Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_3700
A variant on Chromosome 2 in gene DYSF (dysferlin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCTGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
Task1_train_3701
An alteration has been detected in DYSF (dysferlin) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Distal myopathy with anterior tibial onset
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCTGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
Task1_train_3702
This mutation occurs in DYSF (dysferlin) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCTGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
Task1_train_3703
Here’s a variant in DYSF (dysferlin) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Miyoshi muscular dystrophy 1
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCTGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
Task1_train_3704
A sequence alteration has been identified in DYSF (dysferlin) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; DYSF-related disorder
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
GTGAGGGTGTCAGCCTGCTCTACCCAGGCTTGGAGGACTCCTCCTCCCCAGCCTCTCACTGGGACATCCGGATCCTGAAGGGGACTGTGGGTTTCTGTCCTTCTCTGGTACCCAGTATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCGTGAGTACCTGCCAGCCCCCACCTCTGCCTCCCACTACCTGGAGCTGCCTTGGCCCCCTGCTCACGCCTCATTCTTCCTGGCCCTCCAGTATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCTGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGA
Task1_train_3705
A variant has been detected on Chromosome 2 in DYSF (dysferlin). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Qualitative or quantitative defects of dysferlin
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
Task1_train_3706
A variant was discovered on Chromosome 2, affecting DYSF (dysferlin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
Task1_train_3707
Mutation context: Chromosome 2, Gene DYSF (dysferlin). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Distal myopathy with anterior tibial onset
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
Task1_train_3708
A variant was discovered in gene DYSF (dysferlin), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
Task1_train_3709
A variant found in Chromosome 2 affects DYSF (dysferlin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Miyoshi muscular dystrophy 1
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
Task1_train_3710
This mutation occurs in DYSF (dysferlin) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
Task1_train_3711
The gene DYSF (dysferlin), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Miyoshi muscular dystrophy 1
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
GGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACGTGAGTCGTGGGCAGGGAGGGCTGGGGAGAGCCAGGCCAGGCTGCCCACCATGGACTGCACCCTCCTTTTGGAGGCAGGCTGGGGTCTGTTGATCCCTCTGCTTGCTCCTGCGCTGGTCATAGGAACTTCCGCTGAACTCTCCCAGGACTGAGGCTTGCCAGGCAGCAGTCCTTTCCAGAAGGGCTTGGATGGTCAGACAGTCCTTTATTCTTTTCATTAAAAAAATTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTTGGAGGCTGGAGTGCAGTAGCATGATCGCAGCTCATTGCAGCCTCAACCTCCTGGCCTCAGGTGATCCTCCTGCTCCTGCCTTCTGAGTAGCTGGGACCACAGGCGTGCGCCATCATGCCTGGCTAATTTTTAAATTTTTTGTAGAGACAGGGTCTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATTCTCCCTCCTTGAACTCCCAAAGTGCTGGGGTTACAGGCTTGAGTCACCACGCCTGGCCAGGCCTTTATTCTCTCTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCGGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCACGCCATTCTCCGGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTGCCTGCCACTACGCCCAGCTAATTTTATTTTGTATTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCGCGCCTGGCCCAGGCCTTTATTCTTAAGCCTTCGTTCTGTGTGGTGCCCACTGGGTGTGGCCCCATCCTCAAAGACACCCAGGACAAGCCCATCACCTCCTCTGCACGTGAACCCTTCTCGTGTCTGGGCTGCTCACACATCCCCTGAGTGGTCCTTTCTCTGTCAGTCCCTCTCAGATCCACGTGGTCCTTCTCCATGTCTATTGCCGCCTTTGCCTCTCTCTCCTCTCCTTTTCCTGTTTGGTTGGCATTCAACTCTGTGGTGTTTAACTTTTTTTTACTTAAAAAAATTGAAGTATAACATATTATACAGTCAAGCACTCAAATCTTATGAGCACAACTTGATAAAACTTTATATTTTTACAACTATCCATCAAGCCTCGACTGCCCATCCTCCTTTTGCTGTCTTCAGTTGGCCCCCTTTTCTCTTTATCTTGGGTGATGTGCTCTTTTGTCCCCGATTATCTCGGAGTGTCCCTAGGTCTCCTTTTCACTGTCTGCCTTGGTCTCTTGCACCCTTCCCTCCCCACCCCCCATGTCTCTCATTGTTGGTTGGGGTGAGGCTGACATACGCAGGGGTGCTCTCCAGGAGGTGGTAGATGGATGGGGGCCTCTCCAGCAGAGCAGCAGAGACTCTGACCAGCCCTCCTCCACAGTCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGGTAAAGCAGGCACTCAGGGGCAGGTGGGGTCTAGACATTTGGTCTCTGGAGGCACCTGGTGCTCAGGGACAGGTGGGGCATGTTTCTCTTTGCCCCCTCTTACCTCCGGAGACTTCATGCTTTGATTTCCAAAGGGAAAGTGTGGGGTGCAGTGGTGGCAGGACACTGACTCTGGGGCTCTGCCCTTCTGTCTGGGACTTGGAGGACGTATGTTGTCAAGTTGCATCTTTTCTGCCTCCCTGCTCACATCTGTCTGTCTCCTCTCATTGCTTGCCTGTTCGGTTTTGTCCTTAGAACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGTTCCACAGACCTCAACCGGGCTGTCGATGAGCAAGGTGGGCAGCATGTGGAACCTGGCGAGCCCCATCCCCGGCAAGCTCTCAAGCCATGCTGGTGGGGACGACTGAATGCCAGGGCCCTTCACTGGGCTATTTCACCCAGGGACGCTTCTTGAAGGCACCCCCCACTCCAAGCTGCAAATTAGGACCGAGAGTCAGTGGCCGCTCAAGAGTCTGTGACCATGCCCCAAATTCAGAGATGGTCCCAGGAGAGATGGGGGGAACTGCCAAGCAATGAGTGACCGGTTCCCCCTCCCCCAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGGTGAGCCAGCAGGTGGTGGGTGGGAGTGAGGCCTGTGGTCACAGGTGGCCAGTAGGCACAGATGCAGACCTGCATGCCCACAGACACATGCATGTGTGCACACAGCATGCACAGACACCTGGGACTCACTGGAGGTGCTCACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCATACCCAAAGATCACACCCAGCATACACACAGATCACACCCAGCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGATCACACCCACAGATCACACCCAGCGCATGCACAGATCACACCCAGCACACCCAAAGATCACACCCAGCACACACACACAGATCACACCCAACACACCCACAGTTCACACTCAGCACACACAGATCACACCCAACACACCCACAGTTCACATGCAGCACACCCACAGTTCACACCTAGCACACACAGATTACACCTAGCACACCCAGCACACGCACAGCTCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACACATCACACCCAGCACGCACAGATCACACCCACCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACACGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCACACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACATCACACCCAGCACATGCACAGATCACACCCACCACACACAGATCACACCCAGCACACACAGCTCACACCCAGCACACACACAGATCACACCCAGCACATGCACAGATCACACACAGATCACACCCAGCACACCCACAGATCACACCGAGCATGGATCACATCCAGCACACCCAGCACAGATCACACTCAGCACACACACATTACACCTAGCACACCCACAGATCACACCCAGCACACACACAGATCACACCCAGCACACCCACAGATCATACCCAGCACACCCACAGATCATACCCAGCACAGATCACACCCAGCACACCCACAGATCACACCCAGCATGGATCACACCCAGCACACCCAGCACAGATTACATCCAGCACACCCAGCACAGATCACACCCAGCACATGCACAGATCACACCTAGCACACCCACAGATCACAACCAGCACAGATCACACCTAGCACACCCACAGATCACACCCAGCACACAGAAATCACACCCAGCACACCCACAGATCACAC
Task1_train_3712
Gene DYSF (dysferlin) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Qualitative or quantitative defects of dysferlin
CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGGGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
Task1_train_3713
Given this variant in gene DYSF (dysferlin) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Miyoshi muscular dystrophy 1
CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGGGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
Task1_train_3714
A change on Chromosome 2 affects gene DYSF (dysferlin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Miyoshi muscular dystrophy 1
CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGGGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
Task1_train_3715
Consider a variant on Chromosome 2 in gene DYSF (dysferlin). Determine its clinical classification and disease relevance.
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGGGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
Task1_train_3716
A variant was discovered on Chromosome 2, affecting DYSF (dysferlin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Distal myopathy with anterior tibial onset
CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
CCCTGGGGAGATCAACACCAACACCAATGGCAAAAACAATGGTACTAACAACAATTCTAGTAATAGTTACAGTCACAGCCATTTACTAAGCGCCTCCTGTGTGCCAGGCGCTCTTCAGATGTGTTCTCTCATTTAATTCTCGGAGCAGCTTATCTCAGATCTTCATCTGAGAATACTGAGTCACTGAAGTTGAGTAATCTGTCCAAGGCCTAATGGCGAGGAGGTGGCAGAGCTGGAACTAGAGTTGAGGTCTGATTCTAGGACTAAGCTTCCAACTGCTGTAGGTTGGGGGAAACATGGTGTCATCAGGGTGTCGCTGCACAGGAGTGTGGCTTGGGTTGGCTGTGAAGTGATTCATGGAGGTGGGGGGAAGCTGATATCTTTCTCTGCTTTGACTGCTCCCACCATCTATGGCAGAGCGTCTGTATGGATGTACCATCCTCGCAGAAGGAACCCAACAGAAGTCACTTGGAGAATGAATCCAATGATTTCATTGTTTAATAAATGAGATTACATGAGGCAAGCTCTGTAAAGTGTCTATCACAGTCCTTTTAATTATAGTTAACATTTCCGGAGTGTCAGGCCCTCCATGTATGGATGTGCAGGTTGGGCACTGCACAAGGACACTGTGTCTAAGGGGCTGCATTTCTAGCACAGACACCATATACTTGTATTTATTATAACAATTTCCCAATAGGTGGCAGTAAAGTGTCTTGTTCTAATAAACTCAGAAAATATGACAACTTTCTGACATGGAAGTAAAGAGTCTTAAGCACATTTTTCTCTAATTGTCACAAAGACACCACATGGGCTAATAGTCCTGTTGAAGGTTTACATGAAGCTCTAAAGGTTATACAGGTATTAACTTCCTCAACCCTCACCCTAACCTTTAGAGGTTGACAACTTTTGCTAACCATTTTATAGATGAAAACATTCAGCTATAGGAGGTGAAATAATTTATTTAACGTCATACATAGTGGAGTTAGGACTCACACCTGTGTTCCTAACTGCTGTTATTGGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATCATTGAGGATTCCTGCCCAACTCTTTCTGGCAAACTCTTAGTAGGCCAGAATTGACACACACTTGCTCGTCTCTGTAGTGGAGAGAGACCCTCCCCAGCAGTGTGCTTTGGTGCTCTGGGGAGCCCCTTCTCCCATTGCTCAGTTGTTCTCTTTCTGGCTCACAATGCAAGTATTCTGTCCTCACAGGGGACAGGCGTGAGAGGTGGGGGTTTGGGGCTGGAAGGTGTCTAGGGGTGGGGAAGAAATACCAGGACAGATGATAACCCGGAAGGGTCTGAGCCAGGAGGCAGGAGAACCAGGCTGGCGGGCAGGCACATGGTCCTCTCTGGGACTGAGAGGGGCTGAAGTGGATCTGCCAGGATGGAATAGGCAGTGTGTGCACGCATATGCTGTGTGCGTATCAGGGAGGGGCAGACCCGGAGCAGCTCAGGGGGCATCAGAGCCTGCATTATGGGAGGAGGGGTGACGGGATTCAGTTGGAACAAGGTGACCTGAACCCTGGATGAAGGTGCTGGAATTGTGATCCTGGAGAAGATGATGCCTGGCCGAAACTGACTTAGCTTTTTCGTTTCTGCCTCCCTGTTTGTCCACTTCTGTCTTTCCTTCTCTGTTTCTCCCTGCACTTGGCATTTCTTTCTGTCCTATCTGTCCTTCTCTCTTGTCTTTTTGCCTTGGTCTTCCTTCCACCTTTGTCTCCATTCTACCTGCTGTCCACTGCAGTCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGGTGAGCCGTCCGGGCCTGGGCGTGGGGGCTGGGAGCAGCCTGCCCTTCCCCTTCCTGGCCCCAGCCTTTCCTGGGGCCCGGGGCCTTCTGAGCCACTCTCCTCATTCTGTGTGCTTAGATCCTGGCATGGGGCCTGGGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTGGTGAGCCCCACCTCCCTACTGTCCCCTTCCAGAGTCCTGGGGCTAGAAGTTCTACATGTCCCCGAGCAGCCTGGGGCTTGTGCTCCAATTCCCTGCGGGATCCAGGGTAGGACCCCTCACTTTCCTGTGAACATGGGGAGAAATGCTCATACCCTCCTCACTGGAAGGGTTCAGGCCTCTGAGTAGGACAAACGGGGCCAACCTGCTCCTCCTATACCCAAATCCTAGATCAGCGAAAGTCCCAAGGAGACATCCCCTGGCTGTTGTCCCTCTGGGACAGGTTTCAGTCCCCTGGAGCGCCCTTGGGGACCTGCTAGGGCTTGGCTTTCCAGGATTCCTCCAAACCTTTTCTGACCATGTCCTCCCCCAGCCTGGGCCCCCTCAAAGGAGCTCACCCCCACAGCCCTCAGGCCCTCCAGGCCTCTCCACCTCCCTGGGATGCCTAGACCTAGTGGCCAGAGTAAGGCAGGTCTGAGGAAAAGAAAATGGTTTGCAAGATGAAAGCGCTGTAGAAATTCCAGGCCCAGTGGCTGTCAACAGAAGCCTCCTCTTGGCCGAGCCAAAGCCGCCCCTGAAGGAGAGCATATAAATTATTTCAAGTTGTGTTCAAAGTGCTTTTGGGGTGTGTGGGGGGAAGAATCTGGGTCTGTAAGCCAACTCTTGAGTATCCACTTGGGGGGACTGTCTGTAAGAAATGTTGAGTCCCGGGCCAACTCCCCTCGCCCGCTCCCCAGCCAGTGAGGGAGCGCAGCCTCGTTTCCACTTCAGGCTGAACAGGATGCATTTGGAAGGTAAAGCTGTGGGGGGAAAGCCGGCCTCTGCATGCAGCATTCAAGGGGCCGACAGAAAAGGTGTGTGGCTTCGCTCGACTGCCCAGCTCTGGGCCAGCCACCATTTTGGATTTCTGGCTGTGGGGATTATCTGCGGTTTATAGTCATTTTCTGCTCTTTGGGCTTGACCTGGAGACTTCCCAGAGGGGGATTCAGGCCAGTGCGTTCTTCCTCCTCCACCCAGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGGTAGGGGAAGGGGAGATGATGGGCAGGTCAGGGAAGGGGGAGCCTCAGGGCCAAGCTACCCTTCCTAGTTGAGATGCATCCTGAAACCCTTCTCTTACGGAGACCTGAATGAGAAGTGGTTTCTGCTCTGCTAGACCACAGGGTGGAGACCTTCCTTAGGGCAGAGCCTAGCTCTGGGTGGGGGGCACCAGGAGCAGGTGACTGATACCCGTTGGAGCTGAGGGGTGAGGGCTCAAAGTGGGCCCAGGGGGAGGGAGAGAGAGGGCAGGGAGACAATGATGCGGGGAGGGAGGAAAGAAATGTGAGGAGAGGAAGACAGAAGTGGGAGACAGAGCATGTGAAGGAGGATGGGAGAGATGGAGATGAGAGAGGGACTTATTGGGAAGTAGGAAGAGAGAGATACCGACTGAGAAATGTGGAGAGACTGCAGGGTCTTGTCTTGGTCCCTTGGTTGAGCCCTGGGGCTGGTGAGGGGCGAGCCTTTTGAGAGAGCCCCTCTCAGGCCTGGATGGCTCCCTCCCCTGCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGGTAGGATGGGCATCCTCCAGGGAGGCCTGGGTCACCTTTCCCCTCCATTCCTCATCAATTCCCACCCCTTCTCCCCTACCCTTCATTATCACACAGCCTCTATACACATCCCCTTCTGGG
Task1_train_3717
Consider a variant on Chromosome 2 in gene DYSF (dysferlin). Determine its clinical classification and disease relevance.
Pathogenic; Qualitative or quantitative defects of dysferlin
GAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTTTTCAGGGCCTCTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATCCCCATGCCCCCAAGACAGTTCCACCAGCTGGCCGCCCAGGGACCCCAGGAGTGCTTGGTCCGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACCCCAATGGAAAGGTAACTTTCCTAGAGCCCTCACCTCCCCCAGAGTAGCAGGCTCAGGTACAAGTGGCCTATAGAACCTGGACACAAACTCTGCCTCAGGGAGTTCATAGTAGGTTGGGAAACAGACAAACACACAAAACTGAGAGGTGCCTGGATGGAGTTGTGTTAAGGACCAAGTGCTCTAGAAGGTCAGGGAAGGCCAGTGTCAGTACAGGACTTTGGGAAAATGGGGAAGGCTTCCTGGAAGGAATAGGACTCTTAGGATAGATGAGATTTTGATAGGCTGGGAGGGAGAAGAAAATAGTGTTTTAAGAGGGGCCAAAAGCATAGGCAAAGGTTTGAAAGAAAATTGCTTAATGTGTGTCTAGAACAAGAATAAAGCAGAAAGATAAGTAAGGCTGAGGGTATAGGTTGGGACTCTCAATGGTTAATGGGGAGGAGTGATGGGGGAAAGGAGCAGCGTTAGTGACTGCTATGCCTAGTCATGGCAGAGTCCCAGGTAAAAGGGAATGCTGGTAACACTCACCCGGTCTTTATTTAAAATTTTGATATTTTGTTCATCATGGACTATTGACACTGATTTTAATTTTTAAAATATTTCATTAAAGTACTGTTTATCTTAATAACTATTTTGGCCCTTCCTTACATTTTGTGCCCAAGATAAGTGCGTGAGCTGTCTCCCTCTAGTCATTGCCTGAGATGGAGAGGGGAGATTTGAAGGAGGAAAGGAGTCTGGAGTTATGGGGAGGTGACAGAGGTGGGAGGCAGAGTAATGTTGGGAAGAGAAAGAAAGAGGAAAGAAGAGAGGCAGGGGTGGGGCCTGATTTGCCTTTACAGGCATGAGGCTAGGGTCCCCTCTTGTCTCCTGAGGCAGGTTTAGGCCCAGCATGTGTCCTTCAGGTGGTGGGCGGAGGCCTGGTATCCCACCCTGTAGCCTCACCTTTCAAGGGACAGAATGGAGCAGTTCTCAGCCTAGGCACCACTGACGGCCTCCAAGGTGTGGTCATGGCCAGTGGGTTGGTTTATATGCTTGAAGCCTTCCTGATGCTAGACTAACCCTGGGCACTCTGCAGCCCCAGCTGCTGGGTCGCTGGCTGAGGGGTGCTGCTGCTTCCAGGAAGCATGGAGGGAGACCTCCCTGGGCTAGCCTAGGCTGACATAGGCTGACCACCCCTCTCTCATTCCATATGCTTAAGCAGAGGTCACAGAGAGGACCCCAGCCTGGTCTCGTCATGTGTGTAATGCAGACTGTTGTGTTTCTGATAAGGGCCTGGCCTCTCCCAATGGAGCAGTAGATTGGGAGTGTGAAGGACTCAGGTGCCCCATTCCCACGGCTGGAGCCAAGACCAGAAGCCCATGTCAGGGTCCAAGTGGAGTGGTGTGGTGTGTGGGAGGGGGCCCTGTCTTGGCAGGACACAGCCCACATCTCAACTTCCTGATGGCTGCTCCCTCATCCCATCCAGAGGCAAGGCACTCATGAAGCCTCAAAGACAGGTTTGGAAAGTGTTTTCACAGAAGTGTTTTGTCTCCTCCTCCAGTGTGATCCTTACATCAAGATCTCCATAGGGAAGAAATCAGTGAGTGACCAGGATAACTACATCCCCTGCACGCTGGAGCCCGTATTTGGAAAGTAAATTGGGGCATCTTGGGTCTTGGGGTGGAGGAGCCAGACAGGATAACCCACAGTCTAGTGGGGGAGATGTGACTGGCACTGTGAAGTCCGTATCTCTTGGAGCAAAACTGTATTCCTTAAATCTTGCATGTCTATGGGGGCATAGCCTCAGTTAGCCCTTCTTTAGCTGCTAAAGACTTGATCCCAACAGAAGCTCCTAGTTAAATGCTAAACAATTACGTCTAAGATCAGAAATCTACATGGCTTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATAGCAAGACCCCATCTCTACAAAAAATAAAAAACTTAGCCAGGCATGGTAGTGCATGCCTGTGGTTCCAGATACTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTAGGAGTTTGAGCTTACAGTGATCTGTGATCAAACTACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGTAGAAATCTGTGTGTAAGCTCAGAAGATGCATTTGCTAATTCTTTTTTTTTTTTAAGATAAACTTTTACTTTGGAATAATTTTAGATTTACTAAACAGTTACAGAGACAGTGCATAATTTCCACTTACTCAATTTCCCCCACTGGTAACCCCTTACTCAATTTCCCCCACTGGTATCATCTTACCTAACCATGGGACATTTGTCAAAATGAAGAAATCATCATTGGTGCATTACGTTTAACCAAACTAGACTTTTTTTTAAAGGATTTCATGTTTTCCCACTAATGTCCTCTTACTAATGTCTCAGGATCCAATCTGTTATACGACATTGCATTTAGTAATTAATTCTCTGTAAGTGTCCCACATGTGTTTGTAGCAAGAGCTAGAGGAAGAATGTAGACCCAAGATAGTAAAATGATTCCTGAAATCTGAGAACAAGGAAAGGAAGAATCAATGCCCATTGCATGGGAGTAATTCCTAGGCATCCTGAATTGCTGTTTGGATGTGAGCTTGTTTAGGCCAGAGAGGGGAGGATGCAGAGGGAGGGTGGCAGCTATTTCTCTCGCACCTGCAGAAGACACCTACTGTTCCGATGTCATCAAGTCACATATTGCACTTATAAACCGGGGTCTGTTGAGTTAGTTGTGGTCACTCACCCTGCAGTGAGGACCCAGTCTCCTTGGGGAAATGCAGCTTTTGAAGGTGAACCAGCCCTGGCCAGTGATGAGCTCCCACCAAGCAGGGATTGGAGGGAAGTGGTAGGTGGGAGAGAGGAACTCTGTATGAGTTCCAGGGGCTGGCGAGCTCCAGGGGCTGGCGCAGGACCTCAGGCTAATGCTGATGGGGCAGTGGGCAGGGCCTGTTCCACAGTGGGTGGGCGTGTGTCAGGACTCAGGGGAGATAGGGGAGCCAGTGCAGGAACACACCCCTCCCATGCCTGTTTCCCCATCTCCCCCCAATCCTGGGCAAGCTGGTCTGCCTGGTGCTTTAAGCCTCCTTCAGATCACAACAGAAACCCTTCCATTCTATAACCCATGTGTCAGACGAACACAACGCATGAGGTGGTTTTTGTCACCATGTATTCCATGGCGTTACCTTCTCCTTTCCCCTGAGGAAACTGACAGGCAGGTGACTTTTCTGCTCACATTGAGCTCAGCCACTTTAACTCACGAACCCAGTCTCAGGCCATAACCCACTGCCCATTTGTATGGAATCCCGAGCTCCCTGATGGCTCTAGGGGAGTGTGTCCCCTCTTTGGATGCAGTTGTGTGTGTATATGTGTGTATGTATGTGTGTGTATGTGTGTATATGTGCACATATGTGCGTGCGTGTGTATGTATTTGTGTGTATGTGTGTGTATATGTGTATGTGTGTCTGTGTTCGTGTGTCTGTGTGGTGTGTGTATATATGTGTGCATGTGTATTTGTGTGTATACATGTGTGTAGGTGTATGCGTCTGTGTGTGTCTGTGTGTCTGTGTGGCATGTGTGTATTTTGTGTGTATGTGTCTCTGTGTCCATGTGTCCGTGTATGTGTGTGGTGTGTGTAT
