAAGTAATAAACTTCCCAAAATGTGCCAAAGATGCTAGAGCAGTTAGATTCCTAATATGAGGACAAGTAATAATAGAAACAGATACAAAGAAATAAAGTAGAGATTCAACAGTACAGGGAGACCCTAGGAAGACCATGAGTGTTATTCTAGGAAATACTGAAATAAGACAGATTTCAGTATAAAGGGGAATATGTTTAATAAATATATGCATTTGAGTTAATGCGTATTTTAAATCAGAAATCTCTGAAATGGATTGATTGTAGAGAAACTACTAGGGGGACGAGGAGAATCCCTTTAAATTTTAAATACATAAAACATACTCATCTTAGTGCTCATTTAAAAAAGGATATGTTTACTAATTAGTGTAATCAGTTAAATACAGAGGTATCTTTCCAATTCTTTGGATGTGTTTTGACATTTGCCGTCAACAAATTAAGCCTTTTGTGGTTGATTAAAATAGGAAAAGCTTAATATAAGTTATGTGACTAAGAAAACAACTTAAAAACCAAGACAACACTTTGACCAATATAATCACTTGAATGAAGAATTTTCTAATTGAGATATAATTTACATACCACCCATTTAAAGTGTACATTTCAGCAGTTTTTAGTGTATTCACAGGGCTGTGCAACCATCACAATTTAATTTTATAACATTTTGATCCCTGCGAAAAGAAACCCTGTACTCATTAGCAATTAGTCCCTGTTCCTAACCACTAATCTACTTTCTTTCTCTGTAGATTGGCTTATTCTGAACATTTCGTATAAATGGAATCATACAATATGTAGTCTCTTGAGATTGGCTTCTTTCACTTAACATGTTTTCAAGGCTTCATAGCTGTAGAATCTTGCTTTGTTTTTTTGAGACTGGAGTCACTCTTTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAGTAGCCAGAACTACAGGCACACACCACCATGCTCGGCTAATCTTTGTAGTTTTAGTAGAGATGGTGTGAAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCCACCTCAGCTAATTTTTCATATTTTTAGTAGAGACAAGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCTATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACTACCGTGCCCAGCAACAGAATCTTCTTTTTAAACCAGACTAGGTGTCTTTTCACAAACACCCTGCAATACAAATTCCTTTGCAGTTTGACACTGAAAGATGATTAGTTTCATGTGATCTTTATGTTTCTCCTTTTTGACAGATTAGCTTTGAAGTTTAAATCCAATGGAGAAGACTCAAGAAACAGTCCAAAGAATTCTTCTAGAATCCTATAAATACTTACTTCAGTTACCAGGTAATACTTCACTTACAGTCCATATAGGGTCATTTTCATGCAGTAGTGGTCGTTCAAATGTTAGCAAATAGAAAAGGTTAGACTTGCTAGCCGTTGAGATTTTCTATTTAAGGTGATGCGTATGAGAAAAATGATAAATAGAACATTATAATTTTTTCTTTATTAAAAGGTAATTTTTGCCAGGTGCAGTGATACATACCTGTTGTCCCACCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGAGTTTAAGGCTATAGTGCACAATGATCACACCTGTGAATAGCCACTACACTCCAGCTTGGGCAACATAGTGAGACCCCGTCTCTTAAAAAGAAACGTAATTTTTGAAGGCACCCTTTAAAACATATCCAATTATTTAACATATCTTGAAAAATAAAAATACTTAAAACATTTTGGTATCTCATTGGAGGTTGTACTCTTTACGGATATTACGCATTCAGATTCCCCACTGTTTAGATATTAGGGGAAGTTACGCAGATTTGTTTAACAGTAGAACACTTTATTTACCATACATGTTCAAGTTTACCTTCTATGTCTGTATTTTCCAGTATCTCACACATACACTGCATTTCATATACTACTGGTTCCTTTGAGAGCCAAATAATAATGTATCTAAAATCACAGTATTTGGAAATATAGCCCACTTTATTCCTGTATAAGGGTATGCCACCTTGGACATGGCTTCCTACCTCACGTGTACGTGTGTGTTTTTGTTTTATTTTGCTTCTTTAAAAACTTGTCTGGAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTTGAGGCCAAGGCGGGCGGATCATGAGGTCAAGAGGTTGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAACACAAAAGTTAGCTGGGCATGGTGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACCTGAACCTGGAAGGCAGAGGTTGCAGTGAGCTGAGATTGCATCACTGCACTCCAGCCTGGCAACAGAATGAGACTCCGACTCAAAAAAAAAGAAGAACTTGTCTGGAAATGATAATAAGCAAAAACTCATGAATATAATAAACAGGGGTTATTGTAATAAAAAATCATTTGTATTAGAATATTCTTTCTCATAGACATAATATAGGCCAGGTGTGGTGGCCCACACCTGTATTCCCAGCACTTTGGGAAGCCAAGGCAGGATTGCTTGAGACCAAAAGTTTGAGACCACCTTGGGCAACATAACAAGTCCCCCTCTCTGTTTTAAACATTTTTTAAAAAAGAAGAAATAATATAAAAGTTGGTAAATTATTTGACAAGCATAAAAACCTATTTAGCCATACTGTGACTAAACTCTAATGATGCTCTCAATTCAGTCTCAATAGACACTTTTAAATTTCCGTGCTAAAGTACACACCTTTCTTTATGAGCACTTCTCTGTGGTAATATGTGCATTTCTGTTCTTCATGAGCCTGGGAAGGATAAAAGCCAAAAGAATGCTTGCTCCTGTGCTACACCTTGGAAACCATAATTAGTGTCATTTTTATTTTGGCCGACCCTAATAGAGACTCGCCTGCTAATGTCAATGCATGAGAAGAATGAGGGAATGACAGAAATGGAGAATTCAAAGGGAAGGTTGCCCACTGTTTAAGAAAAAGCCAAGAGACTGCTTTTGAGTGACATTTATCCAGCAGTTAGTAACTTATTTCAGTATCTCCCAGTGAGAAACATGGCACAGTTTCACTTTCACTCTACCCAGCTCTTACTGCCAGACATCCTTTAGAACACGCTCACAAACACTAGCTGGAACTGGGCTGGCATTAATAGCAAGCCAGTTATCAGTGCTGACAAAAGTCTAACAAGCATCGCTTGAATGTCTCTTACTCTGCTACTTACAAAGCAAGGACTGCCTACAGTTACATTTTAACCATAATGCTTACTTATGCTGTGACCACCTTCTGTGACTTCCTTTTTTTTAATTCTCATTAC
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Task1_train_2885
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A variant on Chromosome 1 in gene GGPS1 (geranylgeranyl diphosphate synthase 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; Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
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GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATACACTCGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGTAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGT
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GTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATGCACTCGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGTAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGT
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Task1_train_2886
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The following genetic variant occurs in GGPS1 (geranylgeranyl diphosphate synthase 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
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AGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATACACTCGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGTAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCC
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AGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATACACTGGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGTAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCC
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Task1_train_2887
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The gene GGPS1 (geranylgeranyl diphosphate synthase 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
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GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATACACTCGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGTAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCT
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GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACAAGAAAGAAAAAAAGAAGATACTGAAAAATAGATGTCCCTAGTCAAAATAATGAGATTAGCTTTTGACTAAACTCAGGATATTAAAAGGGAATACTTCAGTGCATGATGATCTCATTTTTGAAAGGAAAGAAGCAGAGCTTCCCCATCTCTAAAACCTTAATTCAAAGGAGAAATAGATAATTTCAAGAGGTATTTTTATGAGGTAATAGTAAAATATATTTTATTAACAGTACCTATAGTTATGTAAAATAGGTAGTGCCAATTAACTGACACTAAACTAGCTTCTTGGCCTGGCGCAGTGGCTCACGCCTGTAATCCAAACACTTTGGGAGGCCGATGCGGGTGTATCGCTTGGGCTCAGGAATTCAAGGCCAGCCTGGGCAACATATTAAAACCCCCTTTCTATAAAATATACAAAAATTAGCCAGGCATGGTGTGTGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGCACGAGAATCATGTGAACCCAGGAGGTGGAGTTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAAACTCTGTCTCAAATAATTAATAAATAAACTAGCTTCCTTTTCAAAAAAAGAAATAAATTAGGTCCTAAGTCCTAAAAGCCCATCCTACTTTAAAATTGTTTATTCAAGTTCAGATGAAAAGAGTGGACTAGTAGGCAACTGAAGTGCTTTAGAGTCTCCCGTGCCTGCCCTAATTTTAGAAGGTTGTGCACTTTATGATCCAGATTTCTGAGTGGTTGAGAATGAGTTATTGAGCAGTGCAAGGCAAGCTCTGCAGTAGGTAATGGATTGATGAGGCTGGATTTAGCAAGTCTGATCAATCTAAAGGAAGTTTCTGAATGTGTTTTTTGTAGTTAAAATACTCATAATTAAAACACTTATCACATTGTCACATTTTATTTTTAAATTGCAGGTAAACAAGTGAGAACCAAACTTTCACAGGCATTTAATCATTGGCTGAAAGTTCCAGAGGACAAGCTACAGGTATTAGGCAACTCTAACCTCATTAATCCCCAAGAAATTAATAGCTGTCGCATAAAAATATTCCTAGTTCTTGATTGAATTTAGTCCTCATGCAAGATATTATTTTATATTGAGGTTGCTAAATATTTATTAGTTGTGAAAATTAACACACCTGAGACTTTCATAATCTGTTAATTAAACTGAGTAAGTTTTGAATAGTTCAAATAAGTGAAATTTTCAATTTTTTTATTAGATTATTATTGAAGTGACAGAAATGTTGCATAATGCCAGTTTACTCATCGATGATATTGAAGACAACTCAAAACTCCGACGTGGCTTTCCAGTGGCCCACAGCATCTATGGAATCCCATCTGTCATCAATTCTGCCAATTACGTGTATTTCCTTGGCTTGGAGAAAGTCTTAACCCTTGATCACCCAGATGCAGTGAAGCTTTTTACCCGCCAGCTTTTGGAACTCCATCAGGGACAAGGCCTAGATATTTACTGGAGGGATAATTACACTTGTCCCACTGAAGAAGAATATAAAGCTATGGTGCTGCAGAAAACAGGTGGACTGTTTGGATTAGCAGTAGGTCTCATGCAGTTGTTCTCTGATTACAAAGAAGATTTAAAACCGCTACTTAATACACTTGGGCTCTTTTTCCAAATTAGGGATGATTATGCTAATCTACACTCCAAAGAATATAGTGAAAACAAAAGTTTTTGTGAAGATCTGACAGAGGGAAAGTTCTCATTTCCTACTATTCATGCTATTTGGTCAAGGCCTGAAAGCACCCAGGTGCAGAATATCTTGCGCCAGAGAACAGAAAACATAGATATAAAAAAATACTGTGTACATTATCTTGAGGATGTAGGTTCTTTTGAATACACTCGTAATACCCTTAAAGAGCTTGAAGCTAAAGCCTATAAACAGATTGATGCACGTGGTGGGAACCCTGAGCTAGGAGCCTTAGTAAAACACTTAAGTAAGATGTTCAAAGAAGAAAATGAATAATGTTAAGCCATTCTTGATTGGACCTCATAGCTTATTTTAGTTAATCTTTTTTTTGTCTTTTAGCCTTACCACCTTTTAAAAAATTTGTTATTCTCCAGAAACAGTAAATAGGTGAGTAGGGGTGGTGCAAGTGAATTCGTTTTCATTTAGAAGCCCCTCTGTACAGATAATCAAAATTCAAAGTTGAAAGAATCAAAAGCAGCCACAGTTATGTAGGTCTGATTTGAATGTCATAATTGCAGTGACAGGACATTGCCACCAACTCTATCCTACTACCATCAATGTTGTGTTTATTCCGTCAATAAAAAAGACTTGCTTCCAGGAATTTTTATCCATACACTTTCTAACTGTACTATCTGGGCAGTTCCAAGCCAGTTTCTATTAGCTAGCTGGACCAAAGACCACAAATCTCTTTTTTTCCTAAACGCTGCTGTAAGGAATATCTCACTTTTCCCCCCGGAAACACCCTCACTGAAGTCTTCTATGAAAAGGCTGATAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCTCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAGGGCTGATAATGATAAACAGTGAGCACTCCGGTCCTTTTTCTTAGGTTTTCCTTTTTTCCTTCCTCTCCACCCCACAAGTTTTGCTTTTTAACCAAGGTGTCTCTGCTTGATGAAATTCACATGCTAGTCTAAATCTTTTTTTCTCCCTTGTAACATTTATGTGCCCCAAACTGGTTAGTATATGGGTACAGCATTCCCTTTCCAATTGGGAAGCGGAAAAAGAGAGTATGGGATATTTTAGAAGGGAGCCTTTGAACCTTATTATATTTCCCCATCATTGATAGTGACAATCTTAAAAGGGTTGTTTTCTTACCTTAAGTACAAAAGCATGGAAAAATGCGCTTTTCCTTCCCGCCCACATCACCACCCCGACTTGAAGACAGTAGGTGCTTGAATGGAAAGTGAGTAGGCATCTTTAATCGCCCTGATTAAAGGAAAGTGTTAGCCTGAGAGGGCCTGACTGAAAAGTAACCAAAGGCTTAATATCAAACACTAATTAGCTTTTTAGTGCCTTAACCCTGACCTGGTTACCAGTTTTCTGTAGTTTCTACACCCAAGCCACTGAAGTCATCTGTGGCCCAAGAGGTAGGACAAAAAAAAAAAAAAAAAAAGCTGATTTCAATATTTGATTTGTTGACATCCCAAAATGAAAGTTTTATGTTTCCCTTAGAAACATGTTTTGCTTGGTTCTATAGTATGTTACTTAGGATCTATTTACCATATATTTGTATGAGAAATCCTCACCCAAGCATTCAACCTAAATCTTTGAAAAGTTGGGTGCTGTCTTTAGTAACTTTTAAAATAGTTTAAATCTCCCATTTTAATAGTGATAAGGAAACCTGTTAAAATCATGGCTATTGATGTTATAGTATGGAAAGTTGAACTTTATGAACCCATACTTTTAAAAAGCATTTTTAAAAATCTAACACTGACTATAGAAACAAATTAAAATGTCTACCTTTAAGTATAAAAATTGCTTAAGTAGATTTGTTCCTTGCCTATCAAATTAATTTTGGCCTGGTGTTCTTCATTATTCATTTGTTAATTTTATCTTGCCTTTGTCAATAACAGAAATGTTTGTCATTGAATTGGGAATTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCT
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Task1_train_2888
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This alteration in LYST (lysosomal trafficking regulator) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; CHEDIAK-HIGASHI SYNDROME, ADULT TYPE