GAAAGGCAGTTCTTACATGGTAGTGGCAAGAGAAAAGGAGGAGGAAGCAAAAGCAGAAACACCTGATAAACCCAACAGATCTCATGATACTTATTTACTATCACGAGAATAGCATGGGAAAGACTGGCCCCCATGATTCAATTATCTCCTCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGACACAGCCAAACCATATCAACAATGATGATAAAAATGAAAATTAACCCTTCCTTCTTTTCAGGGCCTCTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATCCCCATGCCCCCAAGACAGTTCCACCAGCTGGCCGCCCAGGGACCCCAGGAGTGCTTGGTCCGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACCCCAATGGAAAGGTAACTTTCCTAGAGCCCTCACCTCCCCCAGAGTAGCAGGCTCAGGTACAAGTGGCCTATAGAACCTGGACACAAACTCTGCCTCAGGGAGTTCATAGTAGGTTGGGAAACAGACAAACACACAAAACTGAGAGGTGCCTGGATGGAGTTGTGTTAAGGACCAAGTGCTCTAGAAGGTCAGGGAAGGCCAGTGTCAGTACAGGACTTTGGGAAAATGGGGAAGGCTTCCTGGAAGGAATAGGACTCTTAGGATAGATGAGATTTTGATAGGCTGGGAGGGAGAAGAAAATAGTGTTTTAAGAGGGGCCAAAAGCATAGGCAAAGGTTTGAAAGAAAATTGCTTAATGTGTGTCTAGAACAAGAATAAAGCAGAAAGATAAGTAAGGCTGAGGGTATAGGTTGGGACTCTCAATGGTTAATGGGGAGGAGTGATGGGGGAAAGGAGCAGCGTTAGTGACTGCTATGCCTAGTCATGGCAGAGTCCCAGGTAAAAGGGAATGCTGGTAACACTCACCCGGTCTTTATTTAAAATTTTGATATTTTGTTCATCATGGACTATTGACACTGATTTTAATTTTTAAAATATTTCATTAAAGTACTGTTTATCTTAATAACTATTTTGGCCCTTCCTTACATTTTGTGCCCAAGATAAGTGCGTGAGCTGTCTCCCTCTAGTCATTGCCTGAGATGGAGAGGGGAGATTTGAAGGAGGAAAGGAGTCTGGAGTTATGGGGAGGTGACAGAGGTGGGAGGCAGAGTAATGTTGGGAAGAGAAAGAAAGAGGAAAGAAGAGAGGCAGGGGTGGGGCCTGATTTGCCTTTACAGGCATGAGGCTAGGGTCCCCTCTTGTCTCCTGAGGCAGGTTTAGGCCCAGCATGTGTCCTTCAGGTGGTGGGCGGAGGCCTGGTATCCCACCCTGTAGCCTCACCTTTCAAGGGACAGAATGGAGCAGTTCTCAGCCTAGGCACCACTGACGGCCTCCAAGGTGTGGTCATGGCCAGTGGGTTGGTTTATATGCTTGAAGCCTTCCTGATGCTAGACTAACCCTGGGCACTCTGCAGCCCCAGCTGCTGGGTCGCTGGCTGAGGGGTGCTGCTGCTTCCAGGAAGCATGGAGGGAGACCTCCCTGGGCTAGCCTAGGCTGACATAGGCTGACCACCCCTCTCTCATTCCATATGCTTAAGCAGAGGTCACAGAGAGGACCCCAGCCTGGTCTCGTCATGTGTGTAATGCAGACTGTTGTGTTTCTGATAAGGGCCTGGCCTCTCCCAATGGAGCAGTAGATTGGGAGTGTGAAGGACTCAGGTGCCCCATTCCCACGGCTGGAGCCAAGACCAGAAGCCCATGTCAGGGTCCAAGTGGAGTGGTGTGGTGTGTGGGAGGGGGCCCTGTCTTGGCAGGACACAGCCCACATCTCAACTTCCTGATGGCTGCTCCCTCATCCCATCCAGAGGCAAGGCACTCATGAAGCCTCAAAGACAGGTTTGGAAAGTGTTTTCACAGAAGTGTTTTGTCTCCTCCTCCAGTGTGATCCTTACATCAAGATCTCCATAGGGAAGAAATCAGTGAGTGACCAGGATAACTACATCCCCTGCACGCTGGAGCCCGTATTTGTAAAGTAAATTGGGGCATCTTGGGTCTTGGGGTGGAGGAGCCAGACAGGATAACCCACAGTCTAGTGGGGGAGATGTGACTGGCACTGTGAAGTCCGTATCTCTTGGAGCAAAACTGTATTCCTTAAATCTTGCATGTCTATGGGGGCATAGCCTCAGTTAGCCCTTCTTTAGCTGCTAAAGACTTGATCCCAACAGAAGCTCCTAGTTAAATGCTAAACAATTACGTCTAAGATCAGAAATCTACATGGCTTGAGCTCAGGAGTTTGAGACCAGTCTGGGCAACATAGCAAGACCCCATCTCTACAAAAAATAAAAAACTTAGCCAGGCATGGTAGTGCATGCCTGTGGTTCCAGATACTTGGGAGGCTGAGGTGGGAGGATCCCTTGAGCCTAGGAGTTTGAGCTTACAGTGATCTGTGATCAAACTACTGCACTCCAGCCTGGGTGACAGAGCAAAACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAGTAGAAATCTGTGTGTAAGCTCAGAAGATGCATTTGCTAATTCTTTTTTTTTTTTAAGATAAACTTTTACTTTGGAATAATTTTAGATTTACTAAACAGTTACAGAGACAGTGCATAATTTCCACTTACTCAATTTCCCCCACTGGTAACCCCTTACTCAATTTCCCCCACTGGTATCATCTTACCTAACCATGGGACATTTGTCAAAATGAAGAAATCATCATTGGTGCATTACGTTTAACCAAACTAGACTTTTTTTTAAAGGATTTCATGTTTTCCCACTAATGTCCTCTTACTAATGTCTCAGGATCCAATCTGTTATACGACATTGCATTTAGTAATTAATTCTCTGTAAGTGTCCCACATGTGTTTGTAGCAAGAGCTAGAGGAAGAATGTAGACCCAAGATAGTAAAATGATTCCTGAAATCTGAGAACAAGGAAAGGAAGAATCAATGCCCATTGCATGGGAGTAATTCCTAGGCATCCTGAATTGCTGTTTGGATGTGAGCTTGTTTAGGCCAGAGAGGGGAGGATGCAGAGGGAGGGTGGCAGCTATTTCTCTCGCACCTGCAGAAGACACCTACTGTTCCGATGTCATCAAGTCACATATTGCACTTATAAACCGGGGTCTGTTGAGTTAGTTGTGGTCACTCACCCTGCAGTGAGGACCCAGTCTCCTTGGGGAAATGCAGCTTTTGAAGGTGAACCAGCCCTGGCCAGTGATGAGCTCCCACCAAGCAGGGATTGGAGGGAAGTGGTAGGTGGGAGAGAGGAACTCTGTATGAGTTCCAGGGGCTGGCGAGCTCCAGGGGCTGGCGCAGGACCTCAGGCTAATGCTGATGGGGCAGTGGGCAGGGCCTGTTCCACAGTGGGTGGGCGTGTGTCAGGACTCAGGGGAGATAGGGGAGCCAGTGCAGGAACACACCCCTCCCATGCCTGTTTCCCCATCTCCCCCCAATCCTGGGCAAGCTGGTCTGCCTGGTGCTTTAAGCCTCCTTCAGATCACAACAGAAACCCTTCCATTCTATAACCCATGTGTCAGACGAACACAACGCATGAGGTGGTTTTTGTCACCATGTATTCCATGGCGTTACCTTCTCCTTTCCCCTGAGGAAACTGACAGGCAGGTGACTTTTCTGCTCACATTGAGCTCAGCCACTTTAACTCACGAACCCAGTCTCAGGCCATAACCCACTGCCCATTTGTATGGAATCCCGAGCTCCCTGATGGCTCTAGGGGAGTGTGTCCCCTCTTTGGATGCAGTTGTGTGTGTATATGTGTGTATGTATGTGTGTGTATGTGTGTATATGTGCACATATGTGCGTGCGTGTGTATGTATTTGTGTGTATGTGTGTGTATATGTGTATGTGTGTCTGTGTTCGTGTGTCTGTGTGGTGTGTGTATATATGTGTGCATGTGTATTTGTGTGTATACATGTGTGTAGGTGTATGCGTCTGTGTGTGTCTGTGTGTCTGTGTGGCATGTGTGTATTTTGTGTGTATGTGTCTCTGTGTCCATGTGTCCGTGTATGTGTGTGGTGTGTGTAT
Task1_train_3718
Chromosome 2 houses a mutation in gene DYSF (dysferlin). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
CCATGGTGGGCTCTCGCTGTATCCCTCCCTCTCTCATCAGACCCTCTGCTACCATAAAAGACCCAAGCGGACATAACCCACAGCAGCAGGCTGTGGGTCTCTCCAGGGCAGCACAGATGGGCTCCACTTGCACTTGGTACTTTGAGGATCAGTACTGACCTGTGATGCCACTGTGAAAATTAGAGGTCAGGGCACAGCCAGGGTCAGAGTGCAGTCCAAGGCCAGGTTGGGGCCCATCCGAGGGCAAGATCAGAGGTGAGTCTGAAGCCAGTGTCAGGGTCAGAGTTAGGCTCAGTCTCTTTCTGGCATTGGCTGGTCTGACTCTGGTTGGAGTTTGGGGTACAGTCCACTTCTCAGAAACAGTTTTCTACTTGAATTGCACCAGCCTGGCAGCTTGACCCTGATGGTATCTTCCAAGCTCCCCACTGACAGCCCATGCATCTAAAGGATCCCAAGGCAGGCAGGCCTTGTAGTGCCCCCAGTCCTGCCCAGGGTCCTGCCCAGCTCTCCTGGCTGAGAATCCCGCCACATGCTCTCCGTGTGTCTGAGATGCCCGCAGGCCTGCATCACCCACTCAGAGCAGCTCAGACTCCCCAGAGGTGTTTACAGGCCCAGCTGGCCCCTTGCCTCCTGGTTGCTTCAGAGATGTTTGATGTCAGAGCTGGTGCCAAGGTTATAAAAGGGAAATGATGGCTTTGATGCCCCCATCCCCCACCCCCTCCTCCTTCTCATTCTGTTTTCCTGACTCTCCCAGGTCATGGCTGAGCCAGGCTCGGCCATAAGGCGCCCCCAGCCCTGCCCCCCTTCATTCCCTTTTCCCATAGAATGAGCATCTGTTTTCGGGGGAGTCTCATTTCCTTCTACTAGTCTGTGAGCAACTTTAGCACAGGGCCATGGCTCATGGTCATAAAGTCATAGGAAACAAAAGCCAGAAAGCTAGAGATGGTGAGGTCCAACATCTGCCTGCTTTTACAGATGAGGCTGGTAAGACCAAGAGTGGTGAACGACCTGCCCAACGTCACCCAACCAGCTAGGGGCAGAGCCAGGTTCCTGGCCCTGTGTGCCTTCTGAGGTGCATGCCTCTTCCTTTGAGGCCCCTACTGAAATGGGCAGGGCAGGTCTGATGGGTGAACACATGTGTGTGTACATATAGGTGTGCATGAGCACACCTGGGTACATGTACAGATGTGTGTGTCCACCATCAGCTCCCAAAGCCAAGGCCTTTGACATAGTGGGCTCCAAGTTCATGTTGTTGGATGGTTGGCCAGGCTTCTCTGGGTCAGGAATACCCCATGTCTTCTCCCCACCTGTAGCACCAGTTTTTGACCCATTCCCTAGCAGGGAGGAGCTGTACCTGGGACGCACCTGGGGACAGGCACCTAGGTTCATGCCTAGTCACGCACCTTTCCTAAGTGAGCATGTGATCTCAGCTGCTCTGCTGCTAGTTGTGTGGCTTCTCTGTGCCTCAGATTTCTCTTCTATAAAATGGGGATAATAACAGCACTCAGCTTCTAGGATCCTCATGAAGACTAAATATGTTAATAGCTTGAAGAACAGTGTGTGGCACGTGGTTCCTGCTCTGGAAGTGTTTGCTGTTATTGCTATTATTTTAGCTACTGCTAATAGTAGAACAACTTAAGTGAACGAGAGCATAATACTAACAGCACTAAGATGCCAAATCTAGGAGTAAAGGTTGCTGAGGCTTAGAGTTGGGAGCAGTCAGGGAGAGCTTCCTGGAAGAAGTAGGCTTTGGAGACAGGAGGATTTGTATGGTGGAAAATAGGAATAAAAACTATAGAACAGGCTTGGTAGAAATGATGGCAATGGGGAATCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTG
CCATGGTGGGCTCTCGCTGTATCCCTCCCTCTCTCATCAGACCCTCTGCTACCATAAAAGACCCAAGCGGACATAACCCACAGCAGCAGGCTGTGGGTCTCTCCAGGGCAGCACAGATGGGCTCCACTTGCACTTGGTACTTTGAGGATCAGTACTGACCTGTGATGCCACTGTGAAAATTAGAGGTCAGGGCACAGCCAGGGTCAGAGTGCAGTCCAAGGCCAGGTTGGGGCCCATCCGAGGGCAAGATCAGAGGTGAGTCTGAAGCCAGTGTCAGGGTCAGAGTTAGGCTCAGTCTCTTTCTGGCATTGGCTGGTCTGACTCTGGTTGGAGTTTGGGGTACAGTCCACTTCTCAGAAACAGTTTTCTACTTGAATTGCACCAGCCTGGCAGCTTGACCCTGATGGTATCTTCCAAGCTCCCCACTGACAGCCCATGCATCTAAAGGATCCCAAGGCAGGCAGGCCTTGTAGTGCCCCCAGTCCTGCCCAGGGTCCTGCCCAGCTCTCCTGGCTGAGAATCCCGCCACATGCTCTCCGTGTGTCTGAGATGCCCGCAGGCCTGCATCACCCACTCAGAGCAGCTCAGACTCCCCAGAGGTGTTTACAGGCCCAGCTGGCCCCTTGCCTCCTGGTTGCTTCAGAGATGTTTGATGTCAGAGCTGGTGCCAAGGTTATAAAAGGGAAATGATGGCTTTGATGCCCCCATCCCCCACCCCCTCCTCCTTCTCATTCTGTTTTCCTGACTCTCCCAGGTCATGGCTGAGCCAGGCTCGGCCATAAGGCGCCCCCAGCCCTGCCCCCCTTCATTCCCTTTTCCCATAGAATGAGCATCTGTTTTCGGGGGAGTCTCATTTCCTTCTACTAGTCTGTGAGCAACTTTAGCACAGGGCCATGGCTCATGGTCATAAAGTCATAGGAAACAAAAGCCAGAAAGCTAGAGATGGTGAGGTCCAACATCTGCCTGCTTTTACAGATGAGGCTGGTAAGACCAAGAGTGGTGAACGACCTGCCCAACGTCACCCAACCAGCTAGGGGCAGAGCCAGGTTCCTGGCCCTGTGTGCCTTCTGAGGTGCATGCCTCTTCCTTTGAGGCCCCTACTGAAATGGGCAGGGCAGGTCTGATGGGTGAACACATGTGTGTGTACATATAGGTGTGCATGAGCACACCTGGGTACATGTACAGATGTGTGTGTCCACCATCAGCTCCCAAAGCCAAGGCCTTTGACATAGTGGGCTCCAAGTTCATGTTGTTGGATGGTTGGCCAGGCTTCTCTGGGTCAGGAATACCCCATGTCTTCTCCCCACCTGTAGCACCAGTTTTTGACCCATTCCCTAGCAGGGAGGAGCTGTACCTGGGACGCACCTGGGGACAGGCACCTAGGTTCATGCCTAGTCACGCACCTTTCCTAAGTGAGCATGTGATCTCAGCTGCTCTGCTGCTAGTTGTGTGGCTTCTCTGTGCCTCAGATTTCTCTTCTATAAAATGGGGATAATAACAGCACTCAGCTTCTAGGATCCTCATGAAGACTAAATATGTTAATAGCTTGAAGAACAGTGTGTGGCACGTGGTTCCTGCTCTGGAAGTGTTTGCTGTTATTGCTATTATTTTAGCTACTGCTAATAGTAGAACAACTTAAGTGAACGAGAGCATAATACTAACAGCACTAAGATGCCAAATCTAGGAGTAAAGGTTGCTGAGGCTTAGAGTTGGGAGCAGTCAGGGAGAGCTTCCTGGAAGAAGTAGGCTTTGGAGACAGGAGGATTTGTATGGTGGAAAATAGGAATAAAAACTATAGAACAGGCTTGGTAGAAATGATGGCAATGGGGAATCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGGGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTG
Task1_train_3719
This mutation occurs in DYSF (dysferlin) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2B
TCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAAC
TCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGAGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAAC
Task1_train_3720
This sequence change occurs on Chromosome 2, altering DYSF (dysferlin). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Qualitative or quantitative defects of dysferlin
CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGG
CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTAAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGG
Task1_train_3721
A sequence alteration has been identified in DYSF (dysferlin) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Qualitative or quantitative defects of dysferlin
CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGG
CTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTGAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGG
Task1_train_3722
Gene DYSF (dysferlin), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Qualitative or quantitative defects of dysferlin
CAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGGAATCTGCATGTAGGCACATGATGGTTGGAGAAACCCTGTTGGATGTGACAGAGCTCTGTCGCTGGAGTCAGGATTATGGACTCTTCCTGTGACCTTGGCAAATCCCTCCTGCTCACATGAGGAAGGGGCTGCACTAGGTTAGCTCTGGCCTTCTGTGGCTGGGACTGTGCTTAGGGGAGCACTGTCATCTTCCCTGGCTGCTGTATATTAAGCCAAGCCTCCTTCTGAAAAGCCAAGGGGAGGGGAAAGGCAGGTCCAAAGTGGCATCACCACCACCCATGACATGCCTAAGCCCAGCCCCTGCCAGCTGCACCCTGCACTGCTAGGCTACTGGGCAGCAGATCTAGGCCTCCAGGGGCCTGGGGAAGGAGGCCCTGCTGCCTGGCTGGGAGAGGAAGGAAAGATTTCCAGTCACTTCCAGCCTGTGGTCCTTCCTCATCGCTGTGGGCAGAAGCAGAGTGGTACTGTGGGGGGCCTGGTCAGAGCTCCTCCCTGTCTCCTGTCCCCCCAGCAGCGGGCCACTCTCCTTTGAGTTCTTCTGGAAGTTGTCCTCTTTAAAATATGGACCCTGCTTCCCCTCTCCCAGGGCTGGTGTGGGGATGTCAGATCCTAGGTAAGGGGTCTAGGGATGAAGGGGGTGGCCTGGGCCTGAGGCTGCAGACTGGCTTTGCTCACAGGTCTTTGCTACAAGCTGAGCACATCCTGCCTCCTTCCACCCAAGTCACTCATTCATTTGGCCAGTACCAGATGATGAGGGCCGGGCCCTGGTGACCCTCACCTGGCTTTCAGGCCATGGGACAGAGGCTGCCTGCCCCAAGCCAGGGCCTAGTGGAGAGGGGCCCAAGGACAGGGCAGCTTCCTCCAGTTGGCCTAATCCCCTACCCTCTTGGAAATTCCCTTGGGAGGGGTATGAGGGGGCAGCCTGTCTGATTCCTCTCAGCTTCCCCCTCAGAGCCAGCCGGGAGCAGGGCCAGCGTGGGGAGGCAGGAGGCGTTTGGCGGGGAAGGAGGGCCGGCTCTGTTTCCAGAGTTGGCTTTCCCCAGCCGGCGCTGGGGAACATACTGTCCCAATTAGGAGCCCTGTATTGTGTTGTATGTGTTTTCATGGTTTTTGGGGGGAGAAGTGGGGAGGGGAGGATACTGTCAATCCTGCAGCAGGCAGGGCTCAATCAAGGGTGCCCTGTCTCTAGTGCTGGGCTGTGCCGTGGGTCATCCACGACAGCCCATCCCCAACTCTCTCTCTGCTTTCTGGACAGGGGTGTGATGACCCGTAAGCCCTGGGCTGCCATGTGGGGGAGGACCCTGGGCCCCACCTTCAGCACCTGTCTGATGGAAGAGGCCAGGTCCAGGGTGCTCAGAGTCCTCTGGGCAGTCAGCTGGAACCTGGAAATGGGCCTGGCTTGATGGGGGAGAAGACAGAGCAATTTGGGCAGCTTTGGCCCCCAGGTGGGAGGGTGCGGGTGGAGTTTCGGAGGGTATGGGTTTGCCTGATGGGCTGGAGCACTAGGCAGGGCGGAGTGTTGAGCCCCACATGGTATGGATGGCAAGTGGTGAGGGCGAGGCGTGGGCAGGTGGTTGAAGAGCCACGAGCGTCCTCTCCCAGCCTCTTGCCTGTTGGCAGCTTAGCCCCATCCTCTGAGCCCCAGGTCTGGGACAGCTGCTCTGGCTGTGCCTGCCCCAGTGGGATCACCATGGGTCCCTGTCTCCTCCCTCCCTCCAGAACTATGCTGCCATGAAGCTGGTGAAGCCCTTCAGCTGAGGACTCTCCTGCCCTGTAGAAGGGGCCGTGGGGTCCCCTCCAGCATGGGACTGGCCTGCCTCCTCCGCCCAGCTCGGCGAGCTCCTCCAGACCTCCTAGGCCTGATTGTCCTGCCAGGGTGGGCAGACAGACAGATGGACCGGCCCACACTCCCAGAGTTGCTAACATGGAGCTCTGAGATCACCCCACTTCCATCATTTCCTTCTCCCCCAACCCAACGCTTTTTTGGATCAGCTCAGACATATTTCAGTATAAAACAGTTGGAACCACACAGCAGTGTCAGTGTGTGTATCTCTACAGTACCTGAACAGGGAGTGACTGTGAAGGGGGATATGCCTGGGTGGGCGGGGAGGGTGGACGGGGTATGGGTGCTGCTTCCAGCCCAGCCTTCTGGAGGGAGAGGCAGCTGAGAAGCAGTGGGTGGGGCCCGTGGAACTGCTTCTTCTTTCACAAGACTGGTTGGGGGTGGGGTGGGCTTGGGGCTTGGTGTCTGGTTTGCCTTAGCCCCGGCCTCCTCTGCCTCCTCTCCAATCCAGGACTTTCCCCTTTCCCCCTGCCTTCTCCTTACTCGGGCACCCCCCCCGTCTCCCAGGCTGCCCTTTGCCTAGGAGGGCAGCTACCTGTATCTTCTGGTTTCTTTGACCATGCTAGGGAAGAGGTTCCATTTTATAGAAAGGGAACTCCAGTGGGGAGGGTTCGGCCAGAAATCCCCTAGGCAGGGAGGCCACTGTACCTCTGGCTTTGGCCTATTCCCATAGAATCCTGGGATTTCTTGCGATTCTCTCTCTCTGCTTCCTCTCTCTGCTTTAAGAATCCGATCTGGACAAAGACACCTTTTTCTTGTGGTCTAAAGCTTAGTTGTAGCCATTGGTTTGACATTTCCTGCAGGAATCAGGCTTAATCTACAGAAGCAGCAGGAACATACTTGGAGAGAAAGCCAAGCGCTTGAAAACATCACGTTTCCAAGAGTCTCCTGCATCTCTCGCCTGAGGGGCTGAACTCTGTGAGCACAGAGCTGGCAGCCTCCACTCCCGTTACCCAGCGGGTGTCCCCGGTTTTCCACGGTGACCCTGCATCCTGGCCCAGTCCTCCTTGGCTCTTCACTGATTGGCAGGACTGGGGGTGGTTGGGACAGGGTTGATGTCTGGAACCTGCCTGGGTGAGGGAGCTACACCTTGAAAGCAGGGTGCTTCTTACTTCAGGAGAGCTTCAGGCTAGAGGTGGCTATGAGTCCTGAGACCCTGACACCTGAACCCTAGAGCCAGGGGCCACGCCGCACGTAGGACACAGCAGGGACTGGGGTCAGAGCTTTTCTGGGAAGGTCAGTCTGGTGCTGAGCCTTCACTGAGCACACTAAGCATGCCTGTGGGGAGGCAGTGAGAGGAGGCTGGCCTTTAGGGAGGGCTAGAGGGAGAGGAAGGAAGGGGTGGGGCCACCACTTCAGGAGGCCCCGAGCGAGATTTTTAGGAGAGGGAAAACCTGAGAATATTTGAAGGGAGGAAGGAGGAAGCCACTTGTTAGGGAAAGATCAAAGACACAAGAAAGAGTATGAGGTAATTCATGGAATCAGTTTCTGGAGAAGGAGAGGAGGGGGTTTGCTTTGGAAAGAAGGTCTGTTTTGTCTTCCAGGGCGGAAAGGCAAGAGGAAATGAATGAATACCATGCAACTATCAGCTGGATTAAAAGAGCTTTAGGGGTCATTGTGCTCATTTTTTCATTTCTTCCTTCACTTTATTCTTGATTCTCTGGGTTGCAGGTAATGGAAAACCCCACTCAAGCTACGAAAGGGAATTCAATGGCTTTACAGAAATGAAACACCCAGATGATTGGTTTCAGGTAAAGGCTGATCCAGCTCCTCAATGTGAGATCATTGAGAGTTTGTGTTCTCAAGGTTGGCTTCAGTTTAAAGCTGGCTCCATTCATCGTGCTGGGCTTGAAGCTGCTCTCTGAGACCACATAGACCACTAAGAAAAACTCAGAGGGGGATGAGGAATGGATGGCAAGGGGACACCATCCCCAGC
CAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGGAATCTGCATGTAGGCACATGATGGTTGGAGAAACCCTGTTGGATGTGACAGAGCTCTGTCGCTGGAGTCAGGATTATGGACTCTTCCTGTGACCTTGGCAAATCCCTCCTGCTCACATGAGGAAGGGGCTGCACTAGGTTAGCTCTGGCCTTCTGTGGCTGGGACTGTGCTTAGGGGAGCACTGTCATCTTCCCTGGCTGCTGTATATTAAGCCAAGCCTCCTTCTGAAAAGCCAAGGGGAGGGGAAAGGCAGGTCCAAAGTGGCATCACCACCACCCATGACATGCCTAAGCCCAGCCCCTGCCAGCTGCACCCTGCACTGCTAGGCTACTGGGCAGCAGATCTAGGCCTCCAGGGGCCTGGGGAAGGAGGCCCTGCTGCCTGGCTGGGAGAGGAAGGAAAGATTTCCAGTCACTTCCAGCCTGTGGTCCTTCCTCATCGCTGTGGGCAGAAGCAGAGTGGTACTGTGGGGGGCCTGGTCAGAGCTCCTCCCTGTCTCCTGTCCCCCCAGCAGCGGGCCACTCTCCTTTGAGTTCTTCTGGAAGTTGTCCTCTTTAAAATATGGACCCTGCTTCCCCTCTCCCAGGGCTGGTGTGGGGATGTCAGATCCTAGGTAAGGGGTCTAGGGATGAAGGGGGTGGCCTGGGCCTGAGGCTGCAGACTGGCTTTGCTCACAGGTCTTTGCTACAAGCTGAGCACATCCTGCCTCCTTCCACCCAAGTCACTCATTCATTTGGCCAGTACCAGATGATGAGGGCCGGGCCCTGGTGACCCTCACCTGGCTTTCAGGCCATGGGACAGAGGCTGCCTGCCCCAAGCCAGGGCCTAGTGGAGAGGGGCCCAAGGACAGGGCAGCTTCCTCCAGTTGGCCTAATCCCCTACCCTCTTGGAAATTCCCTTGGGAGGGGTATGAGGGGGCAGCCTGTCTGATTCCTCTCAGCTTCCCCCTCAGAGCCAGCCGGGAGCAGGGCCAGCGTGGGGAGGCAGGAGGCGTTTGGCGGGGAAGGAGGGCCGGCTCTGTTTCCAGAGTTGGCTTTCCCCAGCCGGCGCTGGGGAACATACTGTCCCAATTAGGAGCCCTGTATTGTGTTGTATGTGTTTTCATGGTTTTTGGGGGGAGAAGTGGGGAGGGGAGGATACTGTCAATCCTGCAGCAGGCAGGGCTCAATCAAGGGTGCCCTGTCTCTAGTGCTGGGCTGTGCCGTGGGTCATCCACGACAGCCCATCCCCAACTCTCTCTCTGCTTTCTGGACAGGGGTGTGATGACCCGTAAGCCCTGGGCTGCCATGTGGGGGAGGACCCTGGGCCCCACCTTCAGCACCTGTCTGATGGAAGAGGCCAGGTCCAGGGTGCTCAGAGTCCTCTGGGCAGTCAGCTGGAACCTGGAAATGGGCCTGGCTTGATGGGGGAGAAGACAGAGCAATTTGGGCAGCTTTGGCCCCCAGGTGGGAGGGTGCGGGTGGAGTTTCGGAGGGTATGGGTTTGCCTGATGGGCTGGAGCACTAGGCAGGGCGGAGTGTTGAGCCCCACATGGTATGGATGGCAAGTGGTGAGGGCGAGGCGTGGGCAGGTGGTTGAAGAGCCACGAGCGTCCTCTCCCAGCCTCTTGCCTGTTGGCAGCTTAGCCCCATCCTCTGAGCCCCAGGTCTGGGACAGCTGCTCTGGCTGTGCCTGCCCCAGTGGGATCACCATGGGTCCCTGTCTCCTCCCTCCCTCCAGAACTATGCTGCCGTGAAGCTGGTGAAGCCCTTCAGCTGAGGACTCTCCTGCCCTGTAGAAGGGGCCGTGGGGTCCCCTCCAGCATGGGACTGGCCTGCCTCCTCCGCCCAGCTCGGCGAGCTCCTCCAGACCTCCTAGGCCTGATTGTCCTGCCAGGGTGGGCAGACAGACAGATGGACCGGCCCACACTCCCAGAGTTGCTAACATGGAGCTCTGAGATCACCCCACTTCCATCATTTCCTTCTCCCCCAACCCAACGCTTTTTTGGATCAGCTCAGACATATTTCAGTATAAAACAGTTGGAACCACACAGCAGTGTCAGTGTGTGTATCTCTACAGTACCTGAACAGGGAGTGACTGTGAAGGGGGATATGCCTGGGTGGGCGGGGAGGGTGGACGGGGTATGGGTGCTGCTTCCAGCCCAGCCTTCTGGAGGGAGAGGCAGCTGAGAAGCAGTGGGTGGGGCCCGTGGAACTGCTTCTTCTTTCACAAGACTGGTTGGGGGTGGGGTGGGCTTGGGGCTTGGTGTCTGGTTTGCCTTAGCCCCGGCCTCCTCTGCCTCCTCTCCAATCCAGGACTTTCCCCTTTCCCCCTGCCTTCTCCTTACTCGGGCACCCCCCCCGTCTCCCAGGCTGCCCTTTGCCTAGGAGGGCAGCTACCTGTATCTTCTGGTTTCTTTGACCATGCTAGGGAAGAGGTTCCATTTTATAGAAAGGGAACTCCAGTGGGGAGGGTTCGGCCAGAAATCCCCTAGGCAGGGAGGCCACTGTACCTCTGGCTTTGGCCTATTCCCATAGAATCCTGGGATTTCTTGCGATTCTCTCTCTCTGCTTCCTCTCTCTGCTTTAAGAATCCGATCTGGACAAAGACACCTTTTTCTTGTGGTCTAAAGCTTAGTTGTAGCCATTGGTTTGACATTTCCTGCAGGAATCAGGCTTAATCTACAGAAGCAGCAGGAACATACTTGGAGAGAAAGCCAAGCGCTTGAAAACATCACGTTTCCAAGAGTCTCCTGCATCTCTCGCCTGAGGGGCTGAACTCTGTGAGCACAGAGCTGGCAGCCTCCACTCCCGTTACCCAGCGGGTGTCCCCGGTTTTCCACGGTGACCCTGCATCCTGGCCCAGTCCTCCTTGGCTCTTCACTGATTGGCAGGACTGGGGGTGGTTGGGACAGGGTTGATGTCTGGAACCTGCCTGGGTGAGGGAGCTACACCTTGAAAGCAGGGTGCTTCTTACTTCAGGAGAGCTTCAGGCTAGAGGTGGCTATGAGTCCTGAGACCCTGACACCTGAACCCTAGAGCCAGGGGCCACGCCGCACGTAGGACACAGCAGGGACTGGGGTCAGAGCTTTTCTGGGAAGGTCAGTCTGGTGCTGAGCCTTCACTGAGCACACTAAGCATGCCTGTGGGGAGGCAGTGAGAGGAGGCTGGCCTTTAGGGAGGGCTAGAGGGAGAGGAAGGAAGGGGTGGGGCCACCACTTCAGGAGGCCCCGAGCGAGATTTTTAGGAGAGGGAAAACCTGAGAATATTTGAAGGGAGGAAGGAGGAAGCCACTTGTTAGGGAAAGATCAAAGACACAAGAAAGAGTATGAGGTAATTCATGGAATCAGTTTCTGGAGAAGGAGAGGAGGGGGTTTGCTTTGGAAAGAAGGTCTGTTTTGTCTTCCAGGGCGGAAAGGCAAGAGGAAATGAATGAATACCATGCAACTATCAGCTGGATTAAAAGAGCTTTAGGGGTCATTGTGCTCATTTTTTCATTTCTTCCTTCACTTTATTCTTGATTCTCTGGGTTGCAGGTAATGGAAAACCCCACTCAAGCTACGAAAGGGAATTCAATGGCTTTACAGAAATGAAACACCCAGATGATTGGTTTCAGGTAAAGGCTGATCCAGCTCCTCAATGTGAGATCATTGAGAGTTTGTGTTCTCAAGGTTGGCTTCAGTTTAAAGCTGGCTCCATTCATCGTGCTGGGCTTGAAGCTGCTCTCTGAGACCACATAGACCACTAAGAAAAACTCAGAGGGGGATGAGGAATGGATGGCAAGGGGACACCATCCCCAGC
Task1_train_3723
With a mutation on Chromosome 2 in gene CYP26B1 (cytochrome P450 family 26 subfamily B member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Lethal occipital encephalocele-skeletal dysplasia syndrome
AAGACGGAGGCCCTTGCTCCCCGTCAGAAGAACCCGTATCCTTCCCCATACTCACGCCTGGAGTCAGGGCCAGTGCACTGGGGTGAACAGGGGCCAAACAGGAAATCGTGGCCGCCTCCAAATCTACCTGATCAGGGTTTTTGACAGGAGAGGGAGGAGGCAATGGGCCACATTCCATCTCCACCAGGGATAAGGCAGAGGCACCGGACTTCAGTCCAGGAGTGAGGCTCCGAGATTAAACCCAAATAATGCCCGGAGCCGGGGAAGGCTTTCAACCCTAGGCCCTGGGGGCTGGGTTTGACCAGAGACCCCTTCCTCTTCACTCACAGAAGTCTCGCCAGGACAGCTAGAACACAGGCTAGGGCATGAAGGGGAGGAGATGTTCACTCCAGACCCCAGCATCCCCAAGATTCTCTATCAGTGAATAAATATGGGGGCGGGCAGCACATGAGCCGCGGGCCTTAGGCGGCTGTGTGTAACAGGGCCTGGTTCAGCAGGGGATGGGAAGGTGGGGGTGTCAGTGCACCTGCCCAGGGCCACCAGGGAGGATGCTGGGGAGACAGGGCCTGGGGCTCCTTTGCCCCAAGGTCAGAGGACAGAACAAGTAGCAGCAATAGGTAATTTCAAATTGTCCAAACTGGTGAGGGAGGGTGGGAACCGTGGCATAGGGAAGGGCAATCTCCAGGTTGGACGCAGCCCCCGCCCCGCCAAGGTTGACTCCTGTTCTGCTACCCAGGATGCTGTTCCTGGGCAGACGCAGTGGGGGCGCAGGAGGAGGAGACGCTGAAGAGTGCGCCCAAGGGGGCACGGCTCTTCCCGTCCCCCAACCCCAGCTAAAAGGGTCCGAAAGGAACGGAGGGAAGGGAGCAGTTCAGAACATCACAAAAACACTGTAGCACGCGCTGACACCTAACACTGTCACGGGCATGCAGAGCCCCTGCCACGCCCTTCCCAGGGGCTGAGCTGATGGTAAATGGGGAGTGGCTGGAGGGAAGCTGGAGCCAGAAGGGGAGCCCAGCCCTAGGAATGGGGCCCACTGGCTTTGGGTAGGGTTTGCCAGGGAGGGGGAGCAAGGGAGGGCAAGTATGGGGGCCACTCGCCCTCCCCGTTCCGGCCCCCTCCCACACACAGGTTTCTACCTCCCACAACCACCACCCCGCTGCCTGGGCTGGGCTGAGGCGGGTGGGTCTTGGGTTAGACTGTGGCGCTCAGCATGGCCTCCGTCTCCGGCAGGATCTCGTTCTGGTTGGAGTCCAGGCCAAAGAACTTGACGCTGAGGCCATCCACGGGGTGCAGGACGGGGACCAAGGTGATGCGGGGGAAGGTCCGTGTGGCCAGCTCAAAGCGGCTGGTGCTAGCCAGCTCCACCGCCAGCACCTTCAGGAACAGCTTGGCCAGGTGCTTGCCCAGGCAGGTCCGGACACCGCCACCGAACGGGAGGTAATGGAAGCGGCCATCCTTGTCCTCGCTCCGCGCCTGGCTGAAGCGATCGGGGTCGAACACGTTCACGTCTTTGAACACGGGCGCTGTGTCATGGGTGTCCCGGATGCTATACATGACACTCCAGCCTTTGGGGATCTGGAAACCCTGGAGCAAGATGGGGGCCGAGGAGTGGGTGGTGAGAGCCAGAGGAGCCCACAGAGGGCCCAGGACTGCCCCCTCCCTGCTCAGCCCCAGATGTTCAAGACCTGCCTTTTCTTAGAGACACCCCACTGTGGCCCCCAAGGCCTGGCCAGCCTGCCCCATTCAGCATGTTAGTCCAAGCCCTTATCTGTAGATGTGCACATGTGACTTCACATATGACACCCAACTTGGCTTCACCTGATGCATTTGGGGCGCACTTCTCCCATCGGACTGAAAGCTCCCTGAAAGCAAGCACTGTTTCCCCATCAGGCCTGAAGTCCCTGAAATGGAGGCTGGTGCCCCGCCTTGCCCCTATCCCGGTGCCCCTGCTCCCCCATCGCCCCCGGTGCCACGGGCCCAGCCTCACATCAAGCTCGAAGGTCTGCAGCACAGTGCGGTAGCCGCCGGAAATGGGCGTGAACAGGCGCATGACCTCCTTGATGACGCAGTCCAGGTAGCGCAGCCCACTGAGCGTGTCCAGGCGCAGTGTGCCCTCGCAGGGGCAGCCGCCACTGTGCAGGATGCCATGAGCCCGCAGCTCATCCCGCAGCTTCTCCAGCACAGTGGGGTGCTTCAGCAGCTGCATGATGAGTGAGGTGCTGGCGCTGGCCGTGGTGGCATAGGCCGCAAAGATCAGCTCCAGGGTCCCGTCCTGCAGGGCACAGAGGAGAGGTGTTGTTGGAGGTGTGGGTTCAGCCAGGCAGGGGCCGCCCCATTCAGTCAGTGGCCCGTGTGCCCAGGTCATCTGTGCTGGGCCCTGCCTGGTTCCTGCAGTGAATTCTGCTTCCTCTGAGCTTCATGTTGCCGGGGCATTAGTGTCACGATGGACACGGGGGTCACAGCCAGTCCCTAGCTGGGCAGAAGACACAACTGCTGTGACCGAGGGCAGAAGCACTGGCCTAGAGTCCCTTGGAGTGGAGCCACTTCTCACTCACTGCTGGGTTCCTGGGCCAGCCCCACAGGCCTGATATGCAGTGGGCTCACAGGAGAAAAAGAACAAATCCCAAGGAGCCAGGCCCTGCGCAGCAGGTGTGCGTGTGTATGTGTGGGGGATGTGAGTCTAAACCCGGGCCTTCCCACTCCCAGTGCCAGCCCCTTCCTCCATCGCAGGAGGAGGACATTCAGTGGGTGATCAGGGGAGCCAATGGGGTCTGGGAGGGAGCCTGGGGCCACTCCCCTGGAGACCTGGGATGAGGCTGAGGGAAGGCGACCCCCAGAGGACCTAAAGACCCCGCCAGGGCTTTCTGGGGAGCAGGACACCAGGGCCATGGGTTCCCCACAGAAAGGCCCCAGCAGGCTATCTCATAGCACACCCTGCATTTTACAAATGTGGACTCTGGGCCCAGAGAGGGCAATGAAGGGACCTGGGTCCATTACTGGCCATGGCAACATCCATAAATCACAAAGCTTCTTGTAGTGGAAAAGCCACTCCAGCTCTTCCTAGCTCCCCAGGAAAGAAGTTGGAGCTAGAATATGGGGAGGCAAAGATAGTGGGCAGGGGAGGCTGCAGTGAGTGTCCATGGGCACCCAGCAGTGGAGCAGGCCTGCAGAGCCCAGGTGGGGATGGGCGAGTGAGCCCTCCTCGGGTGAAACATCCGCCTAAAGCAGGGCAAGCAGGTCCTGCGTGGAGCACAGCCGGGATCCCCAGGGGCCTAGGGGGCGGGGGGGAGGGTGGGAGGGCATGCAAGGCGCCAGCAACCTGAAAAGGCTGGGGGTGGGGGAGGATACCTCACATCCAAATCTCCCCTGCTCTTCCCCAAGGGCTGAGGCTGGTGACAAGCAAGTGGTTTCCCCTTGTGGGCCTGCCTTTCCCTAGATGGCCTTCCAGGGATATTGGGACTAGGAAATGAACTGAGATCATTCCCAGGCCTGAGCTCCCTGCAGGCCATGGGGAGAGAAGGGAGGGTGCCCCACGGCATCCTGCACAGCAGGGGTGGGGACACAGACTTCGCTTCCAGTTTCAAGGTCTCCAGCCACTGCTCAGAAAGCATGTGTGGGGCCAGACTACAGGGGGTAGAAATGGCTGGGCACATTTCCACCCAGGGAAAGCTCAGAATGGAGCCTGGGTGCTGGTGCTGCCCGTGAGGGGCACACGCCCACCCCACCTTCAGCTCCTGCATGGTCATCTCCTTCCCGTGCTCCTTGCTGCTCTCAATGAGGAGGTCCAGGGCGTCCAAGTAGTCCTTGCCCTGTGTGCACTGCAGCTTCTCCCGGATGGCCTTCTCCAGCCCCTTCTGCAGGATCTGCCGAGCCTGAATGCCCTGCAGAGGTGAGGGCTGTCACTCATATGGAAGGGCAGGCTCCCATCTGAGCCTCGGGACCACCAGGGACGACTCCAGCCTCCTCCTACCCCACGCTGACACCTCTCCCCTTTGTCCATGTGCCCTGTGCCTAGGTGCCCATCTCAGGGGTCAGGTCAGCCACCCACCCCCAGAGAGGGGGCTCATGGATGCCCCTGCTCCTCTCCTCCCAG
AAGACGGAGGCCCTTGCTCCCCGTCAGAAGAACCCGTATCCTTCCCCATACTCACGCCTGGAGTCAGGGCCAGTGCACTGGGGTGAACAGGGGCCAAACAGGAAATCGTGGCCGCCTCCAAATCTACCTGATCAGGGTTTTTGACAGGAGAGGGAGGAGGCAATGGGCCACATTCCATCTCCACCAGGGATAAGGCAGAGGCACCGGACTTCAGTCCAGGAGTGAGGCTCCGAGATTAAACCCAAATAATGCCCGGAGCCGGGGAAGGCTTTCAACCCTAGGCCCTGGGGGCTGGGTTTGACCAGAGACCCCTTCCTCTTCACTCACAGAAGTCTCGCCAGGACAGCTAGAACACAGGCTAGGGCATGAAGGGGAGGAGATGTTCACTCCAGACCCCAGCATCCCCAAGATTCTCTATCAGTGAATAAATATGGGGGCGGGCAGCACATGAGCCGCGGGCCTTAGGCGGCTGTGTGTAACAGGGCCTGGTTCAGCAGGGGATGGGAAGGTGGGGGTGTCAGTGCACCTGCCCAGGGCCACCAGGGAGGATGCTGGGGAGACAGGGCCTGGGGCTCCTTTGCCCCAAGGTCAGAGGACAGAACAAGTAGCAGCAATAGGTAATTTCAAATTGTCCAAACTGGTGAGGGAGGGTGGGAACCGTGGCATAGGGAAGGGCAATCTCCAGGTTGGACGCAGCCCCCGCCCCGCCAAGGTTGACTCCTGTTCTGCTACCCAGGATGCTGTTCCTGGGCAGACGCAGTGGGGGCGCAGGAGGAGGAGACGCTGAAGAGTGCGCCCAAGGGGGCACGGCTCTTCCCGTCCCCCAACCCCAGCTAAAAGGGTCCGAAAGGAACGGAGGGAAGGGAGCAGTTCAGAACATCACAAAAACACTGTAGCACGCGCTGACACCTAACACTGTCACGGGCATGCAGAGCCCCTGCCACGCCCTTCCCAGGGGCTGAGCTGATGGTAAATGGGGAGTGGCTGGAGGGAAGCTGGAGCCAGAAGGGGAGCCCAGCCCTAGGAATGGGGCCCACTGGCTTTGGGTAGGGTTTGCCAGGGAGGGGGAGCAAGGGAGGGCAAGTATGGGGGCCACTCGCCCTCCCCGTTCCGGCCCCCTCCCACACACAGGTTTCTACCTCCCACAACCACCACCCCGCTGCCTGGGCTGGGCTGAGGCGGGTGGGTCTTGGGTTAGACTGTGGCGCTCAGCATGGCCTCCGTCTCCGGCAGGATCTCGTTCTGGTTGGAGTCCAGGCCAAAGAACTTGACGCTGAGGCCATCCACGGGGTGCAGGACGGGGACCAAGGTGATGCGGGGGAAGGTCCGTGTGGCCAGCTCAAAGCGGCTGGTGCTAGCCAGCTCCACCGCCAGCACCTTCAGGAACAGCTTGGCCAGGTGCTTGCCCAGGCAGGTCCGGACACCGCCACCGAACGGGAGGTAATGGAAGCGGCCATCCTTGTCCTCGCTCCGCGCCTGGCTGAAGCGATCGGGGTCGAACACGTTCACGTCTTTGAACACGGGCGCTGTGTCATGGGTGTCCCGGATGCTATACATGACACTCCAGCCTTTGGGGATCTGGAAACCCTGGAGCAAGATGGGGGCCGAGGAGTGGGTGGTGAGAGCCAGAGGAGCCCACAGAGGGCCCAGGACTGCCCCCTCCCTGCTCAGCCCCAGATGTTCAAGACCTGCCTTTTCTTAGAGACACCCCACTGTGGCCCCCAAGGCCTGGCCAGCCTGCCCCATTCAGCATGTTAGTCCAAGCCCTTATCTGTAGATGTGCACATGTGACTTCACATATGACACCCAACTTGGCTTCACCTGATGCATTTGGGGCGCACTTCTCCCATCGGACTGAAAGCTCCCTGAAAGCAAGCACTGTTTCCCCATCAGGCCTGAAGTCCCTGAAATGGAGGCTGGTGCCCCGCCTTGCCCCTATCCCGGTGCCCCTGCTCCCCCATCGCCCCCGGTGCCACGGGCCCAGCCTCACATCAAGCTCGAAGGTCTGCAGCACAGTGCGGTAGCCGCCGGAAATGGGCGTGAACAGGAGCATGACCTCCTTGATGACGCAGTCCAGGTAGCGCAGCCCACTGAGCGTGTCCAGGCGCAGTGTGCCCTCGCAGGGGCAGCCGCCACTGTGCAGGATGCCATGAGCCCGCAGCTCATCCCGCAGCTTCTCCAGCACAGTGGGGTGCTTCAGCAGCTGCATGATGAGTGAGGTGCTGGCGCTGGCCGTGGTGGCATAGGCCGCAAAGATCAGCTCCAGGGTCCCGTCCTGCAGGGCACAGAGGAGAGGTGTTGTTGGAGGTGTGGGTTCAGCCAGGCAGGGGCCGCCCCATTCAGTCAGTGGCCCGTGTGCCCAGGTCATCTGTGCTGGGCCCTGCCTGGTTCCTGCAGTGAATTCTGCTTCCTCTGAGCTTCATGTTGCCGGGGCATTAGTGTCACGATGGACACGGGGGTCACAGCCAGTCCCTAGCTGGGCAGAAGACACAACTGCTGTGACCGAGGGCAGAAGCACTGGCCTAGAGTCCCTTGGAGTGGAGCCACTTCTCACTCACTGCTGGGTTCCTGGGCCAGCCCCACAGGCCTGATATGCAGTGGGCTCACAGGAGAAAAAGAACAAATCCCAAGGAGCCAGGCCCTGCGCAGCAGGTGTGCGTGTGTATGTGTGGGGGATGTGAGTCTAAACCCGGGCCTTCCCACTCCCAGTGCCAGCCCCTTCCTCCATCGCAGGAGGAGGACATTCAGTGGGTGATCAGGGGAGCCAATGGGGTCTGGGAGGGAGCCTGGGGCCACTCCCCTGGAGACCTGGGATGAGGCTGAGGGAAGGCGACCCCCAGAGGACCTAAAGACCCCGCCAGGGCTTTCTGGGGAGCAGGACACCAGGGCCATGGGTTCCCCACAGAAAGGCCCCAGCAGGCTATCTCATAGCACACCCTGCATTTTACAAATGTGGACTCTGGGCCCAGAGAGGGCAATGAAGGGACCTGGGTCCATTACTGGCCATGGCAACATCCATAAATCACAAAGCTTCTTGTAGTGGAAAAGCCACTCCAGCTCTTCCTAGCTCCCCAGGAAAGAAGTTGGAGCTAGAATATGGGGAGGCAAAGATAGTGGGCAGGGGAGGCTGCAGTGAGTGTCCATGGGCACCCAGCAGTGGAGCAGGCCTGCAGAGCCCAGGTGGGGATGGGCGAGTGAGCCCTCCTCGGGTGAAACATCCGCCTAAAGCAGGGCAAGCAGGTCCTGCGTGGAGCACAGCCGGGATCCCCAGGGGCCTAGGGGGCGGGGGGGAGGGTGGGAGGGCATGCAAGGCGCCAGCAACCTGAAAAGGCTGGGGGTGGGGGAGGATACCTCACATCCAAATCTCCCCTGCTCTTCCCCAAGGGCTGAGGCTGGTGACAAGCAAGTGGTTTCCCCTTGTGGGCCTGCCTTTCCCTAGATGGCCTTCCAGGGATATTGGGACTAGGAAATGAACTGAGATCATTCCCAGGCCTGAGCTCCCTGCAGGCCATGGGGAGAGAAGGGAGGGTGCCCCACGGCATCCTGCACAGCAGGGGTGGGGACACAGACTTCGCTTCCAGTTTCAAGGTCTCCAGCCACTGCTCAGAAAGCATGTGTGGGGCCAGACTACAGGGGGTAGAAATGGCTGGGCACATTTCCACCCAGGGAAAGCTCAGAATGGAGCCTGGGTGCTGGTGCTGCCCGTGAGGGGCACACGCCCACCCCACCTTCAGCTCCTGCATGGTCATCTCCTTCCCGTGCTCCTTGCTGCTCTCAATGAGGAGGTCCAGGGCGTCCAAGTAGTCCTTGCCCTGTGTGCACTGCAGCTTCTCCCGGATGGCCTTCTCCAGCCCCTTCTGCAGGATCTGCCGAGCCTGAATGCCCTGCAGAGGTGAGGGCTGTCACTCATATGGAAGGGCAGGCTCCCATCTGAGCCTCGGGACCACCAGGGACGACTCCAGCCTCCTCCTACCCCACGCTGACACCTCTCCCCTTTGTCCATGTGCCCTGTGCCTAGGTGCCCATCTCAGGGGTCAGGTCAGCCACCCACCCCCAGAGAGGGGGCTCATGGATGCCCCTGCTCCTCTCCTCCCAG
Task1_train_3724
With a mutation on Chromosome 2 in gene CYP26B1 (cytochrome P450 family 26 subfamily B member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Lethal occipital encephalocele-skeletal dysplasia syndrome
GCCCCATTCAGTCAGTGGCCCGTGTGCCCAGGTCATCTGTGCTGGGCCCTGCCTGGTTCCTGCAGTGAATTCTGCTTCCTCTGAGCTTCATGTTGCCGGGGCATTAGTGTCACGATGGACACGGGGGTCACAGCCAGTCCCTAGCTGGGCAGAAGACACAACTGCTGTGACCGAGGGCAGAAGCACTGGCCTAGAGTCCCTTGGAGTGGAGCCACTTCTCACTCACTGCTGGGTTCCTGGGCCAGCCCCACAGGCCTGATATGCAGTGGGCTCACAGGAGAAAAAGAACAAATCCCAAGGAGCCAGGCCCTGCGCAGCAGGTGTGCGTGTGTATGTGTGGGGGATGTGAGTCTAAACCCGGGCCTTCCCACTCCCAGTGCCAGCCCCTTCCTCCATCGCAGGAGGAGGACATTCAGTGGGTGATCAGGGGAGCCAATGGGGTCTGGGAGGGAGCCTGGGGCCACTCCCCTGGAGACCTGGGATGAGGCTGAGGGAAGGCGACCCCCAGAGGACCTAAAGACCCCGCCAGGGCTTTCTGGGGAGCAGGACACCAGGGCCATGGGTTCCCCACAGAAAGGCCCCAGCAGGCTATCTCATAGCACACCCTGCATTTTACAAATGTGGACTCTGGGCCCAGAGAGGGCAATGAAGGGACCTGGGTCCATTACTGGCCATGGCAACATCCATAAATCACAAAGCTTCTTGTAGTGGAAAAGCCACTCCAGCTCTTCCTAGCTCCCCAGGAAAGAAGTTGGAGCTAGAATATGGGGAGGCAAAGATAGTGGGCAGGGGAGGCTGCAGTGAGTGTCCATGGGCACCCAGCAGTGGAGCAGGCCTGCAGAGCCCAGGTGGGGATGGGCGAGTGAGCCCTCCTCGGGTGAAACATCCGCCTAAAGCAGGGCAAGCAGGTCCTGCGTGGAGCACAGCCGGGATCCCCAGGGGCCTAGGGGGCGGGGGGGAGGGTGGGAGGGCATGCAAGGCGCCAGCAACCTGAAAAGGCTGGGGGTGGGGGAGGATACCTCACATCCAAATCTCCCCTGCTCTTCCCCAAGGGCTGAGGCTGGTGACAAGCAAGTGGTTTCCCCTTGTGGGCCTGCCTTTCCCTAGATGGCCTTCCAGGGATATTGGGACTAGGAAATGAACTGAGATCATTCCCAGGCCTGAGCTCCCTGCAGGCCATGGGGAGAGAAGGGAGGGTGCCCCACGGCATCCTGCACAGCAGGGGTGGGGACACAGACTTCGCTTCCAGTTTCAAGGTCTCCAGCCACTGCTCAGAAAGCATGTGTGGGGCCAGACTACAGGGGGTAGAAATGGCTGGGCACATTTCCACCCAGGGAAAGCTCAGAATGGAGCCTGGGTGCTGGTGCTGCCCGTGAGGGGCACACGCCCACCCCACCTTCAGCTCCTGCATGGTCATCTCCTTCCCGTGCTCCTTGCTGCTCTCAATGAGGAGGTCCAGGGCGTCCAAGTAGTCCTTGCCCTGTGTGCACTGCAGCTTCTCCCGGATGGCCTTCTCCAGCCCCTTCTGCAGGATCTGCCGAGCCTGAATGCCCTGCAGAGGTGAGGGCTGTCACTCATATGGAAGGGCAGGCTCCCATCTGAGCCTCGGGACCACCAGGGACGACTCCAGCCTCCTCCTACCCCACGCTGACACCTCTCCCCTTTGTCCATGTGCCCTGTGCCTAGGTGCCCATCTCAGGGGTCAGGTCAGCCACCCACCCCCAGAGAGGGGGCTCATGGATGCCCCTGCTCCTCTCCTCCCAGGCCCTGGGTGCTCACCCGCCGGTAGCCACTGAAGGGCAGGTCGACAGGCAGGGAGAAGACATTGTCCACAAACTGCTGGTAGACCTCAAAGAGGTGCCCAAGGTCCTCCTCAGGGATGCTGAAGCCCAGCAGCACCCGGATGGCCATGCGGAAGGTCAGCTTCTGCGCCTCCTGGTACACGTTGATGGCCTCGGGGTGGCTGCTCCAGGCGCGCAGTGTGTCCTGGATCACCAGCTGGATCTTGGGCAGGTAACTCTCCAGGGCCTCGTGGCTGAAGATCTTGGAGAAGACCTGGAAGGCAGAGAGGCAAGTGGGTGAGCCGATTGGCACAGCCCACCCCTGGCCAGCCCCTCACTCTGCCTGAACAATGAATGTGACTGGAGAGAACTTCAGCTTCCACACAACAGCAAAGCCTTGGGAGCTGGGCAGGCCAGCTGCCAGCAAGTCTTTGGGGGATGTGGCTTGTGAGGGGCATAAGTGGGGGCTGGGCAGGGCCAGAGCAGGGCGGCTGCCCTTCCATTGCAGAAGCCCATTTCGGAATCCCGGGACACAGGACGGAAGTGCCCTGGAGAAGTGGAGCACAGTCGTTGGACTGTACAGGGAAGTAGGGGAAGGCCATCGAGGGAAAGCTACTCCATGGGGTACAGCAAGAGAGCCTGAGACTAGACCTCAAGCAGGACTTCCTGGGAACCAAAATTGTCATTACTTGCTGGAAAACACCTACTGGGTGCAGATTCTAGTAAGTTTATTAACAGCTGTGCCATGAAAAGGTCTTCAGTGTGGCCAGGTCCAAAAGCAGGGGGAGATGGGGGCAATGGCTTTCCACCCCTAAAGATCATAAAGACAAACAGAAGCCCTGTGACTTCCCTGCATCTTCCAGGGCCACTGTACGCAGCCAGTGAGTCCTGTTTCCACCTCCTTGTCCTCCGTCCTCCCGGCTGGCTGCGCAGCCCCCCTTGCCACCCTCCTCACCCAGGACTCCCCCGCACAGGTTTTCATGTGTGGAGGAGAGGGGAGCACGTTAGTTTATTTACCAAAAGCCTGTGGGTCTCGCTCATAAGCAGCAACGTCCATCCCACCAGAGTTCAGATGAGAAGGGGGAGCACCCCTGCTACCAGCACCAAGCAAAGGCTGGGAGGGGAGGGACAGTGCAGAAGAGGGAGCCCCCCACTCCACCCCATGCAAACCACACACACGCGCCGCCCTCCCCTACTGCCCCCCCAAACACAACCACCGCATAAACTGTAAATGTGAGAATTTCCCCTGCAGTCAGCTCGGGGAGGAAAGGTAACATTTTCCTGGCCTAGGCCCTGCATGGCTAATGGGAGGGCTGGTTTGCAGAAATAACAGTGCTGGCCCTTCAGTGGCCCAGCCAGGCATTCACAATAGCACTTTCATTCCGAAATTCCCGGTGGAGGGAAGGAGGGAGGGCAGGAGGCCGGCGAGGGGCAGAGAGGCCTGTACTGTTTGGGGCCGCTCCTGCTACAAAGGGACAGCTGAGAGGTAGAAGGACGATAGGAGGTCGCCTGGGTCAGCCCAAGCCCAGATGGGTCATTCACACCTTGCCCAGTTTTGGGGGTCCGAGGGAATTTCCAGGGGACTCTAACTACTGCCTCCCTTCAGAGAGTGATGGATAAAGGCAATGCTTGTTTGCTTCAACCCCCAACCCTCATGTCCTTAGGATTCCAGGTTCAGCCCTTGGGCAAATGAAGGGTCTTGGGGGAATGAGAGGGGGCACTTCTTCTAGAGACCAGCGCTGGCCAATGAAGGGCCCCTTACAGATAGCAGAGAGCCACTGGGTGGGCAGAGAGTAGCACACAGGAGGGAAAAGTGCATCAGGAAACAAGACAGGGGCAGGAAAATCACTCTGCGGCTACCAGGCCTCCATGGCGGGACAGGGATGCCAGAGGTGGGACAGGGAGGGCCAGAAAGGTCATACCTGGCCCAGAAACAGCCAGCCCAGGACCTACTAGGGGTTCTGTCACGAAGAGTGCAGGGTAGGGGCTGGCCAGGGCCCCCAGCACATGGCAGACCTGGTCCTCCTGCCTCTCACCCGGTGCCCTGGAGGCCACGCCCACCAGGCCCAGCCAAAGTCGAAGCTGGTGGGCTCTATGATGCAGTGGGGTGACAGGAAAGGGGCTGAGTTGTAACTGTGCATCATCCAGCAACTTACAGTGTGATCATGGCCAAGTGGCTATCTGCTCCCCCAAGCCTCAGTTTCCTCATCTGTAAAACAGTGAGGTGGAACCAGATGGCCTCCCTTCAATCCACTGAGCACCTAAACACCAGCACCCACCTGCCCCTAAGCAGATGCTATCCCTTCAAAGCTGCC
GCCCCATTCAGTCAGTGGCCCGTGTGCCCAGGTCATCTGTGCTGGGCCCTGCCTGGTTCCTGCAGTGAATTCTGCTTCCTCTGAGCTTCATGTTGCCGGGGCATTAGTGTCACGATGGACACGGGGGTCACAGCCAGTCCCTAGCTGGGCAGAAGACACAACTGCTGTGACCGAGGGCAGAAGCACTGGCCTAGAGTCCCTTGGAGTGGAGCCACTTCTCACTCACTGCTGGGTTCCTGGGCCAGCCCCACAGGCCTGATATGCAGTGGGCTCACAGGAGAAAAAGAACAAATCCCAAGGAGCCAGGCCCTGCGCAGCAGGTGTGCGTGTGTATGTGTGGGGGATGTGAGTCTAAACCCGGGCCTTCCCACTCCCAGTGCCAGCCCCTTCCTCCATCGCAGGAGGAGGACATTCAGTGGGTGATCAGGGGAGCCAATGGGGTCTGGGAGGGAGCCTGGGGCCACTCCCCTGGAGACCTGGGATGAGGCTGAGGGAAGGCGACCCCCAGAGGACCTAAAGACCCCGCCAGGGCTTTCTGGGGAGCAGGACACCAGGGCCATGGGTTCCCCACAGAAAGGCCCCAGCAGGCTATCTCATAGCACACCCTGCATTTTACAAATGTGGACTCTGGGCCCAGAGAGGGCAATGAAGGGACCTGGGTCCATTACTGGCCATGGCAACATCCATAAATCACAAAGCTTCTTGTAGTGGAAAAGCCACTCCAGCTCTTCCTAGCTCCCCAGGAAAGAAGTTGGAGCTAGAATATGGGGAGGCAAAGATAGTGGGCAGGGGAGGCTGCAGTGAGTGTCCATGGGCACCCAGCAGTGGAGCAGGCCTGCAGAGCCCAGGTGGGGATGGGCGAGTGAGCCCTCCTCGGGTGAAACATCCGCCTAAAGCAGGGCAAGCAGGTCCTGCGTGGAGCACAGCCGGGATCCCCAGGGGCCTAGGGGGCGGGGGGGAGGGTGGGAGGGCATGCAAGGCGCCAGCAACCTGAAAAGGCTGGGGGTGGGGGAGGATACCTCACATCCAAATCTCCCCTGCTCTTCCCCAAGGGCTGAGGCTGGTGACAAGCAAGTGGTTTCCCCTTGTGGGCCTGCCTTTCCCTAGATGGCCTTCCAGGGATATTGGGACTAGGAAATGAACTGAGATCATTCCCAGGCCTGAGCTCCCTGCAGGCCATGGGGAGAGAAGGGAGGGTGCCCCACGGCATCCTGCACAGCAGGGGTGGGGACACAGACTTCGCTTCCAGTTTCAAGGTCTCCAGCCACTGCTCAGAAAGCATGTGTGGGGCCAGACTACAGGGGGTAGAAATGGCTGGGCACATTTCCACCCAGGGAAAGCTCAGAATGGAGCCTGGGTGCTGGTGCTGCCCGTGAGGGGCACACGCCCACCCCACCTTCAGCTCCTGCATGGTCATCTCCTTCCCGTGCTCCTTGCTGCTCTCAATGAGGAGGTCCAGGGCGTCCAAGTAGTCCTTGCCCTGTGTGCACTGCAGCTTCTCCCGGATGGCCTTCTCCAGCCCCTTCTGCAGGATCTGCCGAGCCTGAATGCCCTGCAGAGGTGAGGGCTGTCACTCATATGGAAGGGCAGGCTCCCATCTGAGCCTCGGGACCACCAGGGACGACTCCAGCCTCCTCCTACCCCACGCTGACACCTCTCCCCTTTGTCCATGTGCCCTGTGCCTAGGTGCCCATCTCAGGGGTCAGGTCAGCCACCCACCCCCAGAGAGGGGGCTCATGGATGCCCCTGCTCCTCTCCTCCCAGGCCCTGGGTGCTCACCCGCCGGTAGCCACTGAAGGGCAGGTCGACAGGCAGGGAGAAGACATTGTCCACAAACTGCTGGTAGACCTCAAAGAGGTGCCCAAGGTCCTCCTCAGGGATGCTGAAGCCCAGCAGCACCCGGATGGCCATGCGGAAGGTCAGCTTCTGCGCCTCCTGGTACACGTTGATGGCCTCGGGGTGGCTGCTCCAGGCGCGCAGTGTGTCCTGGATCACCAGCTGGATCTTGGGCAGGTAACTCTCCAGGGCCTCGTGGCTGAAGATCTTGGGGAAGACCTGGAAGGCAGAGAGGCAAGTGGGTGAGCCGATTGGCACAGCCCACCCCTGGCCAGCCCCTCACTCTGCCTGAACAATGAATGTGACTGGAGAGAACTTCAGCTTCCACACAACAGCAAAGCCTTGGGAGCTGGGCAGGCCAGCTGCCAGCAAGTCTTTGGGGGATGTGGCTTGTGAGGGGCATAAGTGGGGGCTGGGCAGGGCCAGAGCAGGGCGGCTGCCCTTCCATTGCAGAAGCCCATTTCGGAATCCCGGGACACAGGACGGAAGTGCCCTGGAGAAGTGGAGCACAGTCGTTGGACTGTACAGGGAAGTAGGGGAAGGCCATCGAGGGAAAGCTACTCCATGGGGTACAGCAAGAGAGCCTGAGACTAGACCTCAAGCAGGACTTCCTGGGAACCAAAATTGTCATTACTTGCTGGAAAACACCTACTGGGTGCAGATTCTAGTAAGTTTATTAACAGCTGTGCCATGAAAAGGTCTTCAGTGTGGCCAGGTCCAAAAGCAGGGGGAGATGGGGGCAATGGCTTTCCACCCCTAAAGATCATAAAGACAAACAGAAGCCCTGTGACTTCCCTGCATCTTCCAGGGCCACTGTACGCAGCCAGTGAGTCCTGTTTCCACCTCCTTGTCCTCCGTCCTCCCGGCTGGCTGCGCAGCCCCCCTTGCCACCCTCCTCACCCAGGACTCCCCCGCACAGGTTTTCATGTGTGGAGGAGAGGGGAGCACGTTAGTTTATTTACCAAAAGCCTGTGGGTCTCGCTCATAAGCAGCAACGTCCATCCCACCAGAGTTCAGATGAGAAGGGGGAGCACCCCTGCTACCAGCACCAAGCAAAGGCTGGGAGGGGAGGGACAGTGCAGAAGAGGGAGCCCCCCACTCCACCCCATGCAAACCACACACACGCGCCGCCCTCCCCTACTGCCCCCCCAAACACAACCACCGCATAAACTGTAAATGTGAGAATTTCCCCTGCAGTCAGCTCGGGGAGGAAAGGTAACATTTTCCTGGCCTAGGCCCTGCATGGCTAATGGGAGGGCTGGTTTGCAGAAATAACAGTGCTGGCCCTTCAGTGGCCCAGCCAGGCATTCACAATAGCACTTTCATTCCGAAATTCCCGGTGGAGGGAAGGAGGGAGGGCAGGAGGCCGGCGAGGGGCAGAGAGGCCTGTACTGTTTGGGGCCGCTCCTGCTACAAAGGGACAGCTGAGAGGTAGAAGGACGATAGGAGGTCGCCTGGGTCAGCCCAAGCCCAGATGGGTCATTCACACCTTGCCCAGTTTTGGGGGTCCGAGGGAATTTCCAGGGGACTCTAACTACTGCCTCCCTTCAGAGAGTGATGGATAAAGGCAATGCTTGTTTGCTTCAACCCCCAACCCTCATGTCCTTAGGATTCCAGGTTCAGCCCTTGGGCAAATGAAGGGTCTTGGGGGAATGAGAGGGGGCACTTCTTCTAGAGACCAGCGCTGGCCAATGAAGGGCCCCTTACAGATAGCAGAGAGCCACTGGGTGGGCAGAGAGTAGCACACAGGAGGGAAAAGTGCATCAGGAAACAAGACAGGGGCAGGAAAATCACTCTGCGGCTACCAGGCCTCCATGGCGGGACAGGGATGCCAGAGGTGGGACAGGGAGGGCCAGAAAGGTCATACCTGGCCCAGAAACAGCCAGCCCAGGACCTACTAGGGGTTCTGTCACGAAGAGTGCAGGGTAGGGGCTGGCCAGGGCCCCCAGCACATGGCAGACCTGGTCCTCCTGCCTCTCACCCGGTGCCCTGGAGGCCACGCCCACCAGGCCCAGCCAAAGTCGAAGCTGGTGGGCTCTATGATGCAGTGGGGTGACAGGAAAGGGGCTGAGTTGTAACTGTGCATCATCCAGCAACTTACAGTGTGATCATGGCCAAGTGGCTATCTGCTCCCCCAAGCCTCAGTTTCCTCATCTGTAAAACAGTGAGGTGGAACCAGATGGCCTCCCTTCAATCCACTGAGCACCTAAACACCAGCACCCACCTGCCCCTAAGCAGATGCTATCCCTTCAAAGCTGCC
Task1_train_3725
Given this variant in gene SPR (sepiapterin reductase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Dopa-responsive dystonia due to sepiapterin reductase deficiency