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TTCAGGGCAGGCATCACTTCCTCTGGGAAATCCCCCTCAGTCTTCATATGCTCTATGCTACCAGAAAACAAAAATGTTGACTGCCTTATCACTGTGCTTTCCACGTGGCATGATATAATCGTTTCTTTATCCTCTTTCCCTCAACTAGGCTGTAAACGTCTTAAGAGAGGGGACCATATTTTACCCATCTTTGTAACTAACCCACTCTCAGAATCTTTATCCACAGTCCTTTTTCCATGAAATGTGCTAAGCCTACCACAAAGTCATGCTATCTAATTTCATTTGGACATTTACTGCTGCTTATTTTATTCATTTACTACATTTCTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGGTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACATTCTCACCTAACTGCAACCACCGCTTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCAGGCTAATTTTTTTTTTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCTGACCTCAGGTAATCTGCCTGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCCCATTTACTACATCTCTTAAAATGGCTATTGTACAACCAGTTTTCCAATGTAAATTTATGACTCAGCTTTCTTGTAGGTACATTCTTGCTTTCTTTCTTACATTACATTTCCCTGGTTCTTAAAAAAAACTGATTATTCCATCTTTCTCTTTTACTGATTCTTCATTCTTGTCCTACCCTCCAACTAGTAATACTACCAGCAGTTCTTTCCTTAGCTTTCTCTTTCCTTCTCTTGCTCTACTTTTCTTCAGTGGTCTCATCTGTTCTCAGAGCTTCACCTCACTTCTATGTGGACAGCTCCTTATAACCTACCCTTCCTTCTTCATGCTGTAACCCTCATTCCCAATTGCCTACTAGAAAATTATATTATAAATAACTGCAGGGCACCTCAAATACAACATATATTATACAACCAAAGCCATTATCCTTTTTCCTTAACACCTCCAGAGTCATTCCATCCTAAACTTCCCACTTCTCAATTTATCCCTCCTTTCCAGTTCCACTGTTACTATGCCCAGATTCTGTTATCCTGTCTCTCACGGACTACTATAATTGGCCTTACTGCCCCTAGTTCCTTATTCCTGAATTCTACTGCAATAATTTACTTATAGCCTTTGCTCAAAACAAACAAATAAAACCCTTTCAATGACCTATAACTAGAATACAAGTTCGAATTCTCTGGCCTTACATTCAAGGACCCATTTGATATGACTTTAGGGTAAAAATAAGTAAATGGTGGTCTTAAACTGTATTTATGGCATTATTTCTCACTATTCCTTTACAGATCCCCTATATATAGGTAAAACTCATTAGTCCTTATTTTCTATTTCCTTTTATCCTCCCTTTAAAGTCATTGTCTTTACCTGGAACACTAACTCTCCAATCTACCTATCAAATTCTACTCAAAATCTTCAATGTCTACATCAGATGTCATGTAACCTATTAAATATTCTCTCCACAGTGGTCGGATGAAACCCTCTGTCCACTGAAATCTCATTAGTTCTTCTTTTGTGTCTCTTTGATACTTACCAAATACACATTTTTTTTTTTTACTGTAGTTATTTGAGTCTATGTCTCCTTTCTCCACTTGGCATTTAGACTCCTTGAGGACAGAGGCCATGTCTAGTTCATTCTATAACTCTCTGCCCTATCCCAACCCCAATATGTAATTAGAGCAGCACAGAGGCCATTCAAATGTCAAACAAATGTGAATCAAGTGGGAAGAATAAAACAAAAGTGGAAATAGCCATGATCTAACAAAAATGATTATACCTACCTATGTGCAAAGAAAAGTAGAAGTTCGTGGGATTGTGACAAACGTAAGTATTAGTAGGAGGGTGAACTGCTAAAAGGAAATTGAAGATAATTGTCAATAATTCCAAATCTGGAGGAGATCCAAGGACTTCTGCTATAATTTTCACAAATGATCTACAAACCTCTCGGGGCATGGGTGTGAGTTGCCCCTCTTTGTATTCCTGAAAAAATAAAAAAAACTCTCTTTAGATTTAAAGAATTGTCAACTTAACTAAGATTTTTCATTTAGGCAAAATATTCTTTTTAAGATAGAATTCTGTTGGTTTACTACTCTAGTCTGATCATACTTACCATTACCATAACAACTCATTAAATTGAGTTATTTCCTAATTCAAGCAATCTTGTTATTAAAAATTCATTAACACAGATGGCAACTTAATTCTAGCCCATGTATCTTAATTAACTGAGGCAAACTTATATAACTCTCACAAGCGTGGTCTCAAAAGCCAGACTTCCTAGGTTTGCATTCTGGTTTCTCCACTCACTAGCCATGTGATCTTAGGTAAGTTACTTAACATCTGCATGCTTCACTTTCTTTGTCTATGTGAGTAATACTAGTGCTACTTTATAGGGTTGTTATAAGGACTAAATAACATAAACTCTTAGAATAGTGCCTTGCATATAGGTAAGCCCCATATAAATGTTAGTGATAAACTACAATCACTACTATTACTACTGCTACTATCTTTTCTTCTCCTTTTACTACTACTACTATTAGTAATATTAGTATAGGATTAGGACAGAAAACTTTTGATGGACAAAACTCGTTATACTAATACAATATGCTCCAGTTTACAAAGCTTTTTTTCACAACAGCTCTATGAGAGGTTTTAGCCCTCATTTCTAGAATATGAGGCACAAAGAGGTTATTTGACTAGTGTAAACCACACATAAAATATGTAGGTAGTACAATTATAACTCAAACTCAGGCCTCTGAACTCTTTCTACTGCACCATTTACTGTCTGGAATAATGAGGCTTGGCAAAATGCCAACTAATTACTAAAAATAAAGCTGTATATAAATAAATTGCTTATATCCTCCAATTCCATCTCCCCAGTGGGTAGCAGCTGGCCTCCAGATTAAGGGTATGGGAGGTAAAATTCCTCATCTTCCCTCTTCATATGTCCAAATATATATCTCTACATCCACTCTTCATTTACTCTTGGGTATTACTGAATTGGAGTACTTAAAATGTAGATGTTAATTTTGAAACAATTTAGTTCGACTACCTCAGATTTAAGAAGGGAACACTGAGTCTACAGAAGAAAACACAAAACTCCTTTGCCAAGTTCTCATAGCTGTCAAGTGGCAAAGACTAAGACAGGAACATAGATCTCCCGACTTCCAATTCAGAACTATTTCTGCTACAACCATCTGCATTTCTTCTAAACCATACTCCATGTATCTTCTTAACTTTCTTGGTTGCAGCATCAGTGATTCATTCCCAAGTCCAGCCCAGGTTACTTCTATCTTGCCCTCTCCACTGACTCTTTATCAATAGTCACTGGTATTCTATTTTATTATTTTTTTAATCCCTTAACTTTACCTTATATGAACATTCTGTTTCTGTCTTTGCTTTTGCTGCTGGACTTTTTAATAATCATTTGTTCTCACTGCCTTCAATGATCTGCCACACATGCTGTCCAAAGTCCCTGAAATCTGGCTCTTGCCTTATCCATGCTATTGAAATCTTGTAAGTCATTAAGAATTTCTGAGTCAATGGCCCTTTATCTGCCTACATTTTCTCTGAACTTTCTATATCATTTGGTTCAAGGTATCATCTTCTTCTCTACATGTTCTTCCCCCTCTGCCGACCTCTGGCTTTCACTTTACTGAGTCTCCTCTTAGCTTTTCAATTACTCTTTCTGTATCTCTTTCAATAGCCCCTTTTTCTGGTTTCACATCCTGAAAATGGGTATCTCCTGAGGTGTAAACCTCAGTCCTCTGATTCTCTCACTACGTTTCTCTGTCTTGGAGTGCTTCTCTATCCTGATGGCTTCACTATTACCAGTTCACTGTTGCTGAATATCCTGCTGTAATTTCAAATGTAGATACAAAAACTACAAAACTTACAAGGTTGCTTTTTTTTCTTATGAAATTATTGTTTTTCTGGTCTCCCGGCTTGAAATTTTAT
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TTCAGGGCAGGCATCACTTCCTCTGGGAAATCCCCCTCAGTCTTCATATGCTCTATGCTACCAGAAAACAAAAATGTTGACTGCCTTATCACTGTGCTTTCCACGTGGCATGATATAATCGTTTCTTTATCCTCTTTCCCTCAACTAGGCTGTAAACGTCTTAAGAGAGGGGACCATATTTTACCCATCTTTGTAACTAACCCACTCTCAGAATCTTTATCCACAGTCCTTTTTCCATGAAATGTGCTAAGCCTACCACAAAGTCATGCTATCTAATTTCATTTGGACATTTACTGCTGCTTATTTTATTCATTTACTACATTTCTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGGTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACATTCTCACCTAACTGCAACCACCGCTTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCATGCCAGGCTAATTTTTTTTTTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCTGACCTCAGGTAATCTGCCTGCCCCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCCCATTTACTACATCTCTTAAAATGGCTATTGTACAACCAGTTTTCCAATGTAAATTTATGACTCAGCTTTCTTGTAGGTACATTCTTGCTTTCTTTCTTACATTACATTTCCCTGGTTCTTAAAAAAAACTGATTATTCCATCTTTCTCTTTTACTGATTCTTCATTCTTGTCCTACCCTCCAACTAGTAATACTACCAGCAGTTCTTTCCTTAGCTTTCTCTTTCCTTCTCTTGCTCTACTTTTCTTCAGTGGTCTCATCTGTTCTCAGAGCTTCACCTCACTTCTATGTGGACAGCTCCTTATAACCTACCCTTCCTTCTTCATGCTGTAACCCTCATTCCCAATTGCCTACTAGAAAATTATATTATAAATAACTGCAGGGCACCTCAAATACAACATATATTATACAACCAAAGCCATTATCCTTTTTCCTTAACACCTCCAGAGTCATTCCATCCTAAACTTCCCACTTCTCAATTTATCCCTCCTTTCCAGTTCCACTGTTACTATGCCCAGATTCTGTTATCCTGTCTCTCACGGACTACTATAATTGGCCTTACTGCCCCTAGTTCCTTATTCCTGAATTCTACTGCAATAATTTACTTATAGCCTTTGCTCAAAACAAACAAATAAAACCCTTTCAATGACCTATAACTAGAATACAAGTTCGAATTCTCTGGCCTTACATTCAAGGACCCATTTGATATGACTTTAGGGTAAAAATAAGTAAATGGTGGTCTTAAACTGTATTTATGGCATTATTTCTCACTATTCCTTTACAGATCCCCTATATATAGGTAAAACTCATTAGTCCTTATTTTCTATTTCCTTTTATCCTCCCTTTAAAGTCATTGTCTTTACCTGGAACACTAACTCTCCAATCTACCTATCAAATTCTACTCAAAATCTTCAATGTCTACATCAGATGTCATGTAACCTATTAAATATTCTCTCCACAGTGGTCGGATGAAACCCTCTGTCCACTGAAATCTCATTAGTTCTTCTTTTGTGTCTCTTTGATACTTACCAAATACACATTTTTTTTTTTTACTGTAGTTATTTGAGTCTATGTCTCCTTTCTCCACTTGGCATTTAGACTCCTTGAGGACAGAGGCCATGTCTAGTTCATTCTATAACTCTCTGCCCTATCCCAACCCCAATATGTAATTAGAGCAGCACAGAGGCCATTCAAATGTCAAACAAATGTGAATCAAGTGGGAAGAATAAAACAAAAGTGGAAATAGCCATGATCTAACAAAAATGATTATACCTACCTATGTGCAAAGAAAAGTAGAAGTTCGTGGGATTGTGACAAACGTAAGTATTAGTAGGAGGGTGAACTGCTAAAAGGAAATTGAAGATAATTGTCAATAATTCCAAATCTGGAGGAGATCCAAGGTCTTCTGCTATAATTTTCACAAATGATCTACAAACCTCTCGGGGCATGGGTGTGAGTTGCCCCTCTTTGTATTCCTGAAAAAATAAAAAAAACTCTCTTTAGATTTAAAGAATTGTCAACTTAACTAAGATTTTTCATTTAGGCAAAATATTCTTTTTAAGATAGAATTCTGTTGGTTTACTACTCTAGTCTGATCATACTTACCATTACCATAACAACTCATTAAATTGAGTTATTTCCTAATTCAAGCAATCTTGTTATTAAAAATTCATTAACACAGATGGCAACTTAATTCTAGCCCATGTATCTTAATTAACTGAGGCAAACTTATATAACTCTCACAAGCGTGGTCTCAAAAGCCAGACTTCCTAGGTTTGCATTCTGGTTTCTCCACTCACTAGCCATGTGATCTTAGGTAAGTTACTTAACATCTGCATGCTTCACTTTCTTTGTCTATGTGAGTAATACTAGTGCTACTTTATAGGGTTGTTATAAGGACTAAATAACATAAACTCTTAGAATAGTGCCTTGCATATAGGTAAGCCCCATATAAATGTTAGTGATAAACTACAATCACTACTATTACTACTGCTACTATCTTTTCTTCTCCTTTTACTACTACTACTATTAGTAATATTAGTATAGGATTAGGACAGAAAACTTTTGATGGACAAAACTCGTTATACTAATACAATATGCTCCAGTTTACAAAGCTTTTTTTCACAACAGCTCTATGAGAGGTTTTAGCCCTCATTTCTAGAATATGAGGCACAAAGAGGTTATTTGACTAGTGTAAACCACACATAAAATATGTAGGTAGTACAATTATAACTCAAACTCAGGCCTCTGAACTCTTTCTACTGCACCATTTACTGTCTGGAATAATGAGGCTTGGCAAAATGCCAACTAATTACTAAAAATAAAGCTGTATATAAATAAATTGCTTATATCCTCCAATTCCATCTCCCCAGTGGGTAGCAGCTGGCCTCCAGATTAAGGGTATGGGAGGTAAAATTCCTCATCTTCCCTCTTCATATGTCCAAATATATATCTCTACATCCACTCTTCATTTACTCTTGGGTATTACTGAATTGGAGTACTTAAAATGTAGATGTTAATTTTGAAACAATTTAGTTCGACTACCTCAGATTTAAGAAGGGAACACTGAGTCTACAGAAGAAAACACAAAACTCCTTTGCCAAGTTCTCATAGCTGTCAAGTGGCAAAGACTAAGACAGGAACATAGATCTCCCGACTTCCAATTCAGAACTATTTCTGCTACAACCATCTGCATTTCTTCTAAACCATACTCCATGTATCTTCTTAACTTTCTTGGTTGCAGCATCAGTGATTCATTCCCAAGTCCAGCCCAGGTTACTTCTATCTTGCCCTCTCCACTGACTCTTTATCAATAGTCACTGGTATTCTATTTTATTATTTTTTTAATCCCTTAACTTTACCTTATATGAACATTCTGTTTCTGTCTTTGCTTTTGCTGCTGGACTTTTTAATAATCATTTGTTCTCACTGCCTTCAATGATCTGCCACACATGCTGTCCAAAGTCCCTGAAATCTGGCTCTTGCCTTATCCATGCTATTGAAATCTTGTAAGTCATTAAGAATTTCTGAGTCAATGGCCCTTTATCTGCCTACATTTTCTCTGAACTTTCTATATCATTTGGTTCAAGGTATCATCTTCTTCTCTACATGTTCTTCCCCCTCTGCCGACCTCTGGCTTTCACTTTACTGAGTCTCCTCTTAGCTTTTCAATTACTCTTTCTGTATCTCTTTCAATAGCCCCTTTTTCTGGTTTCACATCCTGAAAATGGGTATCTCCTGAGGTGTAAACCTCAGTCCTCTGATTCTCTCACTACGTTTCTCTGTCTTGGAGTGCTTCTCTATCCTGATGGCTTCACTATTACCAGTTCACTGTTGCTGAATATCCTGCTGTAATTTCAAATGTAGATACAAAAACTACAAAACTTACAAGGTTGCTTTTTTTTCTTATGAAATTATTGTTTTTCTGGTCTCCCGGCTTGAAATTTTAT
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Task1_train_2889
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The gene EDARADD (EDAR associated via death domain) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
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CCCAGCAGCCCTCTGTTTCTGTGCTGGACACAGGGCACAGGTCTCTTTGCTGGTGCTGGGCCGCGGTCCCCGGGGGTTAGGCTGCTCTGTGCTGTCTCTGATGCAGTCTTGCCACCTTCATGCTCTGCAGATGTCTGTATCCTGCTCCATGGGAGGCAATGGCAAAGGCTCTCTCCATTCGTCCCCATTTCTCTTCAGTGACTGGAGGCTGCATAAAACAAAGAGATGTTGCCTTCTCGAAACTTCTTTGGGCATTATCAACACCTGCAGGGCAAAGAAACTGTGGAAAGTTCAGACACATTCTCAGCTGGGAAACACCTAGGAAGAACACACACAAATTATTATCTTGACAAATTGTCCTGCTGTGCTTATTTGGATCCCCAAAGGCATTCCCAGGACCTAATTCCTAGTCTGCAATATGTACTTAATGAGGATTTGGATCAAAAGTGAATGCTGACTCTTGGCGGACCCACGACTGCCACTTAGGGTACTGCAGGTCGTTCACTGCACAAATCTGGAGGATCCCACGCAAAAAGATTTGATTATTTACTGAGACAGCTCTCTGGCAGATGTCTTATAAAGCATTTTGGAGATGGGAAACTTTTCTAATTTGTACTAATTAGGTCCTGACTGAGGTCTGTGCCTTTTTCCGTATTTCCCCTTTAAATTCCTTCAATGCATCAAGTGATAAAGTATCAGAAACAAAATATTGAGAAATCAAGATTATTTTTGATAAAAAACTATGGTTTTTTCTTTATTAGTCCACATAAACAACATTCAGAAGATTAAGAAAAATGAGTTGCAGCAAAATAGGAAATCAGGAAAGAAGTAGATTCAGAATGGAGTCATTCCTGCCGAAGGTAGTGTCAAATTCAGTAGGCAAGAGAGTCATTAATGTGATGCCTGCATAGTTTGTGGTTGTTTGTAACTCTGGGTATTTGAAGATATTTATAGGTAACCTGTTCCAAAATATGGTGGGGTTTTTTATGTAGTTACTTTTTATATTTTTAATTAATTAATTTATTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCTATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCACTATGCGAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCTATGTTGGACCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCTATAGTTTCTTTTTATTAATCTATTTCTTGATGCAATCTGAATCTGTTCCTCTTTATTTTGTCTCAACTAATAATTGGAAGTAAGACTTTCAGGCCAGGTGCGGTGTCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGGCCGGAAGCTCAAGGTTGTAGTGAGCTATGATTGTGCCACTGAGTGTACTCCAGCCTGGGCTACAGAGCAAACCCTATTTCTTTTTTCTTTCTTTCTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACTGTGTTGGCTCACTGCAACCTCCGACTCCTGGGCTCAAGCGATTCTCCTCCCTCAGCCTCCTGGGTAGCTGGGATTACAGGCGCCCACCTAATTTTTATTTTTATTTTATTTTATTTTTTAGTAGAGACAGGGTTTTACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGCATGAGCTACCTCACCCAGCCAATCCTATTTCTTAAAAAAAAAAAAAAAAAAAGGAGTAAGGTTTTCTTCAGCCTAAGTAAAATTACTTGCCTCTGTATAGAGACAGTTATCAAAGGACTCATTTGTGGTTTTAAATTAAAGCAAACCCGCTCTATTTGTTTGTTTTTGTTCTTTTTACAGATCATATGGTAAAGGAACCAGTGGAAGACACAGACCCTAGCACTTTATCCTTTAATATGGTAGGTGACAAATTTTACACTAATGGTGATAATTATTGTTTTGCTTTTTTTCTTTGTTATTTCTTTACGTTTTTATTACTCAGTATTTACATGTGCATCAGAAACCCCAAAGTAAGATTTTTCTAAGATAACTGCTTTATCTTGGTATTCTACGTGATAATAATAAACTTTGGGTTTCTCCAGGCTAAAAATGGCGTTAGATTCTTTTCTTCTTTTGCTCATGTTGGAGGTGATATTACATTATGTGAGGGCTTTACCCACTTCCCTGGTTTTTTTTTATTTCATTTTTCATTTTTATTTTTTTTTAGACGGAGTCTTGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTGGTAGAGTGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCTGCCACCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGTACCTGGCCTACTTGCCTGTTTTTAATACTACTGGTCTGGTAATGGAGCAGCCTGGGATGCCAGATGGACACACGCTATTGGATTTACCTCAGTTACAGCGTTTAGTTCTAGCAGCTGCCTTCTGAGCCACATCCTCTCCCCACCCTCCCGTAACCATTCTGAGGCTATTGCTTTAAGGGTATCCAAAGATTTCACATATATTGGTTTTTTAAAATTCATTTTATGGTTTTATTATTATTATCATTTTAATTTCAGATTCCATGGGTACGTATGCAGCTTTGTTACGTGGATGCATAGCATAATGGTTAGGTTTGGGCTTCTCATAAATCCATCACCCACATAGTGAACGCTGTACCTAATAGGTAATTTTTCAACCCTGAGCCCTCCTCCCACCCTCCCCCCTTTTGGAGTCCCTAGTGTCTGTTATTTCCATCTTTATGTCCATGGGTACCCATTCTTTAGCTCCCACTTATAAGTGAGAACATGCAGTATTTGATTTTCTGTTTCTGAGTTATTTCACTTGGGATGATGGCTTCCAGCTGCATCCATGTGGCTGCAAAGGAGAGAATTGTGTTCTTTTTTATGGCTGCCATCATTATTTTTCAACCTCCCAAGATCCTCCCAACCATCCCTTGAGATGGTGGGGCACGTACCCCCATCCTACAGATGCAGAAAGGACAGTTAATGGAAGTGTGCCGCCACCTAGACCGGAGCCCTGTGCTCCTGCCCAGCACTGCTTCTTGCTGAGGGCCAAAGCGGTGCTCTCTGTCAGGCAGCGTGTGTGATGGGCATATTGTGTAGGACACATTCCTTCTGTTCCAGATCCTCAGAGGATGGGATCTACCAACTCATGAAAAGTTTTGGTTAACTGATTTAGTTACAGCGACACAGAATACACTTCATGTAATTCAACTAAATGTCTTTAAATCTTAGGTGTCTTGCGGACCTGAGGTGTTTGTTTTCCTGTCCTTTAATTACCCCTGGCTTGGTAAATTGTAGACAGCGTAGGGGGTCAAGCTTTGATACCCACTGGAAATTCCTATGAAAAATTCTCAGTCTCTTCACTCTGATCAAAATGGAACGAAGAACAACCCTGTGGCCATGGCTTATATGTCTCTGGAGTAGCTTGTTACTAAAGCCTTTGGTTTCTATAAAGTGTTATTCAGTTTGCCTTCTTTCCCTTCCCACTGCCCCCACCTGTGACTCTCCAGTTCTCCCTGGTATCCTGCTTACTTCCTGATACCAGGTTTTCTTTCCCTCCCTTGGAGCTATGTCCTTATGCTCACCTTGGGGCTCAGCTACCTCTAATTACTTCTCCATGCTGGGGACAAAGTGATCTTTCCAAAGTGTCCCTCTTACTAGTTTCTTAGGGCTGTCGCAACAGAATACCACAGACTGGGCAGCTTTCACAATAGAAATGTATTTGCTCCT
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CCCAGCAGCCCTCTGTTTCTGTGCTGGACACAGGGCACAGGTCTCTTTGCTGGTGCTGGGCCGCGGTCCCCGGGGGTTAGGCTGCTCTGTGCTGTCTCTGATGCAGTCTTGCCACCTTCATGCTCTGCAGATGTCTGTATCCTGCTCCATGGGAGGCAATGGCAAAGGCTCTCTCCATTCGTCCCCATTTCTCTTCAGTGACTGGAGGCTGCATAAAACAAAGAGATGTTGCCTTCTCGAAACTTCTTTGGGCATTATCAACACCTGCAGGGCAAAGAAACTGTGGAAAGTTCAGACACATTCTCAGCTGGGAAACACCTAGGAAGAACACACACAAATTATTATCTTGACAAATTGTCCTGCTGTGCTTATTTGGATCCCCAAAGGCATTCCCAGGACCTAATTCCTAGTCTGCAATATGTACTTAATGAGGATTTGGATCAAAAGTGAATGCTGACTCTTGGCGGACCCACGACTGCCACTTAGGGTACTGCAGGTCGTTCACTGCACAAATCTGGAGGATCCCACGCAAAAAGATTTGATTATTTACTGAGACAGCTCTCTGGCAGATGTCTTATAAAGCATTTTGGAGATGGGAAACTTTTCTAATTTGTACTAATTAGGTCCTGACTGAGGTCTGTGCCTTTTTCCGTATTTCCCCTTTAAATTCCTTCAATGCATCAAGTGATAAAGTATCAGAAACAAAATATTGAGAAATCAAGATTATTTTTGATAAAAAACTATGGTTTTTTCTTTATTAGTCCACATAAACAACATTCAGAAGATTAAGAAAAATGAGTTGCAGCAAAATAGGAAATCAGGAAAGAAGTAGATTCAGAATGGAGTCATTCCTGCCGAAGGTAGTGTCAAATTCAGTAGGCAAGAGAGTCATTAATGTGATGCCTGCATAGTTTGTGGTTGTTTGTAACTCTGGGTATTTGAAGATATTTATAGGTAACCTGTTCCAAAATATGGTGGGGTTTTTTATGTAGTTACTTTTTATATTTTTAATTAATTAATTTATTTTTTTGAGATGGAGTTTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCTATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCACTATGCGAGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCTATGTTGGACCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCTATAGTTTCTTTTTATTAATCTATTTCTTGATGCAATCTGAATCTGTTCCTCTTTATTTTGTCTCAACTAATAATTGGAAGTAAGACTTTCAGGCCAGGTGCGGTGTCTCATGCCTGTAATCCCAGTGCTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGGCCGGAAGCTCAAGGTTGTAGTGAGCTATGATTGTGCCACTGAGTGTACTCCAGCCTGGGCTACAGAGCAAACCCTATTTCTTTTTTCTTTCTTTCTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCACTGTGTTGGCTCACTGCAACCTCCGACTCCTGGGCTCAAGCGATTCTCCTCCCTCAGCCTCCTGGGTAGCTGGGATTACAGGCGCCCACCTAATTTTTATTTTTATTTTATTTTATTTTTTAGTAGAGACAGGGTTTTACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGCATGAGCTACCTCACCCAGCCAATCCTATTTCTTAAAAAAAAAAAAAAAAAAAGGAGTAAGGTTTTCTTCAGCCTAAGTAAAATTACTTGCCTCTGTATAGAGACAGTTATCAAAGGACTCATTTGTGGTTTTAAATTAAAGCAAACCCGCTCTATTTGTTTGTTTTTGTTCTTTTTACAGATCATATGGTAAAGGAACCAGTGAAAGACACAGACCCTAGCACTTTATCCTTTAATATGGTAGGTGACAAATTTTACACTAATGGTGATAATTATTGTTTTGCTTTTTTTCTTTGTTATTTCTTTACGTTTTTATTACTCAGTATTTACATGTGCATCAGAAACCCCAAAGTAAGATTTTTCTAAGATAACTGCTTTATCTTGGTATTCTACGTGATAATAATAAACTTTGGGTTTCTCCAGGCTAAAAATGGCGTTAGATTCTTTTCTTCTTTTGCTCATGTTGGAGGTGATATTACATTATGTGAGGGCTTTACCCACTTCCCTGGTTTTTTTTTATTTCATTTTTCATTTTTATTTTTTTTTAGACGGAGTCTTGCTCTCTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTGGTAGAGTGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTAACCTCAGGTGATCTGCCACCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGTACCTGGCCTACTTGCCTGTTTTTAATACTACTGGTCTGGTAATGGAGCAGCCTGGGATGCCAGATGGACACACGCTATTGGATTTACCTCAGTTACAGCGTTTAGTTCTAGCAGCTGCCTTCTGAGCCACATCCTCTCCCCACCCTCCCGTAACCATTCTGAGGCTATTGCTTTAAGGGTATCCAAAGATTTCACATATATTGGTTTTTTAAAATTCATTTTATGGTTTTATTATTATTATCATTTTAATTTCAGATTCCATGGGTACGTATGCAGCTTTGTTACGTGGATGCATAGCATAATGGTTAGGTTTGGGCTTCTCATAAATCCATCACCCACATAGTGAACGCTGTACCTAATAGGTAATTTTTCAACCCTGAGCCCTCCTCCCACCCTCCCCCCTTTTGGAGTCCCTAGTGTCTGTTATTTCCATCTTTATGTCCATGGGTACCCATTCTTTAGCTCCCACTTATAAGTGAGAACATGCAGTATTTGATTTTCTGTTTCTGAGTTATTTCACTTGGGATGATGGCTTCCAGCTGCATCCATGTGGCTGCAAAGGAGAGAATTGTGTTCTTTTTTATGGCTGCCATCATTATTTTTCAACCTCCCAAGATCCTCCCAACCATCCCTTGAGATGGTGGGGCACGTACCCCCATCCTACAGATGCAGAAAGGACAGTTAATGGAAGTGTGCCGCCACCTAGACCGGAGCCCTGTGCTCCTGCCCAGCACTGCTTCTTGCTGAGGGCCAAAGCGGTGCTCTCTGTCAGGCAGCGTGTGTGATGGGCATATTGTGTAGGACACATTCCTTCTGTTCCAGATCCTCAGAGGATGGGATCTACCAACTCATGAAAAGTTTTGGTTAACTGATTTAGTTACAGCGACACAGAATACACTTCATGTAATTCAACTAAATGTCTTTAAATCTTAGGTGTCTTGCGGACCTGAGGTGTTTGTTTTCCTGTCCTTTAATTACCCCTGGCTTGGTAAATTGTAGACAGCGTAGGGGGTCAAGCTTTGATACCCACTGGAAATTCCTATGAAAAATTCTCAGTCTCTTCACTCTGATCAAAATGGAACGAAGAACAACCCTGTGGCCATGGCTTATATGTCTCTGGAGTAGCTTGTTACTAAAGCCTTTGGTTTCTATAAAGTGTTATTCAGTTTGCCTTCTTTCCCTTCCCACTGCCCCCACCTGTGACTCTCCAGTTCTCCCTGGTATCCTGCTTACTTCCTGATACCAGGTTTTCTTTCCCTCCCTTGGAGCTATGTCCTTATGCTCACCTTGGGGCTCAGCTACCTCTAATTACTTCTCCATGCTGGGGACAAAGTGATCTTTCCAAAGTGTCCCTCTTACTAGTTTCTTAGGGCTGTCGCAACAGAATACCACAGACTGGGCAGCTTTCACAATAGAAATGTATTTGCTCCT
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Task1_train_2890
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This is a variant in EDARADD (EDAR associated via death domain), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
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ACTGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGC
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ACTGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACGAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGC
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Task1_train_2891
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Gene EDARADD (EDAR associated via death domain) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
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TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTG
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TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAAACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTG
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Task1_train_2892
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A mutation in EDARADD (EDAR associated via death domain), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
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TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTG
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TGTAGACATTTTGGTTGTTTTTGAAACTTAATAATGTAAATAACACCGTGATAACAATGTTTATGTAAATTCATATTTTGGATTATCTCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAAACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTG
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Task1_train_2893
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This variant affects gene EDARADD (EDAR associated via death domain) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
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TCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGT
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TCCTTAGGGTGGATTCCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACAAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGT
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Task1_train_2894
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Given a variant located on Chromosome 1 and affecting EDARADD (EDAR associated via death domain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
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CCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGTGGCTAATTAGACCCC
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CCCAGAAGTCACATTAGTAGGTCAAAGAGTATGAGCCTATTTTCAAGGCTCTTGTTTTATTACCTTTTAATTTCCACTTGCCTCAATATTGCTGGTTTGCTCCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGAAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGTGGCTAATTAGACCCC
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Task1_train_2895
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A change on Chromosome 1 affects gene EDARADD (EDAR associated via death domain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
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CCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGACGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGTGGCTAATTAGACCCCTCCCCTTGTGTCAACTCCGGCAGCTCAAGACCCCCGAGCAACATTTGTAGGGGCCGCTGCTAGTTAGCTACCCTTGCCCACCGCCGTGGAGTTCGCACCTC