ACACTGGGCAACACAGCAAGAGCCATCTCTATAAAAAAACACAAAAATTAGCGAGAGCAGATAATCATCTTCCTCAGAAAAGAAGAATTTTCCAGACCCTCTCCTAGTATAGGAAAACCACGTTCTCCTTAGGGGCTGTTCCCAAGTGGTTCCTCCTAGAAGCAGCTAGGTTCAGAAGAGTCTAGGTCTGATTTTTTGCCATCCCTTCATTGTTCCCTCCTTTTCTTCAAAAATCTGGCAAATGGTAGAAATTTAACAAATGTCAAATGAATGGATGGATGGGATCGTGCTTTCATCAACCTGTCTTCTAAGGCCTGGAGAGCAGGGAGAAGCTATTAAAATTCTTTAAATAGTAAGCTGTTGGGCCAATGAGATCTTTATCTTCAGTGTGAATAGGTAAGTGAAAAGCAGGGCAACTTCAAATGGTATACACATATACAGAGTCTTATCAGCGTTAAAATACCAAAAGCTTAAAAAACAATTAGCCAGGCGTGGTGGTGCGCACCTGTAATCCTAGCTACTCAGGAGCCTGAGGTGGAAGGATTGCTTGAGCCCAAGAATTCAAGGCTGCAGTAAACTGTGATCACACCTCTGCACTTCAGTTTGGGCCACAGAGCGAGACTCTGTCAAAAAAAAGAAAAAAGAAAAGAAAAAAGCCTTCCTCCAAGTTGTTTCTTCCTTAGAGTTGGCAATAATAGTGGAAAGGCGGTAACTTTGCTGTTTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCC
ACACTGGGCAACACAGCAAGAGCCATCTCTATAAAAAAACACAAAAATTAGCGAGAGCAGATAATCATCTTCCTCAGAAAAGAAGAATTTTCCAGACCCTCTCCTAGTATAGGAAAACCACGTTCTCCTTAGGGGCTGTTCCCAAGTGGTTCCTCCTAGAAGCAGCTAGGTTCAGAAGAGTCTAGGTCTGATTTTTTGCCATCCCTTCATTGTTCCCTCCTTTTCTTCAAAAATCTGGCAAATGGTAGAAATTTAACAAATGTCAAATGAATGGATGGATGGGATCGTGCTTTCATCAACCTGTCTTCTAAGGCCTGGAGAGCAGGGAGAAGCTATTAAAATTCTTTAAATAGTAAGCTGTTGGGCCAATGAGATCTTTATCTTCAGTGTGAATAGGTAAGTGAAAAGCAGGGCAACTTCAAATGGTATACACATATACAGAGTCTTATCAGCGTTAAAATACCAAAAGCTTAAAAAACAATTAGCCAGGCGTGGTGGTGCGCACCTGTAATCCTAGCTACTCAGGAGCCTGAGGTGGAAGGATTGCTTGAGCCCAAGAATTCAAGGCTGCAGTAAACTGTGATCACACCTCTGCACTTCAGTTTGGGCCACAGAGCGAGACTCTGTCAAAAAAAAGAAAAAAGAAAAGAAAAAAGCCTTCCTCCAAGTTGTTTCTTCCTTAGAGTTGGCAATAATAGTGGAAAGGCGGTAACTTTGCTGTTTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGTGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCC
Task1_train_3726
A sequence alteration has been identified in SPR (sepiapterin reductase) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Dystonic disorder
TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGG
TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACGGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGG
Task1_train_3727
This gene mutation involves SPR (sepiapterin reductase) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Dopa-responsive dystonia due to sepiapterin reductase deficiency
TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGG
TTAGCCCCAGGGGAGGGATCAGCCCTGTGGGGAATTGGGCTAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACGGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGG
Task1_train_3728
Here is a genetic alteration in SPR (sepiapterin reductase) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Dopa-responsive dystonia due to sepiapterin reductase deficiency
TAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCAT
TAAGTTATCAGAGGTTACTTACTGCCCTTGCTAAACTCTAAAGAGATTCGTTTTTTAAAAACTGACACACAATATTTGGACATATGTATATACACAATGGAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACTTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCAT
Task1_train_3729
A mutation found in SPR (sepiapterin reductase) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Inborn genetic diseases
GAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTATGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCTAG
GAATACCACTCGGCCACTAAGAAGGAAACCATGAAGAGATTCCTTTTTAATATATGTAGCTGCATGCCAACTTGTCTCACGTTCCTCCTCTCCTAGAAAAAAAAAAATGTGGATTTTTCTGAAGCACCTGCCTGGAGGTACAGACAGATGATTGCGCAAACTTGAAGCTGAAAGTGGATGGAATTGCTGCCAGGGAGACTGTAGCATGAGCAGGAGCAGAATCCTGGGGAACACACTTTTAGGGACAGGAGTCAGAAATCTCAGAGAAGCAGGGGTTACTGGTGGGATCACGGAGCTGCTCAGGGCCTAGTAAAAGGGAAAGGTTTTAATATCATTTGGAGCCACTGTGGTTCTCCCAGAGGAAGCTCCTGTCATCCAGAGAGCGGTGAGCTCCCAAACAAGCAGAGACTTCAATTCCTAAACAGGCATAAGCTTCATTCAGGGTGTTCACTGGCCACGACCAGGGACGCCCAGCACCCAGTGCAGGGCCTGCCCTGGAAGAGGTCAGTAGTGCAAAGTTAGGGCTGGAACTGGGAGGAAATTCGAGCATGCGTCCCAGCCGGAGGCTGAGCTTGCGGGCGAAGAACACGGCAGCGCTGGGAACCGGGCTAGGGCTTTCCGTGTGGGCCGCGCCTGCCGGCCCTCTCTGTTGTCCCACTTGGCACGGACTGGGCTACCGCCACGGTTTGACTTCCGCCACCAGCAACCAAGGGAACCAGATCCCAAGGGAACCAGCACCCCTGGGCGCTCGCGGCCCGAAGCCTGAGGTTCCCGCCCCGCCCCGGCAGGGCGGCCCCGCCGACACCCGTAGCGGTCCCGCCCCCCGCGGCCGCACCGCCTCCTGCCTGGTCTCGGGTGCCAGCGCCGCCGGCGGAGAACAGGAGCATGGAGGGCGGGCTGGGGCGTGCTGTGTGCTTGCTGACCGGGGCCTCCCGCGGCTTCGGCCGGACGCTGGCCCCGCTCCTGGCCTCGCTGCTGTCGCCCGGCTCCGTGCTTGTCCTTAGCGCCCGCAACGACGAGGCACTGCGCCAGCTGGAGGCCGAGCTGGGCGCCGAGCGGTCTGGCCTGCGCGTGGTGCGGGTGCCCGCCGACCTGGGCGCCGAGGCCGGCTTGCAGCAGCTGCTCGGCGCCCTGCGCGAGCTCCCCCGGCCCAAGGGGCTGCAGCGACTGCTGCTTATCAACAACGCGGGTAAGACCCCGGGGCTGGAGCGGACTCCCCATGTGAGCGCCCACTTCCTCCACCGCTGGGGAATTTAAGGGCTACTCCTAGGGGTCAGATAGGACGCCTAGAAATCTAAAGCCCTAGTTGTTCCAGCTTGAGTAGCAAGTGGAGGCGAGGTGTACAGGAAGACTCGGTGCCGTCGGGACAACAGTCTGCCCCCACTTCCTGGAAAATTGGCCAGCCGGGTTTTCCAAAGCGCCTGTAGAACTTTCCCGAGCCCCTTGCTCTGCGCCCTCTGGCGGAGGCCTGAGTCAGGGCTTGGAGTCTCCAAACAAGTAAACTCTCTGCTTCTCCAAAGGACCGCTAGAGCTTTCCTTCAGCCCCACGGCAAGGCAGGTGCCTTCTCATTCTGCAGCTTGGGATGGCTAGGTTCCCCAGCTGTGTCTTTCCGCAGAGCTGGGGAAGAGAGAAGCCTCTTCAGAAGCGCTAGGCAGCTTCCTCCTCTAGGTCTGCATGGGAAGAGGATATCTGGAGGAACTTGGGAGGGCTGGGGAAGAAGAAAGCCCCGCCTGCACTGAGTTACTCCTAAGGGTTGGTTTTTCAGGCTCTCTTGGGGATGTGTCCAAAGGCTTCGTGGACCTGAGTGACTCCACTCAAGTGAACAACTACTGGGCACTGAACTTGACCTCCATGCTCTGCCTGACTTCCAGCGTCCTGAAGGCCTTCCCGGACAGTCCTGGCCTCAACAGAACCGTGGTTAACATCTCGTCCCTCTGTGCCCTGCAACCTTTCAAAGGCTGGGCGCTGTACTGTGCAGGAAAGGCTGCTCGTGATATGCTGTTCCAGGTCCTGGCGCTGGAGGAACCTAATGTGAGGGTGCTGAACTGTGCCCCAGGTAGGTGGGAAGTCCTGCCGTCCCTGTCCTCCAGAACCCACTGGTGCGCCTCTGGGGGCTGGGCAAGCGGCCTAGTCCGCCCCCTCCAGGAAACAACCCACAGGATTTTGTCCTTGAATCTTGACCCATCACCCCTTAGGGGAAATACAGACCCAGGGGAAATAGAGGTGGCAGGGGCCGGGGATACTGGTAGAGAGTGAGGAGTTTCCTGGACTGGAGGGTGGGGCAGGAAGGTCTGAGGTATTAGATGGAGTTTGGGAGAAGACTGGGGTTTGAGTTCCAGGCCTTCCTCATGTGAAATGGGGAAGACGCTCCCTGCCTCACAGGGCACTTGGGAAGACTGAATGAGATACTGTATGTGAAAATGACCCTGACCTGTGAAGTGTTGCCTCATTGTTAAATAGGACTGACCACACTGTATTGTCTGCATATGTTTGCTTGCCTCCTTCCCTCCCTTGACAGGAAAGCCTTTGCACTATGCAGATGTGTGTTCCTAACACCTAGCAAAGCACTACACTAAGGCAAGCTGCAGGACATGCTAGCTGTATGGAGAGCAGACAGACTTTGTTGAGTGCTGACCATCCCTGGCTGAACTGTGCTGGAACACTATTGAGGATTCTGGGATAAATAGAATAGATCCCTTGCTCTCATGAACGCCAAAGGACAGGGAGTCTTGTGATACTGGGTCTAGTTTCTGATGCCACAGCGCCCCTGTCTTAATAGTGAGGAGTCTCTTTTAGGCTTGAGGTTGCTGCAATCAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCTAG
Task1_train_3730
A mutation on Chromosome 2 affecting CCT7 (chaperonin containing TCP1 subunit 7) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Myocardial infarction, susceptibility to, 1
AGCGAGATCCTGTCTCTACAAAAATAAAAAAATTAGCCAGGAATGGTGGCATGTGCCTGTAGTCAGTCCCAGCTACTCGGGAGGCTGAGGTGGAAAGATGCCTTGAGCCCAGGAGTTGGAGGTTACAGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGCAGAAGAAAAAGACTTCGTTTTGTTAGCAAACTGGAGCTAATGTAGTCAGATATTCCAGTAATTGTGCCAGTGTCCTTGAGCTGCAGGTGACCTTGAAAATAGTCAGAAACCATAAGGTTCACCAGGTTGAAGTTGGGATGTTCTAGATAGGGGCTGTGTCTGGGCGTTTGGGGCTTGGGATGGAGGAAGGAATGAAGAACCACTCTTTCTGGGCTGAAGGGACCTACTGAGTGGCCCAGCATGGAAGCTTGGACCAGGGGCCCTCTTACATTGAGAGGTGGTCTGATCTCTGCAGAATGATTCAGTGGTGGCTGGTGGCGGGGCCATTGAGATGGAACTCTCCAAGTACCTGCGGGATTACTCAAGGACTATTCCAGGAAAACAGCAGCTGTTGATTGGGGCATATGCCAAGGCCTTGGAGATTATCCCACGCCAGCTGTGTGACAATGCTGGCTTTGATGCCACAAACATTCTCAACAAGCTGCGGGCTCGGCATGCCCAGGTGGGTCCTTTCTCTCCCCAGGGTTCAGGGTTTGGGCGGGTGGGGCTAGATTCTGAATGTGAGCTGTGCTTACTCAAGCTGTGCACGCCTGGCCCAGGAGATAGGCTGCAACTCCCCCCAGCCTGTCTGCCTGACCAACTCCCTCCTCTGAGGGCAGAAGGAAAGCCATGGTGCTAGCACAGGAGATCCAGGGTTTCTTCATTGCTTCTACCAAGAGTATGATCGTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAACATTCGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTATGTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCGCTGCACTCCAGCCCGGGTGGTAGTGTGAGACTCCATCTCAAAAAAAAAAAAAGAGTATGATTGCTTCTTATGGTACCACAGGAGGAACCTTGCATCCACCTTCCTGGAAGCACATACTGACCACATGGAGTGGGCTTACTGGTGTGGTGAAGCTCTCCAGAGCCCTACAAGTGTGACCCTGGGCTAGTTACTTCAACCTCTCTGAGAGTTTAATTTCTCCATTTGTTAAATAGATAGAGGTTTGTTAAGTGCTTAGCACCCAGTGAATGACCCTGCTTCTGGCTTGTATTAGGACTTTTGCTTAAAGTCACTTTACCTCTGTGTCTCACTTGCCTCATCTGTAAAATCGGGCTATTTGAAGCAATGAGATGAAAGATGGGATAGTATTTTTGTTATTCCTGTTTATCTTGAGAACTCATTGTTTGATATATATATATATATATATATATATAGTCCTCAGGTGACCTGAGGATGGGGCCGCCCCAAAACACAACAGCTTGCCTGGGAGAAGATCCCAGAGGTCTTGTGTGGTATGTCCAGGGCTAAGGGGAGGAGTTGGCGGGAGTAGGGGTGTTTCCAGGTTCCTGGCATGCTCATAGGAAGATGCAGTATTCTTCAGCGAAATGCCACCAAGTTCAGAGAGTCTGCGGGTTCCTAGCAGTGTCTTTTGGAGTACCAGTTTACAAGAGGAAAGTTGAAAGTAGTTCCATATTACCTCCTTTCTTTTCCTACTCTTTTAGGGGGGTACATGGTATGGAGTAGACATCAACAACGAGGACATTGCTGACAACTTTGAAGCTTTCGTGTGGGAGCCAGCTATGGTGCGGATCAATGCGCTGACAGCAGCCTCTGAGGCTGCGTGCCTGATCGTGTCTGTAGATGAAACCATCAAGAACCCCCGCTCGACTGTGGATGCTCCCACAGCAGCAGGCCGGGGCCGTGGTCGTGGCCGCCCCCACTGAGAGGCACCCCACCCATCACATGGCTGGCTGGCTGCTGGGTGCACTTACCCTCCTTGGCTTGGTTACTTCATTTTACAAGGAAGGGGTAGTAATTGGCCCACTCTCTTCTTACTGGAGGCTATTTAAATAAAATGTAAGACTTCAGATAACTTTGTAAATTATTTTGGCATGGTACTCATAAATGTCTGGCTGTAGCTCAGAATTTTAGCTTTACATGCACTTGTCCAACAGGGAGACAAGAGCATCCTGGGGTGAGCTCCACTAGAGTGGCCCGTCTGGAAGTTTCACTGTGGTTGCATTCTTTGTTCCAGAAGTGGCTGGACAACACGCAGTTGCTTTCTTCTGGCATCATCTTATTTAGCCCTGGCCTAGCCAGACACTGCTCTCAGGGTTTCTCTGGTTTGAGTAAATGGGTTACATTACCTTGTCTGCCCCTTCTATCTCCATATTCTTTTGGTTTAGTCTTTTGTTCCCTCTTACTCAAGACTGTGAGAAGGGTGTTTTAGGGAGGGCTTATGCTCTCTAAACTCTAGTGATCCCTTGGAAGTCTACTAAGGAGACGACTGAAAGCACCCACCTAGTCTTTTCAGTTCAGCCCCCAGTGATCTTGGTCCTTCTGCTTTCTTGTGACCAATGGGAGTTTGGAATGGCTGGCACAGATGAGCTGGAAATCCAGCAGTGTCTAACATCCTCCTGATTTACACTGGTCCTGATAGCTGGCCTGCACCCTGCTGTAGTTGGTCGTTGTTAAAAGCTGGAGGTAAATGATGATGTCATTGTCAGCCATTGAGACTTGCTAGCTAAAACTGGGAAGTGATTTTTAAAAAAAATTCTCTGAACCCAGCCACTCCTGGTTAGATGGACTCTAAAGCACAGAGGATGGCAGGCAGGTCCAGGCTTTGGAGTCTGGCATTCCTCCTAACTTGATGGTCTTTAGGTAGACTAATTTTTCTGAGCCTCTGCTATTCTACCTGTATGACAGGGTAAGAGTAGCTGGCTCAAAGAGTAGTGAGACTTAAATGTTTATTTTTATGTTAGAGACACAGTTTAAGCCTAAAAACACTTATTCTTTTTTCTGATTTTAAATATTTCAGGACCTGAGGAATCAAGTCAGGGGCAGAAGGACATTTTGTAAAATGAGGAAGTCAAGGCCAGGCCATGATGTCAACCTGGTCTCCCGCAGTCAAAGCCTGATTGGCTGGCCAGAGCCTCCTGAGTAGGCAGTCAAGCCAGGGAGGGGCTGGGCAGTGCCTGCTGCCCTGTTGTACTGGTTTTGTCCTTGAAGGTAGTCTCTCCTAGCTGAGAGTCAGAAATGATGTATCTCAAGGCGTTTCCTCTGGATACACACACTGAAAGCAGGGTTGAGCGGTGGCAGGACAGTCACCCTAGGTGGCTTTTCTGCAGTCCTGAGGCAAGTTTTTGTTGTTTCTGAGACAGGGCCTCACTCAGTTAACTAAGCTGGAGTGTGCAGTGGTGTGATCTCAGCTCACTGTAACCTCCACTTCCCTGGCTCGATATCCTCCCACCTCAGCCTCCCAAGGAGCTGGCAATACAGGCACATGCCGAGCTAATTTTTCAGTTTTTCTTGCAGAGACAGGGTTTCACTATGTTGCCCAGACTAGTCTCGAATTCCTGGGCTCAAGTGATTCTCCCGCCCCAGCCTCCCAAAGTGCTAGGATTACAGATATGAGCAACTGTGCCCGCTGGCAAGTCTTGTTATACTTCATTCCCCTGGGTTACCTGCCTCTCTGCACTTGAGCTGCAGAAAGACCATGATAACACAGATGATAAGTGTGGCCACATACCATTTACCTCTCTGGGGCAGATAGACCAGTTTCACCATCTTTTTTATTGGATACAGAGCCATAAATTCTCTGATGCCCATGTGAGTCCTTTTAAATACATACACTCAGGTACATTCAGCAAAGGGCATCTTACGGGTGACATGGAGCAAAGTGCTGGGATGGCGATGCCTGGGTGGGGCAGAGA
AGCGAGATCCTGTCTCTACAAAAATAAAAAAATTAGCCAGGAATGGTGGCATGTGCCTGTAGTCAGTCCCAGCTACTCGGGAGGCTGAGGTGGAAAGATGCCTTGAGCCCAGGAGTTGGAGGTTACAGTGAGCTATGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGCAGAAGAAAAAGACTTCGTTTTGTTAGCAAACTGGAGCTAATGTAGTCAGATATTCCAGTAATTGTGCCAGTGTCCTTGAGCTGCAGGTGACCTTGAAAATAGTCAGAAACCATAAGGTTCACCAGGTTGAAGTTGGGATGTTCTAGATAGGGGCTGTGTCTGGGCGTTTGGGGCTTGGGATGGAGGAAGGAATGAAGAACCACTCTTTCTGGGCTGAAGGGACCTACTGAGTGGCCCAGCATGGAAGCTTGGACCAGGGGCCCTCTTACATTGAGAGGTGGTCTGATCTCTGCAGAATGATTCAGTGGTGGCTGGTGGCGGGGCCATTGAGATGGAACTCTCCAAGTACCTGCGGGATTACTCAAGGACTATTCCAGGAAAACAGCAGCTGTTGATTGGGGCATATGCCAAGGCCTTGGAGATTATCCCACGCCAGCTGTGTGACAATGCTGGCTTTGATGCCACAAACATTCTCAACAAGCTGCGGGCTCGGCATGCCCAGGTGGGTCCTTTCTCTCCCCAGGGTTCAGGGTTTGGGCGGGTGGGGCTAGATTCTGAATGTGAGCTGTGCTTACTCAAGCTGTGCACGCCTGGCCCAGGAGATAGGCTGCAACTCCCCCCAGCCTGTCTGCCTGACCAACTCCCTCCTCTGAGGGCAGAAGGAAAGCCATGGTGCTAGCACAGGAGATCCAGGGTTTCTTCATTGCTTCTACCAAGAGTATGATCGTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAACATTCGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCTATGTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCGCTGCACTCCAGCCCGGGTGGTAGTGTGAGACTCCATCTCAAAAAAAAAAAAAGAGTATGATTGCTTCTTATGGTACCACAGGAGGAACCTTGCATCCACCTTCCTGGAAGCACATACTGACCACATGGAGTGGGCTTACTGGTGTGGTGAAGCTCTCCAGAGCCCTACAAGTGTGACCCTGGGCTAGTTACTTCAACCTCTCTGAGAGTTTAATTTCTCCATTTGTTAAATAGATAGAGGTTTGTTAAGTGCTTAGCACCCAGTGAATGACCCTGCTTCTGGCTTGTATTAGGACTTTTGCTTAAAGTCACTTTACCTCTGTGTCTCACTTGCCTCATCTGTAAAATCGGGCTATTTGAAGCAATGAGATGAAAGATGGGATAGTATTTTTGTTATTCCTGTTTATCTTGAGAACTCATTGTTTGATATATATATATATATATATATATATAGTCCTCAGGTGACCTGAGGATGGGGCCGCCCCAAAACACAACAGCTTGCCTGGGAGAAGATCCCAGAGGTCTTGTGTGGTATGTCCAGGGCTAAGGGGAGGAGTTGGCGGGAGTAGGGGTGTTTCCAGGTTCCTGGCATGCTCATAGGAAGATGCAGTATTCTTCAGCGAAATGCCACCAAGTTCAGAGAGTCTGCGGGTTCCTAGCAGTGTCTTTTGGAGTACCAGTTTACAAGAGGAAAGTTGAAAGTAGTTCCATATTACCTCCTTTCTTTTCCTACTCTTTTAGGGGGGTACATGGTATGGAGTAGACATCAACAACGAGGACATTGCTGACAACTTTGAAGCTTTCGTGTGGGAGCCAGCTATGGTGCGGATCAATGCGCTGACAGCAGCCTCTGAGGCTGCGTGCCTGATCGTGTCTGTAGATGAAACCATCAAGAACCCCCGCTTGACTGTGGATGCTCCCACAGCAGCAGGCCGGGGCCGTGGTCGTGGCCGCCCCCACTGAGAGGCACCCCACCCATCACATGGCTGGCTGGCTGCTGGGTGCACTTACCCTCCTTGGCTTGGTTACTTCATTTTACAAGGAAGGGGTAGTAATTGGCCCACTCTCTTCTTACTGGAGGCTATTTAAATAAAATGTAAGACTTCAGATAACTTTGTAAATTATTTTGGCATGGTACTCATAAATGTCTGGCTGTAGCTCAGAATTTTAGCTTTACATGCACTTGTCCAACAGGGAGACAAGAGCATCCTGGGGTGAGCTCCACTAGAGTGGCCCGTCTGGAAGTTTCACTGTGGTTGCATTCTTTGTTCCAGAAGTGGCTGGACAACACGCAGTTGCTTTCTTCTGGCATCATCTTATTTAGCCCTGGCCTAGCCAGACACTGCTCTCAGGGTTTCTCTGGTTTGAGTAAATGGGTTACATTACCTTGTCTGCCCCTTCTATCTCCATATTCTTTTGGTTTAGTCTTTTGTTCCCTCTTACTCAAGACTGTGAGAAGGGTGTTTTAGGGAGGGCTTATGCTCTCTAAACTCTAGTGATCCCTTGGAAGTCTACTAAGGAGACGACTGAAAGCACCCACCTAGTCTTTTCAGTTCAGCCCCCAGTGATCTTGGTCCTTCTGCTTTCTTGTGACCAATGGGAGTTTGGAATGGCTGGCACAGATGAGCTGGAAATCCAGCAGTGTCTAACATCCTCCTGATTTACACTGGTCCTGATAGCTGGCCTGCACCCTGCTGTAGTTGGTCGTTGTTAAAAGCTGGAGGTAAATGATGATGTCATTGTCAGCCATTGAGACTTGCTAGCTAAAACTGGGAAGTGATTTTTAAAAAAAATTCTCTGAACCCAGCCACTCCTGGTTAGATGGACTCTAAAGCACAGAGGATGGCAGGCAGGTCCAGGCTTTGGAGTCTGGCATTCCTCCTAACTTGATGGTCTTTAGGTAGACTAATTTTTCTGAGCCTCTGCTATTCTACCTGTATGACAGGGTAAGAGTAGCTGGCTCAAAGAGTAGTGAGACTTAAATGTTTATTTTTATGTTAGAGACACAGTTTAAGCCTAAAAACACTTATTCTTTTTTCTGATTTTAAATATTTCAGGACCTGAGGAATCAAGTCAGGGGCAGAAGGACATTTTGTAAAATGAGGAAGTCAAGGCCAGGCCATGATGTCAACCTGGTCTCCCGCAGTCAAAGCCTGATTGGCTGGCCAGAGCCTCCTGAGTAGGCAGTCAAGCCAGGGAGGGGCTGGGCAGTGCCTGCTGCCCTGTTGTACTGGTTTTGTCCTTGAAGGTAGTCTCTCCTAGCTGAGAGTCAGAAATGATGTATCTCAAGGCGTTTCCTCTGGATACACACACTGAAAGCAGGGTTGAGCGGTGGCAGGACAGTCACCCTAGGTGGCTTTTCTGCAGTCCTGAGGCAAGTTTTTGTTGTTTCTGAGACAGGGCCTCACTCAGTTAACTAAGCTGGAGTGTGCAGTGGTGTGATCTCAGCTCACTGTAACCTCCACTTCCCTGGCTCGATATCCTCCCACCTCAGCCTCCCAAGGAGCTGGCAATACAGGCACATGCCGAGCTAATTTTTCAGTTTTTCTTGCAGAGACAGGGTTTCACTATGTTGCCCAGACTAGTCTCGAATTCCTGGGCTCAAGTGATTCTCCCGCCCCAGCCTCCCAAAGTGCTAGGATTACAGATATGAGCAACTGTGCCCGCTGGCAAGTCTTGTTATACTTCATTCCCCTGGGTTACCTGCCTCTCTGCACTTGAGCTGCAGAAAGACCATGATAACACAGATGATAAGTGTGGCCACATACCATTTACCTCTCTGGGGCAGATAGACCAGTTTCACCATCTTTTTTATTGGATACAGAGCCATAAATTCTCTGATGCCCATGTGAGTCCTTTTAAATACATACACTCAGGTACATTCAGCAAAGGGCATCTTACGGGTGACATGGAGCAAAGTGCTGGGATGGCGATGCCTGGGTGGGGCAGAGA
Task1_train_3731
With a mutation on Chromosome 2 in gene ALMS1 (ALMS1 centrosome and basal body associated protein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Alstrom syndrome
CTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCA
CTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTTTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCA
Task1_train_3732
This sequence change occurs on Chromosome 2, altering TPRKB (TP53RK binding protein). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Galloway-Mowat syndrome 5
ATGGGTTGGACCCACTGGCTAGATAAGCGTGAGATTTCTGTCTTTGCAGCATCTTAGCGGATCATTGTCTGTGATGCACATCTCACTCTGAGTTAATGCCTCTTCAATGATGAAAGTGTTTTCTTCCTCTTCTACCTCTGCAGAGAGGCTTGCTGGGATAGATTTTGTTTGTAATTCTATTTCCCCACCGCCAGAGGCCGGACTTTGGGGGTCAGGCAGCTGAGAAGGAGTTTAGAACCCATGCCTAGGCCTTCCACACTCTACAGGCACCCAGTTCATCCATCAGTAGCAGAACTTAGAGTCTTCCTGGGACTCCATACTGCCTGGAGAGAGGAATTCGTTCTCTTTCATTGCTGACATTCCTGGGTGAATGCCTGTGGCAGTTATACTTTACCCATCCCATTTTGTACCTCCTTCCACTCCAGGGGACCCCAAGGGGCCTGGCTCCACTTGCCCAGTGCACCTCCGAAGAAGGGAGACTGGGAAATGAGGATCCTGCCAGGGGGCCAGGTGTTGGACAAGGTGCATGTGAATGTGGAGGAGGAAGACGGAGCCCTCCCAAGAACCTGACAGGGTCAGGGATGAGGTGAGAGTGCTCAGAAGAGTGCTGAGGCAGGACCCAGGCTGGGGCCACGGACCTGCCTCAGCAGCTGGGGTCTGACCTCTTGGGGTTGTGTTCTGACTCCCCTTCCCCCATGGCTCTTTGCCCTCTGGAAGCCAAGGGGCAATGGCAGGTTCACAGTGGCACTGCAAGGGTACAGTTGTTGGGGGTTCTTGGGAGCAGGGGCACCAGTTCTGCTGTGGCCCTGGTTGCCTCCCCTTGCCCAGGCTCCATGTGCACCCTCAGAGTCCCCCTGGCACAACCTTTCTTCTTCTCACGAGGAACACCCCCACTTCCACTTGGGCCTCTGCCAGGAAGAAGGGTGGGAGCTCTGCCGAGGTGTCCCTCTGAGTGACCACCCTCAGCTGGAGCCGCCAGGCCTCTGCACAGTAGCTGCCCCTGGGCCTTGTGTGTAAAATGGGGGTAATAACAGTATCTACCTCATAAGGTTGCTGCAAGAACTAAATGAGTTCCTAGAAGTGAAAGACACTTAGAACCAGGATCCAGAGGCTTGCGAAGGGTGAGCTGGAGTAGCCATGGTAAGTATGGAGAGGGAGGTGAACTGAGGATATAAAATCACCAAGGCAAAAAATTTAAAAACAGAAACAATAACCAGCTGGGCTCAGTGGCTCATGCCTGTAATTCCAGCGCTTTGGGAGGCGCAGCAGAAGCATCACTTGAGTCCAGGATTTTGAGACCAATCTGGGCAACATAGTGAGACCACATCTCTACAAAAAAAAAAAAAAAAATCACTAAGGCAAGAACCTAGTACACTGTAGGCATTCCATAAGTGTTTGCAATTTTTATTCTAATTATATAAAAATAAAATATATTTGAATAGAAACAGAACTCTAGAAGGCAATAACAAGTAATAGTAACTGATTATCTTTTAAAATACAACGAGGTAGGACTACAAGTGGTTTTTTTGTTTTTTTTTTTTTTGGTTTTTTTTTTTGAGACGGAGTCTCGCTCAGCTGCCCAGGCTGGAGTGCTATGGCACGATCTCAGCTCACTGCAACCTGTGCCTCCCAGGTTCATGCGATTCTCCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCATGCCCAGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGATTTCAGGCGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTAATACCATTCTGTGATTTAAACTTTTCTATAATGCACAATTAGTTTTATAGTCAGGAAAGGAAAATCAATGTTTTCTTTAATGCTGAGAATTTTTGTTAATATTTCTGACATTTCATAAAACATCTTTTGTTGACATTCTACAAATGATAGCATCCAATAATGTCCCAATACTTTCTTCTTGTGAAGAGAGTTTATATATCTGTAAAAATGAAAGACAAATTATGACTTGCTGATATCGTCATTCACTACTAATTGTCATTATACAAACATGTGTAAGTGAAATTATTCCTCATTCAATTATTGGGTTCATGGTATAACAAACAACAAATGTGATTAAAATATTCAAAGTAGAGGGCAATTCATTACTTGTATCCCCTTTAAATTGCTGCTATGGGAGTAACTCTCAAGAACATAAAAACCAAATTTCTATCCATTTTAAAAGCATACTAAATTTATTTTACATTTTAAATATACTATGTAAGTTTGATATTTAAAGGTATTCTCTTTCTTAATGTGGAGAATGGTTATGTCAGCTGAGTTTGTAATTATATTTTACATAAACCATCACACCTCCCAGTTCTTTGTATCTGTAATTTTTAAGTAATTTTTAAAATTAGATTAACTTTCTCAAAAGTTCAAAAAACAAGGAGCTCTGGTGATCAATAGGCAAACGGCATCAGCATTATTGCTCATCTATCACACTCTTTCTAAAAATATGGACTGGCAAACCTTTTTGACTTCTGTAATATTCATTATTTCAGGAAGATTTTTCAGAGAAACCTGATGACCTTCTACTTGAGATATTAGGTATTCTTGATTTATTTGTTTTTCTCCCTCTTCAATGTAAACAATTAGAATTGAAGTGTCATTTGCTGAGATACCAAATTTTTTCAAAGCCTCTGAAATCTAAGAGAAAAAAAATGAAAAAAAAAACACAAGATCATTAACCATTGTTTCCTACGTCTGAAACATTTCCTGATCTGCCTTCTTCCTTGGTCAGGCTCTTATTTTTCATGTCCTAACAGTTCTCACTGCCTACTTTTTCACTTTAATGATTCCTTTCCAACATCCATTGGCACTTCCTCAAAAGCACTCCCTGCTTAAAGGTACGCCTTGTTCCTATGGAATCAAGCCCAGCCTCTTGGCGCTGCACAAAAACACCTCCTCCCTCTGGTGCCAAGTGGCCCTCCAGCCAGGCGCTTCTGCCTTCTGGCCAGTCCAGCCTGCCTGGGGATCCAGTCACATTTCATGCCCTTCTGCCTGTGCTCAAGCTTTGTCCTCTGCTCGCATGTCCCTTCTCCTCATGGCTTGGCTGCTGAACACATGCTTCAGGGTCCACAGTTCTGATGCCACTCCCCACCACACCCTCCTCCCTCCAAAATGAATGGCTTCATTGCTGTACCCCTAGATTTGAATTCATTTTCCCATTATATCATTTATCTTAGGGCATTTTAACTTGTCTTGTTTATCTGCCTCTCCTCAGGAACATATTTGCCTCTTCTGCCCCTAGAACTGTAAATGGAACGGGGAAAAAGTTCAACAGATGTTTACTGAATTCAAGAGTTTTCTGAATTATGTCTAATGATCTCAAGGAAACCATAATTAGTAAATTTTATTCCAGGTACTGGGAATCTCTATTACCATGCTGAGATAACTGCATTTTATAAACTTGTCAATCATCTGTATTTTAACCTATGCTACAGGTTTCCTGTAGATGACATTAGTACCTGGTTGTTATTAACAGCAGCAGTAATACTAAAACTTCATCAGCAAAATTGCAGTCATTTTTTTCATGTGCTACATGTGTGATGTCTTTAGCTTGATAACTTTCATTGAAAAAGCATTACTATAAGTATTTCAAACCACAAACTCTACCTATGTACTGGGTGTGTGAGTGAGGCTGTGTTAAGGACTGTTATAGGTACAAGCAAGTTCCTGGTATATGAAAAAGACATGGATCCCACCCTCAAGGAGTTTACGGGAAGAGAGAATGATATGCAGGCTAGCACACAAAATATCCACGCCTAATGTTTTATCATTTAGATTTCTGTCAGCTTCTCAAGCAAAAATACTTGAGGGGTCTTCCTGACCCTATATGGTAAGAACAGATAAAATTAACCTCGCTTAATTTAGCTAAATTTTTGTTTACTCATATGTAAACTGTCTTAGTAAGAGGCAGGGTTAAACCTCAACTCTCTGTCCAGAGCTCTCTTCACTATTATTTGGGTTTATTACTAACCAC
ATGGGTTGGACCCACTGGCTAGATAAGCGTGAGATTTCTGTCTTTGCAGCATCTTAGCGGATCATTGTCTGTGATGCACATCTCACTCTGAGTTAATGCCTCTTCAATGATGAAAGTGTTTTCTTCCTCTTCTACCTCTGCAGAGAGGCTTGCTGGGATAGATTTTGTTTGTAATTCTATTTCCCCACCGCCAGAGGCCGGACTTTGGGGGTCAGGCAGCTGAGAAGGAGTTTAGAACCCATGCCTAGGCCTTCCACACTCTACAGGCACCCAGTTCATCCATCAGTAGCAGAACTTAGAGTCTTCCTGGGACTCCATACTGCCTGGAGAGAGGAATTCGTTCTCTTTCATTGCTGACATTCCTGGGTGAATGCCTGTGGCAGTTATACTTTACCCATCCCATTTTGTACCTCCTTCCACTCCAGGGGACCCCAAGGGGCCTGGCTCCACTTGCCCAGTGCACCTCCGAAGAAGGGAGACTGGGAAATGAGGATCCTGCCAGGGGGCCAGGTGTTGGACAAGGTGCATGTGAATGTGGAGGAGGAAGACGGAGCCCTCCCAAGAACCTGACAGGGTCAGGGATGAGGTGAGAGTGCTCAGAAGAGTGCTGAGGCAGGACCCAGGCTGGGGCCACGGACCTGCCTCAGCAGCTGGGGTCTGACCTCTTGGGGTTGTGTTCTGACTCCCCTTCCCCCATGGCTCTTTGCCCTCTGGAAGCCAAGGGGCAATGGCAGGTTCACAGTGGCACTGCAAGGGTACAGTTGTTGGGGGTTCTTGGGAGCAGGGGCACCAGTTCTGCTGTGGCCCTGGTTGCCTCCCCTTGCCCAGGCTCCATGTGCACCCTCAGAGTCCCCCTGGCACAACCTTTCTTCTTCTCACGAGGAACACCCCCACTTCCACTTGGGCCTCTGCCAGGAAGAAGGGTGGGAGCTCTGCCGAGGTGTCCCTCTGAGTGACCACCCTCAGCTGGAGCCGCCAGGCCTCTGCACAGTAGCTGCCCCTGGGCCTTGTGTGTAAAATGGGGGTAATAACAGTATCTACCTCATAAGGTTGCTGCAAGAACTAAATGAGTTCCTAGAAGTGAAAGACACTTAGAACCAGGATCCAGAGGCTTGCGAAGGGTGAGCTGGAGTAGCCATGGTAAGTATGGAGAGGGAGGTGAACTGAGGATATAAAATCACCAAGGCAAAAAATTTAAAAACAGAAACAATAACCAGCTGGGCTCAGTGGCTCATGCCTGTAATTCCAGCGCTTTGGGAGGCGCAGCAGAAGCATCACTTGAGTCCAGGATTTTGAGACCAATCTGGGCAACATAGTGAGACCACATCTCTACAAAAAAAAAAAAAAAAATCACTAAGGCAAGAACCTAGTACACTGTAGGCATTCCATAAGTGTTTGCAATTTTTATTCTAATTATATAAAAATAAAATATATTTGAATAGAAACAGAACTCTAGAAGGCAATAACAAGTAATAGTAACTGATTATCTTTTAAAATACAACGAGGTAGGACTACAAGTGGTTTTTTTGTTTTTTTTTTTTTTGGTTTTTTTTTTTGAGACGGAGTCTCGCTCAGCTGCCCAGGCTGGAGTGCTATGGCACGATCTCAGCTCACTGCAACCTGTGCCTCCCAGGTTCATGCGATTCTCCTGTCTCAGCCTCCCGAATAGCTGGGATTACAGGCACCTGCCATCATGCCCAGCTAATTTTTGTATTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAATTGCTGGGATTTCAGGCGTGAGCCACCGTGCCTGGCCTTTTTTTTTTTTTTTTAATACCATTCTGTGATTTAAACTTTTCTATAATGCACAATTAGTTTTATAGTCAGGAAAGGAAAATCAATGTTTTCTTTAATGCTGAGAATTTTTGTTAATATTTCTGACATTTCATAAAACATCTTTTGTTGACATTCTACAAATGATAGCATCCAATAATGTCCCAATACTTTCTTCTTGTGAAGAGAGTTTACATATCTGTAAAAATGAAAGACAAATTATGACTTGCTGATATCGTCATTCACTACTAATTGTCATTATACAAACATGTGTAAGTGAAATTATTCCTCATTCAATTATTGGGTTCATGGTATAACAAACAACAAATGTGATTAAAATATTCAAAGTAGAGGGCAATTCATTACTTGTATCCCCTTTAAATTGCTGCTATGGGAGTAACTCTCAAGAACATAAAAACCAAATTTCTATCCATTTTAAAAGCATACTAAATTTATTTTACATTTTAAATATACTATGTAAGTTTGATATTTAAAGGTATTCTCTTTCTTAATGTGGAGAATGGTTATGTCAGCTGAGTTTGTAATTATATTTTACATAAACCATCACACCTCCCAGTTCTTTGTATCTGTAATTTTTAAGTAATTTTTAAAATTAGATTAACTTTCTCAAAAGTTCAAAAAACAAGGAGCTCTGGTGATCAATAGGCAAACGGCATCAGCATTATTGCTCATCTATCACACTCTTTCTAAAAATATGGACTGGCAAACCTTTTTGACTTCTGTAATATTCATTATTTCAGGAAGATTTTTCAGAGAAACCTGATGACCTTCTACTTGAGATATTAGGTATTCTTGATTTATTTGTTTTTCTCCCTCTTCAATGTAAACAATTAGAATTGAAGTGTCATTTGCTGAGATACCAAATTTTTTCAAAGCCTCTGAAATCTAAGAGAAAAAAAATGAAAAAAAAAACACAAGATCATTAACCATTGTTTCCTACGTCTGAAACATTTCCTGATCTGCCTTCTTCCTTGGTCAGGCTCTTATTTTTCATGTCCTAACAGTTCTCACTGCCTACTTTTTCACTTTAATGATTCCTTTCCAACATCCATTGGCACTTCCTCAAAAGCACTCCCTGCTTAAAGGTACGCCTTGTTCCTATGGAATCAAGCCCAGCCTCTTGGCGCTGCACAAAAACACCTCCTCCCTCTGGTGCCAAGTGGCCCTCCAGCCAGGCGCTTCTGCCTTCTGGCCAGTCCAGCCTGCCTGGGGATCCAGTCACATTTCATGCCCTTCTGCCTGTGCTCAAGCTTTGTCCTCTGCTCGCATGTCCCTTCTCCTCATGGCTTGGCTGCTGAACACATGCTTCAGGGTCCACAGTTCTGATGCCACTCCCCACCACACCCTCCTCCCTCCAAAATGAATGGCTTCATTGCTGTACCCCTAGATTTGAATTCATTTTCCCATTATATCATTTATCTTAGGGCATTTTAACTTGTCTTGTTTATCTGCCTCTCCTCAGGAACATATTTGCCTCTTCTGCCCCTAGAACTGTAAATGGAACGGGGAAAAAGTTCAACAGATGTTTACTGAATTCAAGAGTTTTCTGAATTATGTCTAATGATCTCAAGGAAACCATAATTAGTAAATTTTATTCCAGGTACTGGGAATCTCTATTACCATGCTGAGATAACTGCATTTTATAAACTTGTCAATCATCTGTATTTTAACCTATGCTACAGGTTTCCTGTAGATGACATTAGTACCTGGTTGTTATTAACAGCAGCAGTAATACTAAAACTTCATCAGCAAAATTGCAGTCATTTTTTTCATGTGCTACATGTGTGATGTCTTTAGCTTGATAACTTTCATTGAAAAAGCATTACTATAAGTATTTCAAACCACAAACTCTACCTATGTACTGGGTGTGTGAGTGAGGCTGTGTTAAGGACTGTTATAGGTACAAGCAAGTTCCTGGTATATGAAAAAGACATGGATCCCACCCTCAAGGAGTTTACGGGAAGAGAGAATGATATGCAGGCTAGCACACAAAATATCCACGCCTAATGTTTTATCATTTAGATTTCTGTCAGCTTCTCAAGCAAAAATACTTGAGGGGTCTTCCTGACCCTATATGGTAAGAACAGATAAAATTAACCTCGCTTAATTTAGCTAAATTTTTGTTTACTCATATGTAAACTGTCTTAGTAAGAGGCAGGGTTAAACCTCAACTCTCTGTCCAGAGCTCTCTTCACTATTATTTGGGTTTATTACTAACCAC
Task1_train_3733
A variant affecting Chromosome 2, within the gene STAMBP (STAM binding protein), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Microcephaly-capillary malformation syndrome
TGAATCTGTATTTCTTTTAAATATAGACTTCAAGGAAACTGTTTTATATCTTTCTTTTTTTTTTTTTTTTTCCAAATAGAGATAGGATCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCAAAGCTCACTGTAACCTCAGACTTCTGGGATCGAGAGATCCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGATGCATACCACCACACCCAGCTAATTTTTGTGTTTTTTTATGTTTTGTTATATATGTTTGTGTATGTATATATATATATGTATATATATATATAAATTAAAAAATATAAATAGAGACAAGGTCTCACCCTGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCTTTTATATCTTCTTCATGAACCCAAAAGGAAGCTTTTTAAAGAACCATTTTTATTTTAGAGTCCATCCCTGCCTTGAGGAGCCTTATCAAGTTGGATCAAAATGAAACTTGTGTGCCTAATATAGAACTGAAGGATGAGGACTTATCTTTAGAAAGTTTGTTTTGGTGGGGATCATCTTTTTTCTTTATTGAGGATTCTTCTTCCAATTACTTCTGCCCCATGGGCAGTAAGTAGAAAAGAGTTTATCCCAATTACAATATAATATTTTAGAGCTATCAGCAAGCTACCTTCAATTTATTTTTTTATCTCAGTTTCTGTGTATTACAACTTAATTCTGTTAAAAGACATCTTTGTTCAGAATCCCTCCAGTAGTTCTAGACATTCCAGAATCCGTATGGAAGAAGTATGGTGTAGTGGTTAAAAGAATAGGCTCTGGAGCCAGCCTGCTCATACTGAAATTCTGAATCTGCCACTTTCTTTCTGTGACAGGTTACTGGACTTTTATTTATTTTCACTGCCCCTAAGTAGATGTCTTAAATGTTAGAGATTTGTGAATTAATTAAGTTTATTCTCCCCACTGAGCTTTAGAGCCATGGACAAGAACCAAAAGATGAAATCTAGCATCTTATATTTACCTAAGCACTTTTCATCAAAGACAGTGCATGCTAACATGTAATATGCACATACTACATGCATAGAACACATGCACTAAGTATTTCCATGCATTTTTGTATGATGCAAAGTAGTATTCTTCTTTGAAGGAACACGAATCCCAAAGGAAAAAAGCCAAAGTTAAAGGTTACATAAGAGCTAGAAGGAGTAAGGAAACATGGTTTTCTCTTGCTTCCTGCCCATGGCTGCCAAACGGTTCTCTGAAGACTGCTATGTGACAGAAGCCCTTTCCTTTGAAAACCTGTCACGTCACAACAAGAAAAAGATCTCTTTCTTTGGAGGTACATTTTTGGGCACAAGAAAGGCTTTTTAAAATTTTTTTGGCCATCTTTTTCATTGTAGGAGTCTGGTGCTTGCTGCCTAGTTTGGGAGTAGAGGAAAAGACTCTGGCTCTTTAGGGGGATAGAGATGGGAAAGGAGCATGGCCCAGCTGGGTGTATTAGCTCTCCCTCCGCTGCACTTCTGGAACCTTTCATATAAGGGCTTCAGGATAAGGGGGTTGCATAGCTTTAGGGTCTTATGGACATTTGGACCATTTGCTTCATAATCATTTTGAACTGTTTCCTTAGGCTCTTTATTGAGAAACTACCAAAACATCGAGATTACAAATCTGCTGTCATTCCTGAAAAGAAAGACACAGTAAAGGTGGGTCTTCACTTTCATTGTTGCCCATCTAAAAGCTTCAGAGCAGCACAGACTGACTTCAAGATAAAAGTAGTAGTCTCTGCATCTGAGTACCAGATCCTGCAATAGGAGATAAGGCCATTTCACCACAACAGTTCTGAAGTAGCAGGTATGGTACAGTAGGGGGTATTTTAAATCATTTTGGGAAATGTTGCAGTCACCAACTTGACTTAAGTCTTCTTTTGGATTCTGTAATTTTCTGGCATTGTTCTAATTCTATTTTCTGTTTTGTGTCTCAGAAATTAAAGGAGATTGCATTTCCCAAAGCAGAAGAGCTGAAGGCAGAGCTGTTAAAACGATATACCAAAGAATATACAGAATATAATGAAGAAAAGGTCAGTATATAACAGCTAAGAAGAAAATTATTTTGCTTTTTTAGGCTGTGCCCTGGGATTGTAATATGACATTTCAATATATCCTGTGCTTTTAATGTGCTGTTTCACCTTTTTTGGGCAAAGACCAGAAACTCAAAAAAGTAGAACACCAGTGGTTAGGCTCAGGGTTGTAACACAGATATAGCCTATTTGTCGAAGAGAGTGACTTGAGGGACAGAAAATCTGTCGCCTACCTGCTATGTCTAGAGTGAGAATCATAAGAACAATGAACATTCTCTCCAAAACATAGGTTTTTAGATCAGAGAATTTGAGGGTTGGATTCACATTTGGTTATACCTGAAGCTATTTATAAGAATTGACTTTTCAAGCTATTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCCGACTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTGACTGGGACTACAGGCATCCGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCACCCAGCCATTTCAAGCTATTTTCAAATGATTCTTTTTAGGAAGTCAGTTAAAACATGTGGAGAAACTGCCAGGGCGCTGTCAGTGGCCAGCTGTGAATACATACTGCAGCCACTCACAGGCTGTTGTGTAGCTGTCTGCTGGTCTCTATTCTGGACTCTGATGTTGAAAATCAGCAGAGGGATGAACAGCTATGAGGTATATACTTCTAAAGCACCAAGTGAGTGTAAGCTTTAAGGAGGAGGTTATTACTTAGCATTTCTTTCTTTCTTTTTTTTTTTAATCCAAATGCCTCTCAAGTATTTCTTATTAGCTTAAAATGTCACTCTGTGTTGAACAAATGCACAAAAACCATAAAAATTTCAGAGGCCTCATTTTGGGTTAAAATTCAGTAGAAGGCAAGACGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCCTGAAGTGGGTGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTCTCTACAAAAAATACAAAAATTAGTGTGGTGGCACGCACCTCTGGTTTCAGCTACTCGGGAGGCTGAGATGGGAGGATCACCTGCGCCCAGGGAGATTGAGGCTGCAGTGAGCCATGATTGACCACTACAGTCCAGCCTAGGTGACAGAGTGAGACTCTCTAAGAAAAAAAAAAAAAATTCAGTAGAGACCCCCAAGATAGCAGGTATAAGTTTGGATCTGGTTCTATTTTATAGCCTTACTTGAAATATAGAATATGTACATGACACAGAGAGAAGAATAAAACTGTCTGTGATACAGGTTAGGAGAACACAGATAGTAAGTTGCATCAAGATTTCAGGCCAGACATTGTGGCTCACACCTGGAATCCCAGCGCTTCGGGAGGCCGAGGTGGGCAGATTGTTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTGGTCCCACCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATCATGCCATTGCACTTCAGCCTGGGAAACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGATTTCAGTGAAGAGGAAAGTGCATTAGGTAGAGTCATTGTCGGGAGGGTATTGAGAGGATTGGGATTTTAATTGTCCTTGGAGATAGGTATACTGTGGCCAGATAGAAAGGGGTGGTGACTACACTCCGTGGGT
TGAATCTGTATTTCTTTTAAATATAGACTTCAAGGAAACTGTTTTATATCTTTCTTTTTTTTTTTTTTTTTCCAAATAGAGATAGGATCTCCCTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCAAAGCTCACTGTAACCTCAGACTTCTGGGATCGAGAGATCCTCCTGCCTCAGCCTCCCAAGCAGCTGGGACTACAGATGCATACCACCACACCCAGCTAATTTTTGTGTTTTTTTATGTTTTGTTATATATGTTTGTGTATGTATATATATATATGTATATATATATATAAATTAAAAAATATAAATAGAGACAAGGTCTCACCCTGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAGTCTTCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCTCTTTTATATCTTCTTCATGAACCCAAAAGGAAGCTTTTTAAAGAACCATTTTTATTTTAGAGTCCATCCCTGCCTTGAGGAGCCTTATCAAGTTGGATCAAAATGAAACTTGTGTGCCTAATATAGAACTGAAGGATGAGGACTTATCTTTAGAAAGTTTGTTTTGGTGGGGATCATCTTTTTTCTTTATTGAGGATTCTTCTTCCAATTACTTCTGCCCCATGGGCAGTAAGTAGAAAAGAGTTTATCCCAATTACAATATAATATTTTAGAGCTATCAGCAAGCTACCTTCAATTTATTTTTTTATCTCAGTTTCTGTGTATTACAACTTAATTCTGTTAAAAGACATCTTTGTTCAGAATCCCTCCAGTAGTTCTAGACATTCCAGAATCCGTATGGAAGAAGTATGGTGTAGTGGTTAAAAGAATAGGCTCTGGAGCCAGCCTGCTCATACTGAAATTCTGAATCTGCCACTTTCTTTCTGTGACAGGTTACTGGACTTTTATTTATTTTCACTGCCCCTAAGTAGATGTCTTAAATGTTAGAGATTTGTGAATTAATTAAGTTTATTCTCCCCACTGAGCTTTAGAGCCATGGACAAGAACCAAAAGATGAAATCTAGCATCTTATATTTACCTAAGCACTTTTCATCAAAGACAGTGCATGCTAACATGTAATATGCACATACTACATGCATAGAACACATGCACTAAGTATTTCCATGCATTTTTGTATGATGCAAAGTAGTATTCTTCTTTGAAGGAACACGAATCCCAAAGGAAAAAAGCCAAAGTTAAAGGTTACATAAGAGCTAGAAGGAGTAAGGAAACATGGTTTTCTCTTGCTTCCTGCCCATGGCTGCCAAACGGTTCTCTGAAGACTGCTATGTGACAGAAGCCCTTTCCTTTGAAAACCTGTCACGTCACAACAAGAAAAAGATCTCTTTCTTTGGAGGTACATTTTTGGGCACAAGAAAGGCTTTTTAAAATTTTTTTGGCCATCTTTTTCATTGTAGGAGTCTGGTGCTTGCTGCCTAGTTTGGGAGTAGAGGAAAAGACTCTGGCTCTTTAGGGGGATAGAGATGGGAAAGGAGCATGGCCCAGCTGGGTGTATTAGCTCTCCCTCCGCTGCACTTCTGGAACCTTTCATATAAGGGCTTCAGGATAAGGGGGTTGCATAGCTTTAGGGTCTTATGGACATTTGGACCATTTGCTTCATAATCATTTTGAACTGTTTCCTTAGGCTCTTTATTGAGAAACTACCAAAACATCGAGATTACAAATCTGCTGTCATTCCTGAAAAGAAAGACACAGTAAAGGTGGGTCTTCACTTTCATTGTTGCCCATCTAAAAGCTTCAGAGCAGCACAGACTGACTTCAAGATAAAAGTAGTAGTCTCTGCATCTGAGTACCAGATCCTGCAATAGGAGATAAGGCCATTTCACCACAACAGTTCTGAAGTAGCAGGTATGGTACAGTAGGGGGTATTTTAAATCATTTTGGGAAATGTTGCAGTCACCAACTTGACTTAAGTCTTCTTTTGGATTCTGTAATTTTCTGGCATTGTTCTAATTCTATTTTCTGTTTTGTGTCTCAGAAATTAAAGGAGATTGCATATCCCAAAGCAGAAGAGCTGAAGGCAGAGCTGTTAAAACGATATACCAAAGAATATACAGAATATAATGAAGAAAAGGTCAGTATATAACAGCTAAGAAGAAAATTATTTTGCTTTTTTAGGCTGTGCCCTGGGATTGTAATATGACATTTCAATATATCCTGTGCTTTTAATGTGCTGTTTCACCTTTTTTGGGCAAAGACCAGAAACTCAAAAAAGTAGAACACCAGTGGTTAGGCTCAGGGTTGTAACACAGATATAGCCTATTTGTCGAAGAGAGTGACTTGAGGGACAGAAAATCTGTCGCCTACCTGCTATGTCTAGAGTGAGAATCATAAGAACAATGAACATTCTCTCCAAAACATAGGTTTTTAGATCAGAGAATTTGAGGGTTGGATTCACATTTGGTTATACCTGAAGCTATTTATAAGAATTGACTTTTCAAGCTATTTTTTTTTTTTTTTTTTGAGACAGTCTCACTCTGTCGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCCGACTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTGACTGGGACTACAGGCATCCGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCACCCAGCCATTTCAAGCTATTTTCAAATGATTCTTTTTAGGAAGTCAGTTAAAACATGTGGAGAAACTGCCAGGGCGCTGTCAGTGGCCAGCTGTGAATACATACTGCAGCCACTCACAGGCTGTTGTGTAGCTGTCTGCTGGTCTCTATTCTGGACTCTGATGTTGAAAATCAGCAGAGGGATGAACAGCTATGAGGTATATACTTCTAAAGCACCAAGTGAGTGTAAGCTTTAAGGAGGAGGTTATTACTTAGCATTTCTTTCTTTCTTTTTTTTTTTAATCCAAATGCCTCTCAAGTATTTCTTATTAGCTTAAAATGTCACTCTGTGTTGAACAAATGCACAAAAACCATAAAAATTTCAGAGGCCTCATTTTGGGTTAAAATTCAGTAGAAGGCAAGACGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCCTGAAGTGGGTGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTCTCTACAAAAAATACAAAAATTAGTGTGGTGGCACGCACCTCTGGTTTCAGCTACTCGGGAGGCTGAGATGGGAGGATCACCTGCGCCCAGGGAGATTGAGGCTGCAGTGAGCCATGATTGACCACTACAGTCCAGCCTAGGTGACAGAGTGAGACTCTCTAAGAAAAAAAAAAAAAATTCAGTAGAGACCCCCAAGATAGCAGGTATAAGTTTGGATCTGGTTCTATTTTATAGCCTTACTTGAAATATAGAATATGTACATGACACAGAGAGAAGAATAAAACTGTCTGTGATACAGGTTAGGAGAACACAGATAGTAAGTTGCATCAAGATTTCAGGCCAGACATTGTGGCTCACACCTGGAATCCCAGCGCTTCGGGAGGCCGAGGTGGGCAGATTGTTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTGGTCCCACCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATCATGCCATTGCACTTCAGCCTGGGAAACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGATTTCAGTGAAGAGGAAAGTGCATTAGGTAGAGTCATTGTCGGGAGGGTATTGAGAGGATTGGGATTTTAATTGTCCTTGGAGATAGGTATACTGTGGCCAGATAGAAAGGGGTGGTGACTACACTCCGTGGGT
Task1_train_3734
The gene STAMBP (STAM binding protein) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Microcephaly-capillary malformation syndrome
CGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCCGACTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTGACTGGGACTACAGGCATCCGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCACCCAGCCATTTCAAGCTATTTTCAAATGATTCTTTTTAGGAAGTCAGTTAAAACATGTGGAGAAACTGCCAGGGCGCTGTCAGTGGCCAGCTGTGAATACATACTGCAGCCACTCACAGGCTGTTGTGTAGCTGTCTGCTGGTCTCTATTCTGGACTCTGATGTTGAAAATCAGCAGAGGGATGAACAGCTATGAGGTATATACTTCTAAAGCACCAAGTGAGTGTAAGCTTTAAGGAGGAGGTTATTACTTAGCATTTCTTTCTTTCTTTTTTTTTTTAATCCAAATGCCTCTCAAGTATTTCTTATTAGCTTAAAATGTCACTCTGTGTTGAACAAATGCACAAAAACCATAAAAATTTCAGAGGCCTCATTTTGGGTTAAAATTCAGTAGAAGGCAAGACGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCCTGAAGTGGGTGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTCTCTACAAAAAATACAAAAATTAGTGTGGTGGCACGCACCTCTGGTTTCAGCTACTCGGGAGGCTGAGATGGGAGGATCACCTGCGCCCAGGGAGATTGAGGCTGCAGTGAGCCATGATTGACCACTACAGTCCAGCCTAGGTGACAGAGTGAGACTCTCTAAGAAAAAAAAAAAAAATTCAGTAGAGACCCCCAAGATAGCAGGTATAAGTTTGGATCTGGTTCTATTTTATAGCCTTACTTGAAATATAGAATATGTACATGACACAGAGAGAAGAATAAAACTGTCTGTGATACAGGTTAGGAGAACACAGATAGTAAGTTGCATCAAGATTTCAGGCCAGACATTGTGGCTCACACCTGGAATCCCAGCGCTTCGGGAGGCCGAGGTGGGCAGATTGTTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTGGTCCCACCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATCATGCCATTGCACTTCAGCCTGGGAAACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGATTTCAGTGAAGAGGAAAGTGCATTAGGTAGAGTCATTGTCGGGAGGGTATTGAGAGGATTGGGATTTTAATTGTCCTTGGAGATAGGTATACTGTGGCCAGATAGAAAGGGGTGGTGACTACACTCCGTGGGTATAAAGATACTGAGGAAAGCATGAATTCTGTGTTAGGTAATCAGGCCACAGCAGAAGTACATTTTGGAAATCTCCATGCTAAAAAGCCTTGTTCTCCTGAAGTGTGAAGTCACTGAGGTGTGAAGTGTTAGCCTAAATTTTCTCTCTTTGTAGAAGAAGGAAGCAGAGGAATTGGCCCGGAACATGGCCATCCAGCAAGAGCTGGAAAAGGAAAAACAGAGGGTAGCACAACAGAAGCAGCAGCAATTGGAACAGGAACAGTTCCATGCCTTCGAGGAGATGATCCGGAACCAGGAGCTAGAAAAAGAGCGACTGAAAATTGTACAGGAGTTTGGGAAGGTAGACCCTGGCCTAGGTGGCCCGCTAGTGCCTGACTTGGAGAAGCCCTCCTTAGATGTGTTCCCCACCTTAACAGTCTCATCCATACAGCCTTCAGACTGTCACACAACTGTAAGGCCAGCTAAGCCACCTGTGGTGGACAGGTCCTTGAAACCTGGAGCACTGAGCAACTCAGAAAGTAGTAAGTGCATTTGCTGATGTCCTCTTCCTTCTCAGTTGCAGCCAAACAGTATCATTCTGACGGGGTCAACCTAAGATTACCTCCCTGATCCCACTCATTAAGCTTTGGTCACAGAAACCCATCTGATAAGTATTGCTGTACTGTGTCCTAATACACTGGCTATGTTATAAAAGTGGCCTTTGCTGAAACCTAGTCTGGTCGATTTTCTGAAGAGCTAATATTATTCTTGAAAGTCAGACTGTCAACTTTTTAGTGAAAGGAAAAGAATGTGCCAAACCGAATTCATAATCCTCAGATAACATCATCAGACTGCTGTGTGACTCTGTGTCCCCTGCTCTGACTTTGTTACCTCTCTAGCAATTCAGATCTTGCTGTTGAATACGCAAAAGCAGAACATCTTTCCCCTCCCACTTTTTTTTTTTAAATATGAAAATATAGCTGTGAGAGACACTTCCTAACTTTAGCTTGCTGGCTGTCTCACAGAGTTTCTCCATGGTGTTCAGAAACTGGGTCCATTCTTGGCATTTTTTATGAGCTGCTTTGTTCATGCCTTTTTTGGGGGACTACACTGTATTTTTTATTTTGTTGTGGTTTGGCATTTAACTTCTTCCAGAAGAGTAAGTTCAGAAGTAAATAACTGCCCAGATTGTTTTCCATTCTCAAGAATATACACCAGTGTATTTCTTTTAAAGTCATACTCTGATATTCTTATCTGAGATAAAAGAGATTTAAAATTAAAAGTTCAGATGAATGGGCAGTGTCTTAGTCCATTTTGTGCTGCTATAACAGAATACCTGAGGCTGGATAATTTATAATGAACATAAATTTATTTGGTTCATAGTTCTGGAGAGTGGAAAGTCCAAGACCCAGGGGCCTGGCAAAGGCCTTCTTGCTGCGTCATCCCACGACAGAAGGGTGGAAGGGCAAACAAAGATCCCTCATAGCCTCATCACCTCTTAAAGATCCTACCTCTCAATAATTTTGCATTAGGAATTAAGTTTCCAAAACATGAACTTTGGGAGACACAGTCAAACCACAGCAGGGAGGTTATTTTTTTAATTCTTTGTATTAGATTCTGACAGAAAATTCCCAAATGTTTCAAGAACTTGTGTCTTTTTCCCCCCTAAATTTTATTTTTTACTTTTATTTTTTAAGTTTTTGTGGGTACATAGTAGGTGTATGTATTTATGGGGTACATGAGATGTTTTGATACAGGCATGCAATATGAAATAAGCACATCATGGAGAATAGGGTATCCATCCCCTCAAGTATTTATCCTTTGAGTTACAAACAATCCAATTACATTCTTAAGGTTATTTTTAAGAAAACTTTTCTTAAGGTAGTAGTTTGCCCTTTTCTTAACTTGAATAATTAAAGCCTACTATTTTCTCTTCTTGAAGTAATGTGCTCCTTACAGCTGTGGCCCAAGATTGGAGAAGACACTTTACAGCCCTTTTTTTGGTGCCATTAGAATGAGATCCCTACTCACTGCCTGAAGTTGGGGGAATCCCAGTGGCTTAATGTTGCTCCTCCAGGGCTGCTGGCTGTGAGGTCTGCTTGAGGAGGCAGGGCTCAGTGGTCGCAGACTATTCTCCTTTCTCCTTTACAGTTCCCACAATCGATGGATTGCGCCATGTGGTGGTGCCTGGGCGGCTGTGCCCACAGTTTCTCCAGTTAGCCAGTGCCAACACTGCCCGGGGAGTGGAGACATGTGGAATTCTCTGTGGAAAACTGGTAAAAAGAAAAAAAAAACCAAACTCTTCTCTGAACCGAAACTGTTTCTTCCCCTCTTGGCATCCTGTGACTCTCAGAGAAAATATCCAGGGTCAGTTACTCTTTGTACCAAGGAACCGTGGACTGCATAATTTCATGTCACTTTGAATTTGGTGACCCTGTATTGATTGATTGAATTGAAGTGGTTATTTTAATGCTAGTAGTAAGAAATACCTAATTTTAAACTTGGTAGGAAGATCCAGTCATTATCTACATATCAATTTTTTTGGTACCTACTT
CGCCTAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCCGACTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTGACTGGGACTACAGGCATCCGCCACCATACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAAGATGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCGCTGCACCCAGCCATTTCAAGCTATTTTCAAATGATTCTTTTTAGGAAGTCAGTTAAAACATGTGGAGAAACTGCCAGGGCGCTGTCAGTGGCCAGCTGTGAATACATACTGCAGCCACTCACAGGCTGTTGTGTAGCTGTCTGCTGGTCTCTATTCTGGACTCTGATGTTGAAAATCAGCAGAGGGATGAACAGCTATGAGGTATATACTTCTAAAGCACCAAGTGAGTGTAAGCTTTAAGGAGGAGGTTATTACTTAGCATTTCTTTCTTTCTTTTTTTTTTTAATCCAAATGCCTCTCAAGTATTTCTTATTAGCTTAAAATGTCACTCTGTGTTGAACAAATGCACAAAAACCATAAAAATTTCAGAGGCCTCATTTTGGGTTAAAATTCAGTAGAAGGCAAGACGTGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCCTGAAGTGGGTGATCGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTCTCTACAAAAAATACAAAAATTAGTGTGGTGGCACGCACCTCTGGTTTCAGCTACTCGGGAGGCTGAGATGGGAGGATCACCTGCGCCCAGGGAGATTGAGGCTGCAGTGAGCCATGATTGACCACTACAGTCCAGCCTAGGTGACAGAGTGAGACTCTCTAAGAAAAAAAAAAAAAATTCAGTAGAGACCCCCAAGATAGCAGGTATAAGTTTGGATCTGGTTCTATTTTATAGCCTTACTTGAAATATAGAATATGTACATGACACAGAGAGAAGAATAAAACTGTCTGTGATACAGGTTAGGAGAACACAGATAGTAAGTTGCATCAAGATTTCAGGCCAGACATTGTGGCTCACACCTGGAATCCCAGCGCTTCGGGAGGCCGAGGTGGGCAGATTGTTTGAGCCCAGGAGTTCAAGACTAGCCTGGGCAACATGGCGAAACCCTGTCTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCACACCTGTGGTCCCACCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGGGAGGTCAAGGCTGCAGTGAGCTGTGATCATGCCATTGCACTTCAGCCTGGGAAACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAGATTTCAGTGAAGAGGAAAGTGCATTAGGTAGAGTCATTGTCGGGAGGGTATTGAGAGGATTGGGATTTTAATTGTCCTTGGAGATAGGTATACTGTGGCCAGATAGAAAGGGGTGGTGACTACACTCCGTGGGTATAAAGATACTGAGGAAAGCATGAATTCTGTGTTAGGTAATCAGGCCACAGCAGAAGTACATTTTGGAAATCTCCATGCTAAAAAGCCTTGTTCTCCTGAAGTGTGAAGTCACTGAGGTGTGAAGTGTTAGCCTAAATTTTCTCTCTTTGTAGAAGAAGGAAGCAGAGGAATTGGCCCGGAACATGGCCATCCAGCAAGAGCTGGAAAAGGAAAAACAGAGGGTAGCACAACAGAAGCAGCAGCAATTGGAACAGGAACAGTTCCATGCCTTCGAGGAGATGATCCGGAACCAGGAGCTAGAAAAAGAGCGACTGAAAATTGTACAGGAGTTTGGGAAGGTAGACCCTGGCCTAGGTGGCCCGCTAGTGCCTGACTTGGAGAAGCCCTCCTTAGATGTGTTCCCCACCTTAACAGTCTCATCCATACAGCCTTCAGACTGTCACACAACTGTAAGGCCAGCTAAGCCACCTGTGGTGGACAGGTTCTTGAAACCTGGAGCACTGAGCAACTCAGAAAGTAGTAAGTGCATTTGCTGATGTCCTCTTCCTTCTCAGTTGCAGCCAAACAGTATCATTCTGACGGGGTCAACCTAAGATTACCTCCCTGATCCCACTCATTAAGCTTTGGTCACAGAAACCCATCTGATAAGTATTGCTGTACTGTGTCCTAATACACTGGCTATGTTATAAAAGTGGCCTTTGCTGAAACCTAGTCTGGTCGATTTTCTGAAGAGCTAATATTATTCTTGAAAGTCAGACTGTCAACTTTTTAGTGAAAGGAAAAGAATGTGCCAAACCGAATTCATAATCCTCAGATAACATCATCAGACTGCTGTGTGACTCTGTGTCCCCTGCTCTGACTTTGTTACCTCTCTAGCAATTCAGATCTTGCTGTTGAATACGCAAAAGCAGAACATCTTTCCCCTCCCACTTTTTTTTTTTAAATATGAAAATATAGCTGTGAGAGACACTTCCTAACTTTAGCTTGCTGGCTGTCTCACAGAGTTTCTCCATGGTGTTCAGAAACTGGGTCCATTCTTGGCATTTTTTATGAGCTGCTTTGTTCATGCCTTTTTTGGGGGACTACACTGTATTTTTTATTTTGTTGTGGTTTGGCATTTAACTTCTTCCAGAAGAGTAAGTTCAGAAGTAAATAACTGCCCAGATTGTTTTCCATTCTCAAGAATATACACCAGTGTATTTCTTTTAAAGTCATACTCTGATATTCTTATCTGAGATAAAAGAGATTTAAAATTAAAAGTTCAGATGAATGGGCAGTGTCTTAGTCCATTTTGTGCTGCTATAACAGAATACCTGAGGCTGGATAATTTATAATGAACATAAATTTATTTGGTTCATAGTTCTGGAGAGTGGAAAGTCCAAGACCCAGGGGCCTGGCAAAGGCCTTCTTGCTGCGTCATCCCACGACAGAAGGGTGGAAGGGCAAACAAAGATCCCTCATAGCCTCATCACCTCTTAAAGATCCTACCTCTCAATAATTTTGCATTAGGAATTAAGTTTCCAAAACATGAACTTTGGGAGACACAGTCAAACCACAGCAGGGAGGTTATTTTTTTAATTCTTTGTATTAGATTCTGACAGAAAATTCCCAAATGTTTCAAGAACTTGTGTCTTTTTCCCCCCTAAATTTTATTTTTTACTTTTATTTTTTAAGTTTTTGTGGGTACATAGTAGGTGTATGTATTTATGGGGTACATGAGATGTTTTGATACAGGCATGCAATATGAAATAAGCACATCATGGAGAATAGGGTATCCATCCCCTCAAGTATTTATCCTTTGAGTTACAAACAATCCAATTACATTCTTAAGGTTATTTTTAAGAAAACTTTTCTTAAGGTAGTAGTTTGCCCTTTTCTTAACTTGAATAATTAAAGCCTACTATTTTCTCTTCTTGAAGTAATGTGCTCCTTACAGCTGTGGCCCAAGATTGGAGAAGACACTTTACAGCCCTTTTTTTGGTGCCATTAGAATGAGATCCCTACTCACTGCCTGAAGTTGGGGGAATCCCAGTGGCTTAATGTTGCTCCTCCAGGGCTGCTGGCTGTGAGGTCTGCTTGAGGAGGCAGGGCTCAGTGGTCGCAGACTATTCTCCTTTCTCCTTTACAGTTCCCACAATCGATGGATTGCGCCATGTGGTGGTGCCTGGGCGGCTGTGCCCACAGTTTCTCCAGTTAGCCAGTGCCAACACTGCCCGGGGAGTGGAGACATGTGGAATTCTCTGTGGAAAACTGGTAAAAAGAAAAAAAAAACCAAACTCTTCTCTGAACCGAAACTGTTTCTTCCCCTCTTGGCATCCTGTGACTCTCAGAGAAAATATCCAGGGTCAGTTACTCTTTGTACCAAGGAACCGTGGACTGCATAATTTCATGTCACTTTGAATTTGGTGACCCTGTATTGATTGATTGAATTGAAGTGGTTATTTTAATGCTAGTAGTAAGAAATACCTAATTTTAAACTTGGTAGGAAGATCCAGTCATTATCTACATATCAATTTTTTTGGTACCTACTT
Task1_train_3735
This variant lies on Chromosome 2 and affects the gene STAMBP (STAM binding protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; not provided
GATTGTTTTCCATTCTCAAGAATATACACCAGTGTATTTCTTTTAAAGTCATACTCTGATATTCTTATCTGAGATAAAAGAGATTTAAAATTAAAAGTTCAGATGAATGGGCAGTGTCTTAGTCCATTTTGTGCTGCTATAACAGAATACCTGAGGCTGGATAATTTATAATGAACATAAATTTATTTGGTTCATAGTTCTGGAGAGTGGAAAGTCCAAGACCCAGGGGCCTGGCAAAGGCCTTCTTGCTGCGTCATCCCACGACAGAAGGGTGGAAGGGCAAACAAAGATCCCTCATAGCCTCATCACCTCTTAAAGATCCTACCTCTCAATAATTTTGCATTAGGAATTAAGTTTCCAAAACATGAACTTTGGGAGACACAGTCAAACCACAGCAGGGAGGTTATTTTTTTAATTCTTTGTATTAGATTCTGACAGAAAATTCCCAAATGTTTCAAGAACTTGTGTCTTTTTCCCCCCTAAATTTTATTTTTTACTTTTATTTTTTAAGTTTTTGTGGGTACATAGTAGGTGTATGTATTTATGGGGTACATGAGATGTTTTGATACAGGCATGCAATATGAAATAAGCACATCATGGAGAATAGGGTATCCATCCCCTCAAGTATTTATCCTTTGAGTTACAAACAATCCAATTACATTCTTAAGGTTATTTTTAAGAAAACTTTTCTTAAGGTAGTAGTTTGCCCTTTTCTTAACTTGAATAATTAAAGCCTACTATTTTCTCTTCTTGAAGTAATGTGCTCCTTACAGCTGTGGCCCAAGATTGGAGAAGACACTTTACAGCCCTTTTTTTGGTGCCATTAGAATGAGATCCCTACTCACTGCCTGAAGTTGGGGGAATCCCAGTGGCTTAATGTTGCTCCTCCAGGGCTGCTGGCTGTGAGGTCTGCTTGAGGAGGCAGGGCTCAGTGGTCGCAGACTATTCTCCTTTCTCCTTTACAGTTCCCACAATCGATGGATTGCGCCATGTGGTGGTGCCTGGGCGGCTGTGCCCACAGTTTCTCCAGTTAGCCAGTGCCAACACTGCCCGGGGAGTGGAGACATGTGGAATTCTCTGTGGAAAACTGGTAAAAAGAAAAAAAAAACCAAACTCTTCTCTGAACCGAAACTGTTTCTTCCCCTCTTGGCATCCTGTGACTCTCAGAGAAAATATCCAGGGTCAGTTACTCTTTGTACCAAGGAACCGTGGACTGCATAATTTCATGTCACTTTGAATTTGGTGACCCTGTATTGATTGATTGAATTGAAGTGGTTATTTTAATGCTAGTAGTAAGAAATACCTAATTTTAAACTTGGTAGGAAGATCCAGTCATTATCTACATATCAATTTTTTTGGTACCTACTTTATGGTAGGACCTGGGAATATAAAATATGTAAAGCACATAGTATGTGTCCACGAAAAGTGCCCAGTCACTTTGGAGAGAAGGCAGACATGCACTAAAGTCTAACCAGCATGCTGAAAAATATGTACAGTATAAGTATTGGGAATTTTGAGGAAGGAAAGGTCACTGAATGGAGGCACTTAAAGAACCCATTACTGCTGAATGAATAAATAAATGAAGTAGAGTAAATGTAAGCCGAGGCTTACAGGATGAGAAGGGCTTAAGGAAACAGTGACAGGACAACAACTTTAGACCTGAGCAAGGGAAGAGAAATGGTACTCTACCCAGAGCTTCTCAGCAGAGCAGTTTGGCACAGCAGGAAATTCCCTCAGGGCTGTGGTGTTTGCCCAGGCTGCAGAGTTCTGGGGTTGGTCTCTGCATCTGTCGCTGTACAGAGTACCCCAGGCAATGTGCATCAGCAGCCAAGGTTGTGAACCACTGAGTGGCAGGACTCCTGCTGTGTGGGAAGGGCTTTCACTTGTATAGATGCTTACCTTTCCACTGTCGGGATGGAGTGGAGCAGGGTTGCATGAGCACCAGGGAATTGTGACCAGCTGTTTTCTCCTTTGGCAGATGAGGAATGAATTTACCATTACCCATGTTCTCATCCCCAAGCAAAGTGCTGGGTCTGATTACTGCAACACAGAGAACGAAGAAGAACTTTTCCTCATACAGGATCAGCAGGGCCTCATCACACTGGGCTGGATTCATGTAAGCAATTCTGAGCTGTCCGAGAGTTAGTCTCTGCCTCTCCCATGGTGGTATAAATACATGAGTGTTTCTTTGAACAAAGTCAATTATATCCAGATTATTTATTGTTTTTCTCTCTTTTGGATGCAGTCCTTAGCATACTTGACTATTGCACTTTGGTATTGTTTTCTGGGAACACTTAGGGCTTTTAAATTTTTTTAACTTTTTATTTATTTTTTAGTAAAAATAAACTGTTTTCCCTAAAGTTCCAGTTTCCCTCTGAGTGTAACTGGTGATGGGATGCTGGCCTAGAATATAAGTGGACATTGACCTTAGAGACTATGCCTACTGTGTACAGATGATGTTCCTTAAAGGTATATAATTCAAAATATTTTAAATGAGCCAAGGAGGTTAATTCAGATGCTTGCATTTGGTCTTTCTTAAAGCACCTTTATATAAACAAGAAGGGCTATAAATACACATGATTTTCAAGTGTCTGCATATCTTGTGCAGCCTTCTGGTAATGTTCAGGTAAAATATAATGCCTTCCCTAAAGATTATTTTTAAATTTTTCTTTCTATTCCTTTTCAACCCCTCACTCTCATAGCCCAAGCTGCATTTTATGCTGTATGACAGAGTTACAAATAAATTGGCTTATTCTTGGATTACACATACTTGTATGCCAGAATTTGGGAAAGACTGACCTGTGAGGCAGTCCCATGTGCCTTCTGTCCTTTCTTCTATTCAATTACATTCATGTTGATGATTTGCCTATTATTGTGTATCCCCATCCCACCCCCATTGTAGTAGATGGGGGAGAGAAAACTTGTTCCTTATCTGCCAGGGCATACAAATTTGAGTAAGGTATGATTTTAGCCTCATGAAGGAGATTAAATAAATAGACAATTAATAACTTCACCTGGGGCAGAACGTGCTAAAGGCCACAAGAGGTGCCAGCGAGGCACTGTGGAATTCAGAGGAAGGAGGGACCATGCCTGATAGGGTTTAGTAGAATGTTGGCAAGCTGGGCCAAGGGCAAGTTCCTTAAGGAGCAGACAGGTGGAGAAGAGGCGGACTCTGTCCCTGGAGCACTGGGGGGACCAGTTCACTGAGATTTATGGTTCATATCAGGAAACAGTGGTAGATTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTTTCACCCAGACTGGAGTGCAATGGCAAGATCTTGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGATTTCACCATGTTGGCCAGACTGGTCTCGAACTACTGATCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCTAGATATGTTTTAATGTAGTACATTGGAGCCGAGTTCTGGAGGGTCTGGGGTGGACAGGCAGAATTGTTCCACTTTTTAGTAAGTGGAAAATTCCTAAAGGTTTTTGAGTAGAGCAATGATATGATTAAAGCCATACTTTAGAAAATTTAACATAAATACAGTTTTAAGGTAGGTTGTGGCAAGGAGATGATTTAAGAGGTTAGTGTGCTGATAAAGCCTAATAATGATAAGAGCTAGGGTGATGCTAGTGTGTTTGGGAAGGAGGAGATGAATGTAGGATTTCAGAGGATTTGGGAAATGAGTAATAGAGGATGATGACTCAGAGTCAATGGTGACTCAGAGATTTGGGGCCTTGCAGTGATCATCTCATAAGCAAAAGTAGGGGATCCAGGAGAAGGATTTGGTTTGAAAGTGGGGTTCAGTTCTGAGCATGTTAAATTTCAGGTATTGATGAGATATTAAATCACTGGAGGTAGTTATCAGCCAGTTGGCAATGTAGGGCTAGAACTTGGGAGCAAAGTCAAAGCAGGAGAGAGGGCTCTGGGAATCCACTA
GATTGTTTTCCATTCTCAAGAATATACACCAGTGTATTTCTTTTAAAGTCATACTCTGATATTCTTATCTGAGATAAAAGAGATTTAAAATTAAAAGTTCAGATGAATGGGCAGTGTCTTAGTCCATTTTGTGCTGCTATAACAGAATACCTGAGGCTGGATAATTTATAATGAACATAAATTTATTTGGTTCATAGTTCTGGAGAGTGGAAAGTCCAAGACCCAGGGGCCTGGCAAAGGCCTTCTTGCTGCGTCATCCCACGACAGAAGGGTGGAAGGGCAAACAAAGATCCCTCATAGCCTCATCACCTCTTAAAGATCCTACCTCTCAATAATTTTGCATTAGGAATTAAGTTTCCAAAACATGAACTTTGGGAGACACAGTCAAACCACAGCAGGGAGGTTATTTTTTTAATTCTTTGTATTAGATTCTGACAGAAAATTCCCAAATGTTTCAAGAACTTGTGTCTTTTTCCCCCCTAAATTTTATTTTTTACTTTTATTTTTTAAGTTTTTGTGGGTACATAGTAGGTGTATGTATTTATGGGGTACATGAGATGTTTTGATACAGGCATGCAATATGAAATAAGCACATCATGGAGAATAGGGTATCCATCCCCTCAAGTATTTATCCTTTGAGTTACAAACAATCCAATTACATTCTTAAGGTTATTTTTAAGAAAACTTTTCTTAAGGTAGTAGTTTGCCCTTTTCTTAACTTGAATAATTAAAGCCTACTATTTTCTCTTCTTGAAGTAATGTGCTCCTTACAGCTGTGGCCCAAGATTGGAGAAGACACTTTACAGCCCTTTTTTTGGTGCCATTAGAATGAGATCCCTACTCACTGCCTGAAGTTGGGGGAATCCCAGTGGCTTAATGTTGCTCCTCCAGGGCTGCTGGCTGTGAGGTCTGCTTGAGGAGGCAGGGCTCAGTGGTCGCAGACTATTCTCCTTTCTCCTTTACAGTTCCCACAATCGATGGATTGCGCCATGTGGTGGTGCCTGGGCGGCTGTGCCCACAGTTTCTCCAGTTAGCCAGTGCCAACACTGCCCGGGGAGTGGAGACATGTGGAATTCTCTGTGGAAAACTGGTAAAAAGAAAAAAAAAACCAAACTCTTCTCTGAACCGAAACTGTTTCTTCCCCTCTTGGCATCCTGTGACTCTCAGAGAAAATATCCAGGGTCAGTTACTCTTTGTACCAAGGAACCGTGGACTGCATAATTTCATGTCACTTTGAATTTGGTGACCCTGTATTGATTGATTGAATTGAAGTGGTTATTTTAATGCTAGTAGTAAGAAATACCTAATTTTAAACTTGGTAGGAAGATCCAGTCATTATCTACATATCAATTTTTTTGGTACCTACTTTATGGTAGGACCTGGGAATATAAAATATGTAAAGCACATAGTATGTGTCCACGAAAAGTGCCCAGTCACTTTGGAGAGAAGGCAGACATGCACTAAAGTCTAACCAGCATGCTGAAAAATATGTACAGTATAAGTATTGGGAATTTTGAGGAAGGAAAGGTCACTGAATGGAGGCACTTAAAGAACCCATTACTGCTGAATGAATAAATAAATGAAGTAGAGTAAATGTAAGCCGAGGCTTACAGGATGAGAAGGGCTTAAGGAAACAGTGACAGGACAACAACTTTAGACCTGAGCAAGGGAAGAGAAATGGTACTCTACCCAGAGCTTCTCAGCAGAGCAGTTTGGCACAGCAGGAAATTCCCTCAGGGCTGTGGTGTTTGCCCAGGCTGCAGAGTTCTGGGGTTGGTCTCTGCATCTGTCGCTGTACAGAGTACCCCAGGCAATGTGCATCAGCAGCCAAGGTTGTGAACCACTGAGTGGCAGGACTCCTGCTGTGTGGGAAGGGCTTTCACTTGTATAGATGCTTACCTTTCCACTGTCGGGATGGAGTGGAGCAGGGTTGCATGAGCACCAGGGAATTGTGACCAGCTGTTTTCTCCTTTGGCAGATGAGGAATGAATTTACCATTACCCATGTTCTCATCCCCAAGCAAAGTGCTGGGTCTGATTACTGCAACATAGAGAACGAAGAAGAACTTTTCCTCATACAGGATCAGCAGGGCCTCATCACACTGGGCTGGATTCATGTAAGCAATTCTGAGCTGTCCGAGAGTTAGTCTCTGCCTCTCCCATGGTGGTATAAATACATGAGTGTTTCTTTGAACAAAGTCAATTATATCCAGATTATTTATTGTTTTTCTCTCTTTTGGATGCAGTCCTTAGCATACTTGACTATTGCACTTTGGTATTGTTTTCTGGGAACACTTAGGGCTTTTAAATTTTTTTAACTTTTTATTTATTTTTTAGTAAAAATAAACTGTTTTCCCTAAAGTTCCAGTTTCCCTCTGAGTGTAACTGGTGATGGGATGCTGGCCTAGAATATAAGTGGACATTGACCTTAGAGACTATGCCTACTGTGTACAGATGATGTTCCTTAAAGGTATATAATTCAAAATATTTTAAATGAGCCAAGGAGGTTAATTCAGATGCTTGCATTTGGTCTTTCTTAAAGCACCTTTATATAAACAAGAAGGGCTATAAATACACATGATTTTCAAGTGTCTGCATATCTTGTGCAGCCTTCTGGTAATGTTCAGGTAAAATATAATGCCTTCCCTAAAGATTATTTTTAAATTTTTCTTTCTATTCCTTTTCAACCCCTCACTCTCATAGCCCAAGCTGCATTTTATGCTGTATGACAGAGTTACAAATAAATTGGCTTATTCTTGGATTACACATACTTGTATGCCAGAATTTGGGAAAGACTGACCTGTGAGGCAGTCCCATGTGCCTTCTGTCCTTTCTTCTATTCAATTACATTCATGTTGATGATTTGCCTATTATTGTGTATCCCCATCCCACCCCCATTGTAGTAGATGGGGGAGAGAAAACTTGTTCCTTATCTGCCAGGGCATACAAATTTGAGTAAGGTATGATTTTAGCCTCATGAAGGAGATTAAATAAATAGACAATTAATAACTTCACCTGGGGCAGAACGTGCTAAAGGCCACAAGAGGTGCCAGCGAGGCACTGTGGAATTCAGAGGAAGGAGGGACCATGCCTGATAGGGTTTAGTAGAATGTTGGCAAGCTGGGCCAAGGGCAAGTTCCTTAAGGAGCAGACAGGTGGAGAAGAGGCGGACTCTGTCCCTGGAGCACTGGGGGGACCAGTTCACTGAGATTTATGGTTCATATCAGGAAACAGTGGTAGATTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTTTCACCCAGACTGGAGTGCAATGGCAAGATCTTGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCGCCCGCCACCATGCCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGATTTCACCATGTTGGCCAGACTGGTCTCGAACTACTGATCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCTAGATATGTTTTAATGTAGTACATTGGAGCCGAGTTCTGGAGGGTCTGGGGTGGACAGGCAGAATTGTTCCACTTTTTAGTAAGTGGAAAATTCCTAAAGGTTTTTGAGTAGAGCAATGATATGATTAAAGCCATACTTTAGAAAATTTAACATAAATACAGTTTTAAGGTAGGTTGTGGCAAGGAGATGATTTAAGAGGTTAGTGTGCTGATAAAGCCTAATAATGATAAGAGCTAGGGTGATGCTAGTGTGTTTGGGAAGGAGGAGATGAATGTAGGATTTCAGAGGATTTGGGAAATGAGTAATAGAGGATGATGACTCAGAGTCAATGGTGACTCAGAGATTTGGGGCCTTGCAGTGATCATCTCATAAGCAAAAGTAGGGGATCCAGGAGAAGGATTTGGTTTGAAAGTGGGGTTCAGTTCTGAGCATGTTAAATTTCAGGTATTGATGAGATATTAAATCACTGGAGGTAGTTATCAGCCAGTTGGCAATGTAGGGCTAGAACTTGGGAGCAAAGTCAAAGCAGGAGAGAGGGCTCTGGGAATCCACTA
Task1_train_3736
The gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Chronic intestinal pseudoobstruction
CGCTTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACATTGACTGAGGCAGCCGCAAATATACCAAATTGTATTATTGCTTAGTACATGGCTTTATCAAGAGGGATATCCTATTCTGGACCTTGTGGGCTGGTTTAGAGAGTGAGGACTCATCTCTGGGGCTATGGGAGACATAAGGATCAGCAGAGACAGAGGCAAAGCTGGATTTAAGAAGTCACAGCAGGCCTCTCCCCTAGTATGAGCCTTGCTTTGAACATATCTGGGAAGGGCTTCCTTTTAGTCTTGAAAATGTTTACAAGCCTCTGCTCAGCATCTACCTAGCCTTCAGACCTCGCGTTCTCAGGCCTGTGGTGCTGTCTCCTCTCTGCTTCAGTATGGTCTTCTCTGTCCAGCTTCTGCATGAGGCCATCTGGGGCCAAGGGTCACAGGTTTTAGAAGTTCCCCTCTCCCCGCTCCATGCCATAGGCACCTGCAATCGCACATCCTGGATAAAACTTCAGCCGGCCTTCTCTTTATGTGCCTGGCGCCTCTCTTTTCTCTGGGTTTTTGGAAGTCTGCCTGCCCAGCCCCTCAGCTGGGGCCTTCCCCACTTCTGCCCCGCCCCACTGGGTCCTCCCAGGGTAGGAGGCAATCTCTGACTGTCTTCCGAGGCTCTGTTGCTTCTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCC
CGCTTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACATTGACTGAGGCAGCCGCAAATATACCAAATTGTATTATTGCTTAGTACATGGCTTTATCAAGAGGGATATCCTATTCTGGACCTTGTGGGCTGGTTTAGAGAGTGAGGACTCATCTCTGGGGCTATGGGAGACATAAGGATCAGCAGAGACAGAGGCAAAGCTGGATTTAAGAAGTCACAGCAGGCCTCTCCCCTAGTATGAGCCTTGCTTTGAACATATCTGGGAAGGGCTTCCTTTTAGTCTTGAAAATGTTTACAAGCCTCTGCTCAGCATCTACCTAGCCTTCAGACCTCGCGTTCTCAGGCCTGTGGTGCTGTCTCCTCTCTGCTTCAGTATGGTCTTCTCTGTCCAGCTTCTGCATGAGGCCATCTGGGGCCAAGGGTCACAGGTTTTAGAAGTTCCCCTCTCCCCGCTCCATGCCATAGGCACCTGCAATCGCACATCCTGGATAAAACTTCAGCCGGCCTTCTCTTTATGTGCCTGGCGCCTCTCTTTTCTCTGGGTTTTTGGAAGTCTGCCTGCCCAGCCCCTCAGCTGGGGCCTTCCCCACTTCTGCCCCGCCCCACTGGGTCCTCCCAGGGTAGGAGGCAATCTCTGACTGTCTTCCGAGGCTCTGTTGCTTCTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCACCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCC