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CCCTTATGATCACCAGAGTTACTCCGTCGGTCCAAATTCTTTACCTTCCGAAACTGGGAAGGCCATGACTCAATGTTATATATATAGTAAAGGCTACTATAACCTTCCCCAGAATTTTCCAAGCCAGTGGTCTCTAAAGTGACCTTTGGCTGTTAAAATCTGAATTCAGAGGGTTCATGAGACTCAGTGTTGTTGTAGAATTTAAGCTCCTTAATTTGCCACGTTGTTTAGACACCACTTAATACTTTATTGCAAATGACTTGTCAACGCCTCTCACCTACAAACTTCATCCTCCTACAAATATACCTCCTGCTAATCAAATGAGGCTACAGTTGAGTCTTTAAGTTTCAGTAGAAAGATGGCCCTTCCTCTGGGGTAGGCGCATGCTCTTCATGCTGAAGCTCAGCTGAAAAGCCTCCTGCTGAGTTTTCTGCCTCTTTCCCTCCCACTGCACACACCCCAGGGTGTTGGCGCCACTTCAAAGGGAGCCTGTGGATGAAGAAAACACAGGTAAAGGCAGAGGGCTCATAAGGGGGCCATAAATTTAAAAAGTTAAGATTCCTGGCACTATCAACTCTCACTTGTTTTCAAATATGCATATGGAGTGGATATTCCAGTTTTCATGTCTGTGTTGTTGTTTTTAAAAAAAGACCTTTCAAAGAACTGTGCATTTTTTACAGGCTGACAGGCTGTGTTTGGTGTTAAACTGTCAGGGCTGACTGGTCACTTGGAAAGGGCAAGGGCTGAGGTGCATGCAAGTGTCGGCTGGTTACTCACAGACACAGCAGCCCCTTTTACCCCGGAGAGAGTTCTGTTTGCTGGAGCCCTTATTCTGGCCAGCAGTGTCACAAATGCACACTGTAAGACATAGACAGTCTTGGAAAGAAAGGGAAACTGGCTTTAAAAATTCTTACTCCTTCTAGCAAAGCAATTCATCTTTGGCTATAAAGAATAACACAGCCAGGTGCGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGTGGGCAGATCACTTGAGTCTAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAAACCCCACCTCTACCAAAAAAAAAAAAAAGAAAGAAAGAAAAGATTAGCCAGGTTTGGTGGTACGTGCCTGTAGTCCCAGGTACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCTGGAGGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGACACCCTGTATCAAAAAAAAAAAAAAAAAAGAACAGTAACACATTATTAGAAATGAGCATTCTGAGGCCAGGCACGGTGGCTCATGCCTATAATCGCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTTTACTAAAAACACAAAAAATTAGCCGGGTGCAGTGGCGGGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAGAAAGAAACGAGCATTCTGAAATAGTCTTCCATATGATGCTTTTGACAATTCAGCAGGAAAATAAAGGATGTAAGAAATGAATGCATATGTTAGGCCTCTTGTTGACCTGTGGACTAAATTGTTTCTCCCTGCAGAGATCAGCAAGGACAACTCCTGCAAAGAAAACTGTACTTGTTCCTCCTGCTTGCTCCGGGCCCCCACCATAAGTGACTTGCTCAATGATCAGGACTTACTAGACGTGATCAGGATAAAGCTGGATCCGTGTCACCCAACGGTGAAAAACTGGAGGAATTTTGCAAGCAAATGGGGGATGTCCTATGACGAATTGTGCTTCCTGGAGCAGAGGCCACAGAGCCCCACCTTGGAGTTCTTGCTCCGGAACAGTCAGAGGACGGTGGGCCAGCTGATGGAGCTCTGCAGGCTCTACCACAGGGCCGAAGTGGAGAAGGTTCTGCGCAGGTGGGTGGACGAGGAGTGGCCCAAGCGGGAGCGTGGAGACCCCTCCAGGCACTTCTAGAGCTCTTCTTCTTCCTTCATTGGCCTCTCCGGATGTTGAAACAACCACAGGTCAAGAAGGAATGTGAATCTGTTGTTTTATAAGAGTTTAGGACAAGGACGTGGAACAGTGGACACTGGTTTTCCCCAAAGCTGGCAGTTTTGTGGAGGGGTAGCTTGTTTCGGTGGTGGATCTCTGTTTATTTTTGCACATCTGTTATAATTTAATATTCAAATCTGGAATTAAGAAAACATATTTTCTAGTATCCTCTAAGGGCCAAAGTCCTACAATCGGAATGGATTCATGCCACGTTGAAGATAAAATTATCCTCTCTCTGAAATACGGTAAAGATTTAAATAGGTCCTGAGACTGTTGATAGCCCCAGACATACCCACAGCATTATATGTAACATCTCTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGCTACAAGGAATGCTTACCTGAGTGTCTGCAGCACCCTCCACTTCTCTCCTAGGCAATGAGACCCAGTGGCTAGAAATTCACCATGTCTATTCTCAAGATCCATGCCAGGGAGCTCTTTGACTCTCGTGGGAATCCCACTGTTGAGGTTGATCTCTTCACCTCAGAAGGTCTCTTCAGAGCTGCTGTGCCCAGTGGTGCTTCAACTGGTATCTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGTGTCTCAAAGCCTGTTGAGCCCATCAATAAAACTATTGCACCTGTCCTGGTTAGCAAGAAACTGAACGTCACAGAACAAGAGAAGATTGACAAACTTATGATAGAGATGGATGGAACAGAAAATAAATCTAAATTTGGTGCAAATGCCATTCTGGGAGTGTCCCTCGCTGCCTGCAAAGCTAGTGCTGTTGAGAAGGGGGTTCCCCTGTACCACCACATCGCCGACTTGTCTGGCAACTCCAAAGTCATCTTGCCAGTCCCGGTGTTCAATGTCATCAATGGCAGTTCTCATGCTGTCACCAAGCTGGCCATGCAGGAGTTCATGGTCCTCCCAGTCGGTGCAGCAAACTTCAGGGAAGCCATGCCCATTGGAGCGGAGGTTTACCACAGCCTGAAGAATGTCATCAAGGAGAAATATGGGAAAGATGCCACCGGTGTGGGGGATGGAGGCGCGTTTGCTCCCAACATCCTGGAGAATAAAGAAGGCCTGGAGCTGCTGAAGACTGCGATTGGGAAAGCTGGCTACACTGATAAGGTGATCGTCAGCATGGACGTAGAGGCCTCCGAGTTCTTCAGGTCTGGAAAGTATGACCTGGAATTCAAGTTTCTCGACGACCCCACCAGGTACATCTCACCTGACTGTCTGGCTGACCTGTACAAGTCCTTCATCAAAAACTACCCAGTGGTGTCTACTGAAGATCCCTTTGACCAGGATGACTGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCAGGTAGTGGAGGATGATCTCAGAGTGACCAACCCAAAGAGGACAGCCTCGGCCGTGAATGAGAAGAAGTGCAACTGCCTCCTGCTCAAAGTGAACCAGATTCGCTCTGTGACTGAGTCCCTTCAGGCGTGCAAGCTGGCCCAGGCCAATGGTTGGTGTGTCATGGTGCCTCATCATTCTGGGGAGACTGAAAATACCTTCATCACTGACCTGGTGGTGGGGCTGTGACCTGGGCAGCTCAAGACTGGTGCCCCTTGCTGATCTGAGCGCTTGGCCAAGTACAACCAGCTCCTCAGAATTGAAGAGGAGCTGGGCAGCAAGGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGGGCAGGCAAGCCCTTCAGTCACCTGGTGGCTAATTAGACCCCTCCCCTTGTGTCAACTCCGGCAGCTCAAGACCCCCGAGCAACATTTGTAGGGGCCGCTGCTAGTTAGCTACCCTTGCCCACCGCCGTGGAGTTCGCACCTC
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Task1_train_2896
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A change on Chromosome 1 affects gene ACTN2 (actinin alpha 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Primary dilated cardiomyopathy
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TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCGCTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
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TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCACTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
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Task1_train_2897