Task1_train_3737
Assess the clinical impact of this variant on gene ACTG2 (actin gamma 2, smooth muscle), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Visceral myopathy 1
TTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACATTGACTGAGGCAGCCGCAAATATACCAAATTGTATTATTGCTTAGTACATGGCTTTATCAAGAGGGATATCCTATTCTGGACCTTGTGGGCTGGTTTAGAGAGTGAGGACTCATCTCTGGGGCTATGGGAGACATAAGGATCAGCAGAGACAGAGGCAAAGCTGGATTTAAGAAGTCACAGCAGGCCTCTCCCCTAGTATGAGCCTTGCTTTGAACATATCTGGGAAGGGCTTCCTTTTAGTCTTGAAAATGTTTACAAGCCTCTGCTCAGCATCTACCTAGCCTTCAGACCTCGCGTTCTCAGGCCTGTGGTGCTGTCTCCTCTCTGCTTCAGTATGGTCTTCTCTGTCCAGCTTCTGCATGAGGCCATCTGGGGCCAAGGGTCACAGGTTTTAGAAGTTCCCCTCTCCCCGCTCCATGCCATAGGCACCTGCAATCGCACATCCTGGATAAAACTTCAGCCGGCCTTCTCTTTATGTGCCTGGCGCCTCTCTTTTCTCTGGGTTTTTGGAAGTCTGCCTGCCCAGCCCCTCAGCTGGGGCCTTCCCCACTTCTGCCCCGCCCCACTGGGTCCTCCCAGGGTAGGAGGCAATCTCTGACTGTCTTCCGAGGCTCTGTTGCTTCTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACC
TTGGGCCTGGGAGGTCGAGTCTGCAGTGAACTGTGTTCTTGCCACTGTACTGCAGCTTGGGTGACAGAGCAAGACCCCATCTCAAAAAATATATATATATATATCTTCTGATTCAGCTCATTTTCTGTGCCTTTTGAGATCTTCTTGGACTTTTATTCTTTCACCCAGTGTATTTAATATTACTCTCTCCCAGCTGTTTTATCTGAAAACTTTATCAACCTGTGCTTTATATTTTCATTCAATTCATTTATAAAAATGTCACATGAGAAAGGGTCAAGAGTAGAGCCCTGGGACATATTGCTGCCTCCTCATTGACATTGACTGAGGCAGCCGCAAATATACCAAATTGTATTATTGCTTAGTACATGGCTTTATCAAGAGGGATATCCTATTCTGGACCTTGTGGGCTGGTTTAGAGAGTGAGGACTCATCTCTGGGGCTATGGGAGACATAAGGATCAGCAGAGACAGAGGCAAAGCTGGATTTAAGAAGTCACAGCAGGCCTCTCCCCTAGTATGAGCCTTGCTTTGAACATATCTGGGAAGGGCTTCCTTTTAGTCTTGAAAATGTTTACAAGCCTCTGCTCAGCATCTACCTAGCCTTCAGACCTCGCGTTCTCAGGCCTGTGGTGCTGTCTCCTCTCTGCTTCAGTATGGTCTTCTCTGTCCAGCTTCTGCATGAGGCCATCTGGGGCCAAGGGTCACAGGTTTTAGAAGTTCCCCTCTCCCCGCTCCATGCCATAGGCACCTGCAATCGCACATCCTGGATAAAACTTCAGCCGGCCTTCTCTTTATGTGCCTGGCGCCTCTCTTTTCTCTGGGTTTTTGGAAGTCTGCCTGCCCAGCCCCTCAGCTGGGGCCTTCCCCACTTCTGCCCCGCCCCACTGGGTCCTCCCAGGGTAGGAGGCAATCTCTGACTGTCTTCCGAGGCTCTGTTGCTTCTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCTTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACC
Task1_train_3738
The gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Visceral myopathy 1
CTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTG
CTCCTTCATCACCAAATGCCAGGAATTTGTCAGATGCTGTTTGTAACTCAAAAGAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGACGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTG
Task1_train_3739
Here is a genetic alteration in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Visceral myopathy 1
GAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGTCCAGCCTG
GAAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGGGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGTCCAGCCTG
Task1_train_3740
Given a variant located on Chromosome 2 and affecting ACTG2 (actin gamma 2, smooth muscle), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Visceral myopathy 1
AAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCGAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGTCCAGCCTGG
AAAGAAAGAAAAAGAAAAAGATACAGGAAGGAAGGAAGGCAGAAAAAGAGAAAGAAAGAATGCGTGCAGCAGATGTTGGGAAAGTTAATTTCTTCATTATTTTGCATCCATCCCAGTTCGGATCTCAGCATGGGGTAGGGAATCCTCTGTTGTCCCCATCTGTCGAGGCAACAGTGAGTCCCATCATGGAGTCCCTTCTTTTCCTCTCTCCTCCCAGAGTGCCCCTTCCTCATCAAGGTGCTTCTACCCTTAGGAGTGTACATTTCACCTATAACCACTGCCTATTTTTTCCTAGTGATATGTTATGCTATTGATTTTTAATTATATAAACTATATGCAAATGCAGCCTCCTTGTAAAAAAATTAAAATATTATAGATATAACCCAGCACTTCTTCTCCCAGTTCCTTTCCACACTCCCAGAGGTAATCATGATAATCAGTTTGCTAGGTGTCCTTCCAGAACTTTTAGCTTCTTTCTTTGGCTTGTATATGGCCACCTTCTCACTGCATCCTCCCGTGGCCTACCCTCTGCATGCATCTGGATCCTAATTCCCTCTTCTTATAAAGACACCCATTGTACTGGAGTAGTCATACTGGATGACAGCCATATTGCATTAATCTCATTTTAACTTAATTACCTCTTTAAAGACCCTATCTCCAAATACAGTCACCTTCTGTGTACTGGGGGTTAGGACTTCAACATGAATTTTTGGGGGGACACAATTCACATTTCAGGGCAGAGGGAGGAGGCTCAACTGCCAGTGAGTGGGAGGCCAAGCCCATGCCTGTCCCTCCTGGAAGTGTGCCCTGATTGCAGGTAGGGTCAGGCCCCAAAGCCAAGAAACTGTCTCCAAACTGATTTGACAAGTGGCTGACTAGTTCTCTTCTCCCGCAAATCCCAAGGTGCTCCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGTGCGTGCTCATCTGGATACCACCAGGCTTTGAGCCACTAGGAGTAAGCGCTGCACTGTGGAGACCCTGCTGAGCTGGGGGTTAGGGGAAGGAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGTGTGTGTGTGTGTGTGTCTGTGCATGCACATGCGTGTGTGCACGCCAGGTGTAGGGAGTTCTTTTCTGATTAACTGATAGAGCAGGACCCTTTAAATAGAAATATCCAGGGCCAAAACCAACATACATCAGGCACACAATGACACTACTATGTCTGGCTTACATTTGGGGGGTTGCCAGGTTTGGAAAAGTTAATTTATATGGGATTGAACAAGCCTCTTGCCTTTAAGAAATTTACACTTTGTGAAGAAATACACATAACTAACCAGAGATCATGGGCTGTAATAGAGGTAAAATATTTCACAGGAAGGGAAAAGTATCACAGAAAAAGTAATATCTGAGAATAAGAAGGATTTCAGCAGGTGGAGAGAATAGCAAAGATTTGGAGATCTAAGCAGGCACAGGGGACTTGAGGAGGATGCATACAAGTCGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTAGTAGGATGAGGGGAAGAAGTGTATGGGAGGGGCTTGTTTTATCTCAGAAAACATCGTTGTCTGAAGAGAAAGAAGAAAGGCCACCACACAAGAAATCCTCCACCTTCTCTTCCTGACACCTTCATACTCACTGGCATCTGCTCCATCCTGTCTCCTGCTATCCTGTTTCTGGGGGAAGAAAGGCTGTTTTTCCCATCCTTATCCTTCTTCAGAGACCTTCCAGTGCCTGAATCCCTCTGTGTGGAGCCCTCAGCCATTCATTTCTCTTTTCTTCTTTTTGCATTGCAGGGTGTGATGGTGGGAATGGGCCAGAAAGACAGCTATGTGGGGGATGAGGCTCAGAGCAAGCAAGGGATCCTAACTCTCAAATACCCCATTGAACACGGCATCATCACCAACTGGGATGACATGGAGAAGGTATCTGTAGACTTCCCCTTAATGAGCCTGCTTTAATGATCACCCATCATCATGACCCTCGTATTCATAGGCCACTGTGCTCTGTCAACTCTCCCTCTAAAATGCTTCTCACTTCTGTCTTTCCTTTCTTTTCAGCCCCACGACCATTTCTCCAACCTAGGCTGCCAACATCTCTCCCTGGACTATTGCAATGGCTTCCTGGCTGATTTCTTGGTCTCTTGCCCTCATTCACCGAATTAATTCTCTACACTGCTGCAAAACTGATCTTTCTAAACACAGGTCAGCTCATGTCACTCACCTCCTCAGAAATCTTCAGTAGCTCTTCATTAACCAACAGGGGGTTCCTAACTCCCCGTCTTGGCATTGGAGGACCTTTCCCTGCCTGATCCCCGCGATCATCTTTTCCTGCAATATTTACTCAGGCCAGTGCTCACCCCTTCTTTAAAATGCTGGTGCTGGCTCAAGAGAGGCAAACAGCCATCTCTCTCATTCTTATCTTCCCTGTCAAGACTTCACATAGGTGGACTGATGCTAGACTATGATGATGAGTCTCCAGTGAAAGTTTCTAAGTAGAACTCTCTCAGGGTTTCTAGAAGCATTTTTGTTTAAGAAAATATTGTGGGGGGAGCGGGATTTTTAAATGGTGGAGCTCATGGTAAACAAAATTATGTGTGCAAAATGTTAATAGAGCCTTTCTAATATTCTTGTGATTAACTCTGGTGACAGTTGGCTGAGTGTTCTTGTTTCTGCAACGCCTGTCTTTGGAAATGTGATAGGGGGCTTATTGAGCAGACTGCAACTGGAAATGAGGAATGTTGACTTGAAGTCTGTAATTCACTTATACTTTTCTCTAAATCCTAGACTGAGTCACTCAATGTGAGATAAGTACTGCACATAAAATGCAATGGATTTCACGTTATACAGTGGAGTGGGTAAGAGCACAGACATTAGAGGCAATGGCAGGAAATCCAGGTGCAAATCCCACCCTATAAGTCTTAGTTTTCCCATTTGTAAAGTGAAGATAAAAAACACTTTGTGCATTAGGTTGCTTTGAAGATTGAATTAGCTAAATGCTTAGTATAATCCCAAGGCATGGAACATACTTATGTGCTCAATAAGTGACACATATGATTCATATATATGTAACAGTATCTAATTTAAAAACATAATAGGCCGGGCGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACAAAATCAGGAGCTTGAGACCAACCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGACATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGCGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCACTGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAAAAAAACCACATAATAGAGGCCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAGGCAGGAGGATAGCTTGAGGCCAGCCTGGGCAACATGGTGATACCCTATCTCTATGAAATAAAAATGTAAAAATTCACTGGGCATGGTAACACATGACTGCGGTCTCAGCTATTCAGGAGGCTGAGGCATGAGAATCACTTGAGCCCAGGTGGTGGAGGCTGCAGTGAGCTGTGTTCACGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACCATGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAAGGAAGGAAGAAAACATAATAGACAAATAATAGACAAACTATTTTATTCACAGTAGTGACAACATGTGAACTCTTTAAAGAAACCCTTAAAAATAAATTATGTGCCTTAAGGCCGGGCACAGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAGTCCAGCCTGG
Task1_train_3741
The gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Visceral myopathy 1
TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGTACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCCGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGG
TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGAACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCCGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGG
Task1_train_3742
Mutation context: Chromosome 2, Gene ACTG2 (actin gamma 2, smooth muscle). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGTACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCCGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGG
TGCCATTCCCTCTGCCTCGGATGCCTTTTGCAGCAGCCTCTGGAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGAACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCCGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGG
Task1_train_3743
Gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Visceral myopathy 1
GAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGTACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCCGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGGCTGTTTTACAGTCAACTTTTTATTTAATAAGTAGAAGGAGTA
GAGACCTTCTTTTGCCCTCAAGGCCCATTTAAATCCCTCAGATAATGAATTACTCCTACCTCTTCTTTCACTTAAAATGTGGCTTGTGTTTTTCTTTTTGTTTGTTTTGGTCTTTTTTAAACGTCTCTCTCCCCTCTGGACTTTGCAACTGAGAATAGGGTGCCATGTCTGATTCATATCTGCCCTCATCACACTTACCACCGTCTTAGCACAAACCTGGCGGTCCATAAATACATGGGTCCAATGGCATCAAATGACCCTGTGCCTCACCTCTGAGGAAACCAAAGCCCCATGTCCCTGCTACACTTTGCCCAATCCCTCTGAAAGACTCCTTTTTGGTCGTACTTGATCACTGAAGAAGGAACTGGACACAGGAAGAAATTAACTTCCTCTAAAACAGTGGTTCTTTTTTATTTTTGAGACAGGGTTTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCCATGATCACAGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGCGATCCTCCTGCCCCAGCCTCCTGAGTAGCTGAGATTACAGGCAGGCGCTACCATGCCTGGCTAATTTTTTATCTTTTTGTAGAGACAGGCCCACAGTGTGTTGCCCAGGCTAAGCGGTGGTTCTTAACCAGGATGATTTTGCTTCCCAAAGGACATTTGGCAATGTCTGCAGACATTTTTTATTGTCACAACTGGAAAACTGCTGCTAGCATCCAGTGGGTGGAGACCAGGGATACTGGTCGGCCCTCCACAACAAAGAATTATCCAACCTAAAATGTCATAGAGCTGCGATTGAGAAACCCTGCTTTAAAGCACCAGCCTGGCCAATAATAGCCAGTGAAAATTGAGCCCAAGTGCCTCTGTCAGATTCTCAGCAGGAGATAGTGTACACTCAGCTGCGGTTTTGAAATTGTTTGACAGTGTATACTCAGCTGGGGTTTTACAACTGGTTAAATGAATGTCCTACAGAAATGTGCATAGGGTTAAGGCAACTACAAAGGGATGTCGAGGCACCCAAGAGCCAGCAACAGAGGGAGCTCTCACACCCCTAAACATGAAGGGGTCAGGTGACGAGGGCAGTGTCATTGGAGCTTAGTGAGAGCTTGAGCTCTGAAAGAGGGGCTGCCCAACAGGAACTGTGCTCATGGAGGGCCACGCCATTGTCAGGAGATAGACCCTGACTTCTTTTGCCCTCCTACTTTCCAGCCTCTTGCAGGAATCTTCTATCAGCCAAATATAGCCAGAAGCCAGAAAGCAATGAACACTTGAGTGATACAATGTGCCTTGCATCACTCAGTGCACAAAGGCAGGGGAGAGACTGTAGGAGAGTGAAGAGGAGGGAAGGTCAAATGGAAATAATGAACACATAGAAAATACTGGTTCCAGGTCTGAGTCCTACCTGGGGCCCTGTTGAGAAGGAGTATACCCTTTAAATGTCAATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCCCATCCTGTGTAACATGGTGCCACACTCTCCCAGCATGGGAATGTCAATGAGAATTTTCCAGCCATTGGGAGTCTGCCAGGCTCATATGGCTTTTGTCTCCACTAGATCTGGCACCACTCCTTCTACAATGAGCTGCGTGTAGCACCTGAAGAGCACCCCACCCTGCTCACAGAGGCTCCCCTAAATCCCAAGGCCAACAGGGAAAAGATGACCCAGGTAAGAAGCCAGGAAGACTTGAACACTGGCATAAGAATGCAACATGGATGCTTGGCCAGATACTTTCTCCCCTTCAAACATCAGTGCAACAGAACTCTCTGAGGACCTGCTATGTCTGTGGTCCATGCCAGGCCCTGGGGGAGTGGGTGTGGAATAATGAACTATCAAACTGGCATAGTTCCTGCCCTTAATGAGATTACAAACCATTCTACAGGCCAAGAAGTGCTGTGATTTTTGCCAAATAATCTTTTATTCTTCATTGTCCTTTAAGATCATGTTTGAAACCTTCAATGTCCCTGCCATGTACGTCGCCATTCAAGCTGTGCTCTCCCTCTATGCCTCTGGCAGCACGACAGGTGAGTAATCCTGTAATCCATTCCTTTTCTGACTTCAGGGGAGGTAGGGAAAAGCTGGGGTCTGGCAGAGGCTCCTGCTCAGAAGAATCAAATGGACAGCTGAAGTCCAGGCAAAATCTTTCTTAGGGATAATAGGTGAGAATGCCCATGTGGAATGCCAGATGTGAGCCTAGCTGGTATAGTTGGAAAAAACATCCAGCAAGAACTGTTTCCCTCACAGTAATAATTCCAGGAGCTTCTACACATACACACATTCCAACAATACTGGAATGTTTCTGCTTCATGAAGCAGAAAGAGTAGAACCTGTGGTGGTGGAAATGTAAGTGCAGTTACACATTGCTTAATGACAGGGATACGTTCCGAGAAATGTGTGTCATTAGGTGACTTTGTCACTGTGGGAACATCAGAGAGTGTACTTGCACAAACCTAGACGCTGTAGCCTACTACATGCCCCGGCTGTATGGCGTGGCCTATTGCTTCCAGGCTACAGACAGTATAGCATTTAACTATAATTAATACTGTAGGGAACTGTAACAGAATGGTTAGGTATTTGTATAGCTAAACATATTGAAACATAGAAAAGTTACAGTGAAAATATAATATCAAAGATAAAAAATGGTACACCTGTGTAGGGCACTTACATGAATGGAGCTTGCAAGACTAGAAGTTGCTCTGGGTGGGTTAGTGAGTGAGTAGTGAGAAAATGTGAAGACCTAAAATGTTACTGTGTACTACTGTAGACTATAAACACTGTACACATCGGCTGTACTACATTTATAAAAATATTATTCTTGGCCAGGCACAGTGGCTCACACCTGAAATCCCAGCACTTTGTGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGACGTGGTGTCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCCCTCCAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAATATGTATATATATATATTATTCTTTCTTCAATAATAAATTAACCTTAGCTTACTGTAATGTTTTTTACCTTATAAACTTTTTAATTTTTAAAGCCATTTTTACTTTTTTTGTAGTGACAGTAATAGAAAAACATCTTTTTTCGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCACCAGGCTGGAGTGCAGTAGCGTGATCTCGGCTCATTGCAACCTCTGTCTCCCACGTTCAAACGATTCTCCTGCCTCAGCCTCCCATGACTTTTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGTGATTCTCATGCCTCAAACTCCCAAGTAGCTGGGACTACAGGAGCGTGCCACCATGCCTGGCTTATTTTTGTCTTTATTTAGTAGAGAAAAAAAAGGAGTACACCCTTTAAATGTCGATCAGAAATTTCCAGGGCTGACCATTCTCCTCTCCAGATCCATCTCATGTTGGCCAGGCTGGTCTCGAACTCCTGATCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGATCATCACCCCCAGCCAAAAATAGTTTCATTTATATCCTTTATTCTACAAGCTTTTTTCTATTAAATTTATTTTATTTTATTTTTTACTTTTAGAGCTTTTTTGATAAAAACTAAAATATACACATTAGCCTCGGCCTACACAGGTTCAGGATCATCAATACCACTGTATTTCATCTCCACATCTTGGCCCACTGGAAGGTCTTCAGGGTTAATAACATGCATGGAGCTGTCATCTCCTATGATAACAATACCTCCTTCTGGAATATCTCCGGAAGGACCTGCCTAAGGCTGTTTTACAGTCAACTTTTTATTTAATAAGTAGAAGGAGTA
Task1_train_3744
A variant affecting Chromosome 2, within the gene ACTG2 (actin gamma 2, smooth muscle), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Visceral myopathy 1
AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTG
AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGTGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTG
Task1_train_3745
Given this variant in gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTG
AAATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGTGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTG
Task1_train_3746
A mutation found in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Inborn genetic diseases
AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCACCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
Task1_train_3747
A mutation found in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Visceral myopathy 1
AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCACCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
Task1_train_3748
This is a variant in ACTG2 (actin gamma 2, smooth muscle), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Inborn genetic diseases
AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
AATACATAAGCCAGTACTAGTACCATAGTTGTTTATTATCATTTTCAAGTATGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCTCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGA
Task1_train_3749
A mutation found in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; ACTG2-related disorder
TGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCA
TGTTGTACATAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCATAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCA
Task1_train_3750
Gene ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Visceral myopathy 1
TAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATG
TAATGTATGTGCTGTACTTTTATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGACTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATG
Task1_train_3751
This is a variant in ACTG2 (actin gamma 2, smooth muscle), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Visceral myopathy 1
TATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATG
TATACAGCTGGCAGCACAGTAGGTTTGTTTACACCAGCATCACCACAAACACGTGAATAAAGCGTTGCCCTATGACGTGATGTCAGCTATGATGTCACTAGGCAATAAGAATTTTTCAGCTTCCTTATAATATTATGGCACCACCATTGTGTATGTGGTCCGAAGTTGACCAAAATGTCATTATGTGGACATGACTATATGTGGCCTTGGTATAGAAGTGTGCTCAGCGTAACAGAGGAAATCTCAAAATAAAATGGTCTTTAATAGGAACTTGACAGCTTCCATAAACATTTGTTTAAACGTTCATTAATCATTTATTCACTGATTTATCCATTCATTCATCCATCATATATTTTCCATTACTCCCTACAATGTGCCAAACATGGTACCAGGCCATGGGCACACACTGACAAATAAGACAGACTTTGTCATTATGGAGCTAACAGTTTAGTGGGAGATAGACAAAAGTAAAAGATAATTTCACTGCATGTGATAAGGACAATGATGGAGAAATGCATGGCATATACAGTGTCGTATCCTGTGCTTTGCACTTTGGTTTTTGTTTTTGTTTTCATTTTGAGATGCAGTTTCGCTCTGTTGCCAAGACTGGAATGCAATGATGTGATCTCAGCACACCACAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCGAATAGCTGGAATTACATGCACCTGCCTCTGCACCCGGCTAATTTTTGTATTTTTAGTAGCAATGGGGTTTCACCATGTTGGCCAGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCCCCTTGGCCTCCCAAAGTGCTGGCATTACAGGCATGAGCCACCGCGCCCAACCTTGCACTTCGTTGCAAACATCATGTTTAATAGCCACGTGGTAGTCGTTGTATGATGGTTTCATTATGTATTTATTTTACCATTTCTCTATTGCTGGAGCTTTAGGTTGCCTCTCATTTTTATTATACAATATGCCATGATTCAGGTCCTTACACAAGAGTAAGTTGCTGCTTTCTGGACATTTATTTTGCATCTGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAAGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATG
Task1_train_3752
A genetic alteration is present in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Visceral myopathy 1
TGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCC
TGGCCCTTACTGAACCATCTAACTAGGTCTAATGGTTTCTTAATTGATTCTGTTGGGTCTTCTGTATAAAACCACATTATCTGCAAATAATGACAATTTTGGTAGTCACACCTCCTATTTCTATTTTCTGTTTCACTGCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCTAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCC
Task1_train_3753
A variant on Chromosome 2 in gene ACTG2 (actin gamma 2, smooth muscle) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Visceral myopathy 1
GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCTGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
Task1_train_3754
Consider this mutation in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is this a benign change or a disease-causing variant?