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Given this context: Chromosome 1, gene ACTN2 (actinin alpha 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hypertrophic cardiomyopathy
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TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCGCTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
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TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCACTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
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Task1_train_2898
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The variant affects gene ACTN2 (actinin alpha 2), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Dilated cardiomyopathy 1AA
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TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCGCTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
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TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCACTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
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Task1_train_2899
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Here is a variant affecting ACTN2 (actinin alpha 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Primary familial hypertrophic cardiomyopathy
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TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCGCTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
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TGAGTAGCTGGGACTACAGGCACACGTTACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCATCACACCTGGCCTTTGAACATTCTTCAAACATTATTTAGACTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGAGGATTGCTTGAGTCTAGGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCCCATCTCTAAAAAAAAATTAGCTAGGTGTGGTCGTGCATGCCTATAGTCCCAGCTACTTAGGGGGCTGAGGCAGGAGGATCAGTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATCACACCACTGTTCTCCAGCCTGGGTGACAGAGCTGGATGACCCTGTCTCCAAAACAAAACAAAACACTGTTATTTATTCATCTATTCTGCTGCAAGCAAGCATATTTTGCATATTTGTGAGCAAGAAATAAGCACATCTTAATTTAATCTATCTTTTCTACAAAGTAAAAGGGTTTCAAAAGGTGAAGATACAGGTATAAATGTGGTGTCTTTTTAAATGGAAGGCAAAAATTCTTCAGGTTGGAATATCCAATAAGAGAGTCTTTATCTCTAAAGTGGAAAATTTACTAAAATCGTTCTTTTGGGTTTCCAGTTCTTCTTTCCATCAAATTCTGCATCCTCTAGAAGCCCAAGCAGCCCCAGCCTTGTAGATTCCCAAGAACGTGTAAGGTGTCAAGTGTCGTCTGTGAGGAAGGGATCTGAAATCCGATGGACCTGTGCTAAACCGTGTTTGGTTTTCTTTGCAGACCTTCACTGCCTGGTGTAACTCCCACCTAAGGAAAGCCGGCACCCAGATTGAGAACATCGAGGAAGACTTCAGGAATGGCCTTAAGCTCATGCTGCTTTTGGAAGTCATCTCAGGTTGGTGTTATATATCCCATCCTATGCTTTCATGTGTTATCAGTAGGTGAGCATCTATTTAAAGATGACTACATCAGAAGTTCGCTTTGAACTTGGCTGGGCAAGAACATGGTATTATTGCCAAAGAAAACCTTTCCAAAGAACAATCTGCCTGGAGTTATTTTTCCGTTCTAAAAAAAGGAGTGAATTCTCTTTAAAAATCACTTATTAAAATAATGTTTATACCACCAAGCTTGAAACAAAATAAGAGAAGAAAAAATGACTTCACACGACTCCCTCCATGCTGCCCTTTCTACTCTTCGTCCAGCTAGAGTGTATTCCAGAAATCATCTTGTATCCAAAAATCTACTGTACATGTTGGCAGAACTCTGAACATATAAGCTAAAATCCCAGTGGGGCTATGATTTGTCCTGAATTTCAGTTGGCTGATTTAGACTTTGGACTAGAGAATGGATCACCTTTGGAGAAGTGTGACTGGGAAGGATTATGGCAGATCTGCCCTGATCCATCTGTCTTCATAATCAGGTGTCGAACGAGCCCTGGCAGCCACCTCTGTGATTTTAACTGGCCATCCTGACTTCCTCTAACCGTTAGCCAGCAACTCTGAATACTCCAGGGACTCTAACCAGCTTCTCTTTTTACTCATTTGTAAGTTGGATCATGGGCCAAACCAGACTCTCCCTGCAGATCTGAAAAGCATGTGTCCTTCATAGTATGGCTCCCTGCTGGTCCATTTGATTCTGAAAGTTTCTGGGTTAGTGTTCCCTCATTGCTGTGATTTAGAGAGACCAGGCACACATCAGAAATAGTCATGTAACCTTCTCTTTTTAAGGAAAAGATGGATGCTTAGTTTTGGCATCTTGATTCCGCATCAAGAGGTCACTGTCTCTATGTCTGCATGATTCTCTTTTCATCCAACAGGGGAAAGGCTGCCCAAACCTGACCGGGGAAAAATGCGGTTCCACAAAATTGCTAATGTCAACAAAGCTTTGGATTACATAGCCAGCAAAGGGGTGAAACTGGTGTCCATTGGCACTGAAGGTGAGAGGTGTGGTGGGTGGTCCTGTCTGCCACACTGACCTAATAGCGTAGGTGTGGGCTGCGACTTGAATTCTCCCCTTCTTCCCTCCCTTTCACCATTTACTGTACCTGCCTTGTATCAGGCTCTCTCTTAGGGCGCTCGGTGCACAAAGATAAGAACAAATGGTACCATGAGTGGGAGACCAAGCTCTAGGTTCTTTGTAAAGCATAGAATTAAATATAATGCTGTCATCTTCAGAAGACTTAAAGGACTGAGAAAGAACTTACACATCCCAATGACTCTTAATAAGAACTAACTAATAGGAAGGAAGTGGCCTCTTTGTTCTCTATGGGAGACTGGGAATTTGGTGAGGTCAGCGGGAGCTGAGATTTCCACCCATATCTCTGTATGCACAACTGAGTCCTGCTACTTGTCAGCTGCGGAATGCCGTAAGAAGGGTCAGGGTAAAGATGAGACTGTGTTCTCTTTATTTGATTATTTAAAACTTTAGCTCATGGCTGGGCACAGTGGCTCATGCTCATCCCAGCACTTTGAGAGGCTGAGGCGGGTAGATCACCTGAGGTGAGGAGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAATTTACAAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCTTGTAGTCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATTGCTTGATCCCAGGAGGCGGAGGTTGCAGTGAGCCACGGTTGTGTCACTGCACTGCGGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAACCTTAGCTATTACATCTTAAAACTTTGGAAACTCCCGGGTGGTTTTCACTGATAATACATATGCAAGATTTGTGCTTATTATTAACTTAGAATTTATTTAAACTAGAGACATTTGGTTATGAATACTGTATTTATAACCAGACATACTGCGGTGCTTATAAAAACATAAACTGGTCTTTCCATCCATATGCACATTTTCCAATAGCTCTGAAGTCAACATTTATATATAGGAAAAAAGTTACGTACAGACTATGTTATCTTTACATTAATTTGTTGTTTTCTTACCTGCAGAAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAGGTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG
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Subsets and Splits
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