Pathogenic; Visceral neuropathy, familial, 3, autosomal dominant
GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCTGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
Task1_train_3755
Consider this mutation in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is this a benign change or a disease-causing variant?
Pathogenic; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCTGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
Task1_train_3756
A sequence alteration has been identified in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Visceral myopathy 1
GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCTGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
Task1_train_3757
Located on Chromosome 2, this mutation impacts ACTG2 (actin gamma 2, smooth muscle). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Inborn genetic diseases
GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
GCAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCTGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATAT
Task1_train_3758
Here is a mutation in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Visceral myopathy 1
CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATATC
CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCACTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATATC
Task1_train_3759
Here is a genetic alteration in ACTG2 (actin gamma 2, smooth muscle) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Inborn genetic diseases
CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCGCTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATATC
CAATTGGCTAGAACATCCTGGACAATATTAAAAAATGGTGGTGATATTGTAATGTTTTCTCATCCGTTATGATGTGGCTGTTAGATTAAGAAATATGAGGCTGGACGCAGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGAATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCACATCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACGTAGGAGACAGAGGTTTCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCCAAAAAAAAAAAAAAAAGAATATGCAATGTAGACTTAATGCAAATTGACAAGTATGCATTACCAGTAATGTGTTTCAAGGAATACAAAAAAAGGACACATTTTACTTGCCCTCCAGAGGCCTACAGTCTCACTGGGGGGAAAAAAGTGACATACATAAAAAATAAAAAATATGATTGATGATTCTTGTGATGGGTGAATATTCTTAACTGGTAAAGGAAAATATGGTAGTCAGAGCTCATTGGTAACAGTCCTAGAAAGAGACTGATGAAAGGCAAGAATGAGAATTTTATAAGCCTGATCCTCTCTGTCCACAGGCATCGTCCTGGATTCAGGTGATGGCGTCACCCACAATGTCCCCATCTATGAAGGCTATGCCCTGCCCCATGCCATCATGCGCCTGGACTTGGCTGGCCGTGACCTCACGGACTACCTCATGAAGATCCTCACAGAGAGAGGCTATTCCTTTGTGACCACAGGTATCCAGCCCCTTTTCTGATTCTGACTGGAGCTCAGAACCAATCTGGTTTAGGACAAGAAGTTCTCAGGACCAATGAGAATTCTGTGACTCTGTGTCTTTAAACTCTCCTGAGATAGACTGAGAGGCCTTAAGCTGGGGCTAGGCCTCTGGATAAGACCAGATAGTCATGGAAGCAGTCCCTCCTTCCCCAGAGACCAGCTGCCTCTGTCCACGTCCACACCAGGACTAGGGCTAGTTTCCACAGGCTGAATGGTAGTGAAGATCTGCTGATGCATTTCATTACCTAGGGGCACCTTTGGTTTGAGGACAAATTGAATAAGTGAGGCCCGAATTTCTAAGGGGAAGGTGTCATGTGGCCCACCTGGGCAATCGGCATTTTTTAGGTGGGAGCCTCTCTAGGTTCTGTAAGATCAAACATCTGAGTCTAGACCAGAAATATGTCCTGCAAAGCCCCCAGGAAGGCCTAAGGCTTTGTCAGAAATCTCATGCAAAGTCCTGCATGGGAATCAAGACTTGAGACTCCCTCTTTAGAAAGAGGAGTGGAAGAATTAAGATTGAATGGAGTGACGCTTGACCCTCTTCGCGGCAAGTCTATCATCATCCTATGACTGAACCTAAAGTAGACGTGAGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGCAGGCAGATCACTTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTGAAAACACAAAAATTAGCCGAGCTTAGTGGCGCACGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCAAGATAGCACCACTGCACTTCAGTCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAATAAAGTAGATGTGAGAAGGAGGTTTTCATGGAGATCAAAATGGGACAACCAAACTATCAGAGCTCAGTATTCACCTTCTGTCATTTCTGCTCCTTCCAGCTGAGAGAGAAATTGTGCGAGACATCAAGGAGAAGCTGTGCTATGTGGCCCTGGATTTTGAGAATGAGATGGCCACAGCAGCTTCCTCTTCCTCCCTGGAGAAGAGCTATGAGCTGCCAGATGGGCAGGTTATCACCATTGGCAATGAGCGCTTCCACTGCCCTGAGACCCTCTTCCAGCCTTCCTTTATTGGTGAGGTGCTGCCCACAGTCCCTGCCAATCTCAGGAGGGGAGGGTGGAGGAGTGGGTGAGGTATGGAGAGAGAAACACCAGGAGTCATGGCCACTTTGTTAATTACATACACGTACCTCACATTTTCCTAGGAAGGGCCAAAAATGTATTTTAAAAAAAATTAGGGAAAAATCTCATTTTAAATAAAAGGGAAAGGAAATCAAGATACAGGAAAAGCAGAACAGGAAATATAACATGAAACTTAAGAATGAGGTTAAAACACAGAAAGTTTGTAGGCAGCAATGTAGCAAGGTCAGGTTGTAGTTTAGCAAGATTCTTCTATCTACAGTGTGGAATCATATTGCATGGATAAAAGACCGGAGGCTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGCCTGTGAGTTTGAGACCAGACTGGGCAACATAGCGAAACCCCATCTCTATGAAAAATACAAAATTTAGCAGGGCATGGTGGTGCATGCCCATGGTCCCAGATACTCAGGAGGCTGAGGTGGGAGAATCGCTTGAGCCGCAGAGATCAAGGCTGCAGTGAGCCGTGATTGTGTCACTGCACTCCAGCCTGGGCAACAGGGTGAGATTCTGTCTCAAAAAAAAAAAAAAAAAAGAGTAGAGGTAAGTAGACCAGGCAGATGGCAAGAGCCAGTTTGGCGTGCAGGACCTTTTGCTCTAGAAGACTGTGATGCCAGGCTACAGTAGCTGGATGTCAACCTGCAGGCAATGGGTGACTGTCAGATGACATGACGAGTATATCCATACAATGGAATCTTATTTGGCAATAAAAGGGAATGAAGTATTGATCCATGCTGTGACCTTGAAAACATTATACTAAGTGAAAGGAGCCACACACAGAAGACCATATGGTGTATGATTCCATTGACAAGAAACATCCAGAATAGGCAAACCTCTAAAGACAGAAAGTGGATTCACTGTTACCTAGGGCTGGGGCAGGGATGGAGGGGAAAATGGGGAGTGACCGCTATTAGGTATGGGGGTCTCTTTTGAAGGTATTTAAAATGTTCTAAAATTAGATTTTGGTGATGTTTGCTTCTGTGGATATACTGAAAATGACTGAATTATATCTCAAAAAGTTATGAAAAAAGAAAGATGATATAACAAAAGTGTTCCTTTAGAAATATGCTTCAGGCAACAGTATAAAAGATCAGGCCGGGTGTAATACCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGAGTGGATCACAAGGTCAGGAGATGGAGACCATCCTGGTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCATGTGCTTGTAATCCCAGCTACTCGGGAGGCTGAGACATGAGAATCACTTGAACCAGGGATCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCAGACTCCATCTCAGAAAAAAAAAAAAAAAAGATCAATCAGAACTGGGGACAATAAAGGAAAGGCCATGACAAGGAAGGGGGTATGATCTTATAATCCTTCTGGGAGATATTAAGGTTCTGAACTAGGGTAGTTGCAACAATCGAAGAAGGGTCATTTGAGGAGCTGGAGGTGTGCATATTTAGGAAGTGATGCCTGTTGACCAGACACTGTGATCTCCACTAGGCATGGAGTCCGCTGGAATTCATGAGACAACCTACAATTCCATCATGAAGTGTGACATTGACATCCGTAAGGACTTATATGCCAACAATGTCCTCTCTGGGGGCACCACCATGTACCCTGGCATTGCTGACAGGATGCAGAAGGAGATCACAGCCCTGGCCCCCAGCACCATGAAGATCAAGGTGGGTCTTGCCTCAGTTGTCTCCATCCTGTTCTTTGTATAAAGTCTTGCCTACCTGGGAGTTCCTCGGAGGCAGACTGCCAGACCTGATAACTTGCTGGTCTCCTGGGTTCAATATC
Task1_train_3760
Consider a variant on Chromosome 2 in gene DGUOK (deoxyguanosine kinase). Determine its clinical classification and disease relevance.
Pathogenic; not provided
CAGGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATTGGTTGCAGGAGGGGACCAATCAGAGGCTGAAGTAAAGTTATGAAGTTATACCCCATGCAACTAAAGACTTGGCCTGCCACCAGCCTGACTGATTGCCCGCGGGGACCAGTCAGAGGTACTTTCAATTTTTTATCTGCCACCCAGAAGAGGGATTAGCTTCTGGTCCTTTTGTTACTTGGGCTAGAAAGTTGGGGTTTTCCTTTTGATTTAGTTCTAGGAAGTCAGCCTAAATCGGCCTTAGGTTCCCTGTCTCCAGACCCTATTTTCCTGCCTCGTAGCTTTTAGGAGATTAATGCCTGCCTGCAGACAACTTCCTCATTTAACTTTCACAACACCCCTGAGGCAGCAAGATCCTGGCGAGGCAGAGAGCCTCTCAAGCTTTTTTGGATGAATATTTTCCAAGTCTGAGTTTACATAGGTAAAGAAATGTAAGCAGTTTTTTTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAACAGAAGTGGCTGCTGGAGTGGAGATGGGAATGGGTAGGACTTTAGCCGCTCCAGTAGCCATTAACGCCCCACCCTGGTTATCCTTAAAAAATTCGATTAAAAAAAAAGTTCTTAATATATAAACATGACCTCAGCCATCCTATATATACATCAACATAAGAAAAAGGTCCCGTGCTTTTTATGGGAACAGCTTCAAGACAGGTATCCCAGCCCCCGGCCCCTCCCCAGCCCCCTTGCAATCAGATCCTTGTCTTCTAAAACCTGCCACACCTAAGAGCGCTGCCTGAAGGCCGGTTTGGCCTGTTGACTCCTGGTTTTGACTGTTGGTGATTTAAGCGATTGGAACTGGAAGCACCATTTGACAACATTTTGTAAATCATTACTTCTGAGGTTGTTATGACGACGGGGTGTGGCAGTCCGGCTTCACCTGTGGCAGCAGCTTAGGTCCCTGCCCTCCTGCAGAGCACACTTCACCGACAGCAGGACTCAGGTTTTATACAAGTCTCTACTCGCCATTGCTTACGTCCAAGAACCCAGCCTACCAGGTTTAAACAATTTCCAGTCACATACCTGAGCCACCACCACCTTATCCTGAAGGGATTTTTGGGTATAATGCAAATCGATTGACCGAACATTTATTTACTTATTCAAGACACAAACTAAGAGATGGGGTGTAACTGATTATCTAATTTGTTAATTTAGTCAATAATATGCCAGCATTGTGCAGGGGAATTACAGGGAATAGGAAAAAGTTAAATTTGTGTAAATCATCAGATTGAGTCATTTTCCTACTTTAAAACTTCCATTTTCTTCCGATATTAAAATAAAAACCAGACAACAAGCACCTGGGGGGGGGGAAATCCCCTCTTAAAATTACAATTTCTATTTTTAATTTTGTCTTCAGTTATAAAATTTATTTTAAAGTTATACAAAAATGAAGTGGTTGGATTGTGGAATTACGTCTTTTAAAATGTTATTTGTCCAATGAACAAAAACCACTCGCACCGCAACTCCTTTTACTATCAAATTCTGCACCGTTGCAAAACTTCCTTCACTCAACGCTTCTTTACAAACATCGCGATAGCGGAGCGGTCTCTTGGGCGCACCCCGCCGCATGTTCAACCCCACCCACTTCCTGTCTGACGATCTCCTTACGTCAACGGTGCGCTGGAGCGAGTGAGCAGCGATACCTAGGGCGGAAGTGCTCTCGGCGGAAGTGATCGCTGTGTGAATCGTGGGTGGGATGGCCGCGGGCCGCCTCTTTCTAAGTCGGCTTCGAGCACCCTTCAGTTCCATGGCCAAGAGCCCACTCGAGGGCGTTTCCTCCTCCAGAGGCCTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGGCAACATTGGTAAGGGCCGGAAAGCGGCTGCCAAGCCTTGGCCTCCGCCACGCAGGCGACAGAGGCTGGGAAAGGAGCTGGGCCCGGAATGGCCTGCGTCTGATGCGGCCGGCCTCTTTTTCTGGGCTGCGAGGAGAGCCTTTCCCCTCGCAAAGTGCACTGTGTATCTTTGCCTCCTTGTTTTTAGGATATCGGGCCTCAGTACCCGCCCACAGGAACATATTTGTTGGGGCATAAAAGCCACGCAGTTAGTGGATAGGACAAGAATTGTATTAGCTGTTTGTAATAGATCGAAATTGAAGCGACAAGCGGGTGCAGTTTATTTGTTCTCCTAGATAGGGTTGCCATATTTAGCAGAAATTAAAAATAATATCCAGTTAAAATAGAATTTAAGATAACGAATAATTTTTAGTGTGTGTCCAATGCAATATTTGGGACATCCTTACAGCAAAACAACAACGAAATCACTCATTGAAAGTTCAAATTTAACTGTGTCCTGTATTTTATCTGGCAACCCTATTCGAAGAGAGTTCCTAAATTTCAGTCGTTCAAATACCACATTCACAATTTTTGCCCTGTGCCTGTGCTAGTTGCATAATAATTTCTTAAGGCTTTTCTTAGAAGAACCTCACTTTTTAAACTTAAAAACATGTATTAAATTAAAAATTATTTTGTTAAAAGAGTGAGATCCAGTATCTTGAATAAAAAGTAGTCAGAAAGCAAAATGAAGGCAAAGCATTTCGATTTAATATTAATAAATTCTGACTTGATACTTTTATCTACCAAGTCACTGAGCCCCTAAAAGGGGCTTAGCAAGTGTTGAGTACTGAAGACGTAGCAGCAAACTGAGAATTTCTTTTTTTATTCATTCAACAAATCACCTTTTGAGCCACTTCCATATGCCAGCACTGTTCTTGGCCTGGAGAATACAGCTGTGAATAGAACAAATAAAAATCTCTGCTCTCATGGAACTCAAGTAGGGAGAGATGGACAATAAACAACATAAATTAAGCAAGGTGAACAATATGTTAGAGAGTAATAAGTATGATGGAGAAAAATTAGGGATGAAGAATTGAGGGAAGTTTTTATTTTATTTTATTTGAGATGGAGTTTTGCTCTTGTTACCCAGGCTGGAGTGCAATGACACGATCTCGACTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTAGGGGCACCCGCCACCACACCCAGTTAATTTTTGTTTTGTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTTAGCCACTGCACCTGGCCGAAGTTGTCATTTTAAATAAAATAAGCAAGGCCTCACTGAGAAGGTGACATCTGAGCAAAAAACTGAAGATGAGGGAGCAAATCACGTGGATACCTGGGAGAAGAATCTTCTAGGCAGAGTGAAGAGCAATTGGAAAGGCCCTGAGGTGGAAAGTGTGTTCGGGGAATAGGAGGGAAATCGTTGTGACTGAAGTCGAGTGAGCAAGGATGGGAGGGAAATTAGGGCAAAAGCCCAAGGGGTGGCCAGATTTTATAGGCCTTATCATGGGTTTTTAATCTTACCGAGATGGGTAGCCATTGGAAGGTTTGAGGAGTCAAGTGACAGTTTTACTTAGATTATAAAAAGATCACTGTGGCTGATAACATTGAAAGTGAAGAGTGTTAAGTGGTATTGCAATAATTATAGTATTGTGAAAAGTGAAAGTGGTGAGACGTGATTGGATTCTAGTTATACGTTAACAAAAATTGAGTTACATTTTAAGTAAAATTTAACAGTGGAAGTGGTGAGAAATGATTGGGTTCTAGTTATAT
CAGGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATTGGTTGCAGGAGGGGACCAATCAGAGGCTGAAGTAAAGTTATGAAGTTATACCCCATGCAACTAAAGACTTGGCCTGCCACCAGCCTGACTGATTGCCCGCGGGGACCAGTCAGAGGTACTTTCAATTTTTTATCTGCCACCCAGAAGAGGGATTAGCTTCTGGTCCTTTTGTTACTTGGGCTAGAAAGTTGGGGTTTTCCTTTTGATTTAGTTCTAGGAAGTCAGCCTAAATCGGCCTTAGGTTCCCTGTCTCCAGACCCTATTTTCCTGCCTCGTAGCTTTTAGGAGATTAATGCCTGCCTGCAGACAACTTCCTCATTTAACTTTCACAACACCCCTGAGGCAGCAAGATCCTGGCGAGGCAGAGAGCCTCTCAAGCTTTTTTGGATGAATATTTTCCAAGTCTGAGTTTACATAGGTAAAGAAATGTAAGCAGTTTTTTTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAACAGAAGTGGCTGCTGGAGTGGAGATGGGAATGGGTAGGACTTTAGCCGCTCCAGTAGCCATTAACGCCCCACCCTGGTTATCCTTAAAAAATTCGATTAAAAAAAAAGTTCTTAATATATAAACATGACCTCAGCCATCCTATATATACATCAACATAAGAAAAAGGTCCCGTGCTTTTTATGGGAACAGCTTCAAGACAGGTATCCCAGCCCCCGGCCCCTCCCCAGCCCCCTTGCAATCAGATCCTTGTCTTCTAAAACCTGCCACACCTAAGAGCGCTGCCTGAAGGCCGGTTTGGCCTGTTGACTCCTGGTTTTGACTGTTGGTGATTTAAGCGATTGGAACTGGAAGCACCATTTGACAACATTTTGTAAATCATTACTTCTGAGGTTGTTATGACGACGGGGTGTGGCAGTCCGGCTTCACCTGTGGCAGCAGCTTAGGTCCCTGCCCTCCTGCAGAGCACACTTCACCGACAGCAGGACTCAGGTTTTATACAAGTCTCTACTCGCCATTGCTTACGTCCAAGAACCCAGCCTACCAGGTTTAAACAATTTCCAGTCACATACCTGAGCCACCACCACCTTATCCTGAAGGGATTTTTGGGTATAATGCAAATCGATTGACCGAACATTTATTTACTTATTCAAGACACAAACTAAGAGATGGGGTGTAACTGATTATCTAATTTGTTAATTTAGTCAATAATATGCCAGCATTGTGCAGGGGAATTACAGGGAATAGGAAAAAGTTAAATTTGTGTAAATCATCAGATTGAGTCATTTTCCTACTTTAAAACTTCCATTTTCTTCCGATATTAAAATAAAAACCAGACAACAAGCACCTGGGGGGGGGGAAATCCCCTCTTAAAATTACAATTTCTATTTTTAATTTTGTCTTCAGTTATAAAATTTATTTTAAAGTTATACAAAAATGAAGTGGTTGGATTGTGGAATTACGTCTTTTAAAATGTTATTTGTCCAATGAACAAAAACCACTCGCACCGCAACTCCTTTTACTATCAAATTCTGCACCGTTGCAAAACTTCCTTCACTCAACGCTTCTTTACAAACATCGCGATAGCGGAGCGGTCTCTTGGGCGCACCCCGCCGCATGTTCAACCCCACCCACTTCCTGTCTGACGATCTCCTTACGTCAACGGTGCGCTGGAGCGAGTGAGCAGCGATACCTAGGGCGGAAGTGCTCTCGGCGGAAGTGATCGCTGTGTGAATCGTGGGTGGGGTGGCCGCGGGCCGCCTCTTTCTAAGTCGGCTTCGAGCACCCTTCAGTTCCATGGCCAAGAGCCCACTCGAGGGCGTTTCCTCCTCCAGAGGCCTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGGCAACATTGGTAAGGGCCGGAAAGCGGCTGCCAAGCCTTGGCCTCCGCCACGCAGGCGACAGAGGCTGGGAAAGGAGCTGGGCCCGGAATGGCCTGCGTCTGATGCGGCCGGCCTCTTTTTCTGGGCTGCGAGGAGAGCCTTTCCCCTCGCAAAGTGCACTGTGTATCTTTGCCTCCTTGTTTTTAGGATATCGGGCCTCAGTACCCGCCCACAGGAACATATTTGTTGGGGCATAAAAGCCACGCAGTTAGTGGATAGGACAAGAATTGTATTAGCTGTTTGTAATAGATCGAAATTGAAGCGACAAGCGGGTGCAGTTTATTTGTTCTCCTAGATAGGGTTGCCATATTTAGCAGAAATTAAAAATAATATCCAGTTAAAATAGAATTTAAGATAACGAATAATTTTTAGTGTGTGTCCAATGCAATATTTGGGACATCCTTACAGCAAAACAACAACGAAATCACTCATTGAAAGTTCAAATTTAACTGTGTCCTGTATTTTATCTGGCAACCCTATTCGAAGAGAGTTCCTAAATTTCAGTCGTTCAAATACCACATTCACAATTTTTGCCCTGTGCCTGTGCTAGTTGCATAATAATTTCTTAAGGCTTTTCTTAGAAGAACCTCACTTTTTAAACTTAAAAACATGTATTAAATTAAAAATTATTTTGTTAAAAGAGTGAGATCCAGTATCTTGAATAAAAAGTAGTCAGAAAGCAAAATGAAGGCAAAGCATTTCGATTTAATATTAATAAATTCTGACTTGATACTTTTATCTACCAAGTCACTGAGCCCCTAAAAGGGGCTTAGCAAGTGTTGAGTACTGAAGACGTAGCAGCAAACTGAGAATTTCTTTTTTTATTCATTCAACAAATCACCTTTTGAGCCACTTCCATATGCCAGCACTGTTCTTGGCCTGGAGAATACAGCTGTGAATAGAACAAATAAAAATCTCTGCTCTCATGGAACTCAAGTAGGGAGAGATGGACAATAAACAACATAAATTAAGCAAGGTGAACAATATGTTAGAGAGTAATAAGTATGATGGAGAAAAATTAGGGATGAAGAATTGAGGGAAGTTTTTATTTTATTTTATTTGAGATGGAGTTTTGCTCTTGTTACCCAGGCTGGAGTGCAATGACACGATCTCGACTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTAGGGGCACCCGCCACCACACCCAGTTAATTTTTGTTTTGTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTTAGCCACTGCACCTGGCCGAAGTTGTCATTTTAAATAAAATAAGCAAGGCCTCACTGAGAAGGTGACATCTGAGCAAAAAACTGAAGATGAGGGAGCAAATCACGTGGATACCTGGGAGAAGAATCTTCTAGGCAGAGTGAAGAGCAATTGGAAAGGCCCTGAGGTGGAAAGTGTGTTCGGGGAATAGGAGGGAAATCGTTGTGACTGAAGTCGAGTGAGCAAGGATGGGAGGGAAATTAGGGCAAAAGCCCAAGGGGTGGCCAGATTTTATAGGCCTTATCATGGGTTTTTAATCTTACCGAGATGGGTAGCCATTGGAAGGTTTGAGGAGTCAAGTGACAGTTTTACTTAGATTATAAAAAGATCACTGTGGCTGATAACATTGAAAGTGAAGAGTGTTAAGTGGTATTGCAATAATTATAGTATTGTGAAAAGTGAAAGTGGTGAGACGTGATTGGATTCTAGTTATACGTTAACAAAAATTGAGTTACATTTTAAGTAAAATTTAACAGTGGAAGTGGTGAGAAATGATTGGGTTCTAGTTATAT
Task1_train_3761
A mutation in DGUOK, LOC129934096 (deoxyguanosine kinase| ATAC-STARR-seq lymphoblastoid active region 16036), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; not provided
GGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATTGGTTGCAGGAGGGGACCAATCAGAGGCTGAAGTAAAGTTATGAAGTTATACCCCATGCAACTAAAGACTTGGCCTGCCACCAGCCTGACTGATTGCCCGCGGGGACCAGTCAGAGGTACTTTCAATTTTTTATCTGCCACCCAGAAGAGGGATTAGCTTCTGGTCCTTTTGTTACTTGGGCTAGAAAGTTGGGGTTTTCCTTTTGATTTAGTTCTAGGAAGTCAGCCTAAATCGGCCTTAGGTTCCCTGTCTCCAGACCCTATTTTCCTGCCTCGTAGCTTTTAGGAGATTAATGCCTGCCTGCAGACAACTTCCTCATTTAACTTTCACAACACCCCTGAGGCAGCAAGATCCTGGCGAGGCAGAGAGCCTCTCAAGCTTTTTTGGATGAATATTTTCCAAGTCTGAGTTTACATAGGTAAAGAAATGTAAGCAGTTTTTTTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAACAGAAGTGGCTGCTGGAGTGGAGATGGGAATGGGTAGGACTTTAGCCGCTCCAGTAGCCATTAACGCCCCACCCTGGTTATCCTTAAAAAATTCGATTAAAAAAAAAGTTCTTAATATATAAACATGACCTCAGCCATCCTATATATACATCAACATAAGAAAAAGGTCCCGTGCTTTTTATGGGAACAGCTTCAAGACAGGTATCCCAGCCCCCGGCCCCTCCCCAGCCCCCTTGCAATCAGATCCTTGTCTTCTAAAACCTGCCACACCTAAGAGCGCTGCCTGAAGGCCGGTTTGGCCTGTTGACTCCTGGTTTTGACTGTTGGTGATTTAAGCGATTGGAACTGGAAGCACCATTTGACAACATTTTGTAAATCATTACTTCTGAGGTTGTTATGACGACGGGGTGTGGCAGTCCGGCTTCACCTGTGGCAGCAGCTTAGGTCCCTGCCCTCCTGCAGAGCACACTTCACCGACAGCAGGACTCAGGTTTTATACAAGTCTCTACTCGCCATTGCTTACGTCCAAGAACCCAGCCTACCAGGTTTAAACAATTTCCAGTCACATACCTGAGCCACCACCACCTTATCCTGAAGGGATTTTTGGGTATAATGCAAATCGATTGACCGAACATTTATTTACTTATTCAAGACACAAACTAAGAGATGGGGTGTAACTGATTATCTAATTTGTTAATTTAGTCAATAATATGCCAGCATTGTGCAGGGGAATTACAGGGAATAGGAAAAAGTTAAATTTGTGTAAATCATCAGATTGAGTCATTTTCCTACTTTAAAACTTCCATTTTCTTCCGATATTAAAATAAAAACCAGACAACAAGCACCTGGGGGGGGGGAAATCCCCTCTTAAAATTACAATTTCTATTTTTAATTTTGTCTTCAGTTATAAAATTTATTTTAAAGTTATACAAAAATGAAGTGGTTGGATTGTGGAATTACGTCTTTTAAAATGTTATTTGTCCAATGAACAAAAACCACTCGCACCGCAACTCCTTTTACTATCAAATTCTGCACCGTTGCAAAACTTCCTTCACTCAACGCTTCTTTACAAACATCGCGATAGCGGAGCGGTCTCTTGGGCGCACCCCGCCGCATGTTCAACCCCACCCACTTCCTGTCTGACGATCTCCTTACGTCAACGGTGCGCTGGAGCGAGTGAGCAGCGATACCTAGGGCGGAAGTGCTCTCGGCGGAAGTGATCGCTGTGTGAATCGTGGGTGGGATGGCCGCGGGCCGCCTCTTTCTAAGTCGGCTTCGAGCACCCTTCAGTTCCATGGCCAAGAGCCCACTCGAGGGCGTTTCCTCCTCCAGAGGCCTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGGCAACATTGGTAAGGGCCGGAAAGCGGCTGCCAAGCCTTGGCCTCCGCCACGCAGGCGACAGAGGCTGGGAAAGGAGCTGGGCCCGGAATGGCCTGCGTCTGATGCGGCCGGCCTCTTTTTCTGGGCTGCGAGGAGAGCCTTTCCCCTCGCAAAGTGCACTGTGTATCTTTGCCTCCTTGTTTTTAGGATATCGGGCCTCAGTACCCGCCCACAGGAACATATTTGTTGGGGCATAAAAGCCACGCAGTTAGTGGATAGGACAAGAATTGTATTAGCTGTTTGTAATAGATCGAAATTGAAGCGACAAGCGGGTGCAGTTTATTTGTTCTCCTAGATAGGGTTGCCATATTTAGCAGAAATTAAAAATAATATCCAGTTAAAATAGAATTTAAGATAACGAATAATTTTTAGTGTGTGTCCAATGCAATATTTGGGACATCCTTACAGCAAAACAACAACGAAATCACTCATTGAAAGTTCAAATTTAACTGTGTCCTGTATTTTATCTGGCAACCCTATTCGAAGAGAGTTCCTAAATTTCAGTCGTTCAAATACCACATTCACAATTTTTGCCCTGTGCCTGTGCTAGTTGCATAATAATTTCTTAAGGCTTTTCTTAGAAGAACCTCACTTTTTAAACTTAAAAACATGTATTAAATTAAAAATTATTTTGTTAAAAGAGTGAGATCCAGTATCTTGAATAAAAAGTAGTCAGAAAGCAAAATGAAGGCAAAGCATTTCGATTTAATATTAATAAATTCTGACTTGATACTTTTATCTACCAAGTCACTGAGCCCCTAAAAGGGGCTTAGCAAGTGTTGAGTACTGAAGACGTAGCAGCAAACTGAGAATTTCTTTTTTTATTCATTCAACAAATCACCTTTTGAGCCACTTCCATATGCCAGCACTGTTCTTGGCCTGGAGAATACAGCTGTGAATAGAACAAATAAAAATCTCTGCTCTCATGGAACTCAAGTAGGGAGAGATGGACAATAAACAACATAAATTAAGCAAGGTGAACAATATGTTAGAGAGTAATAAGTATGATGGAGAAAAATTAGGGATGAAGAATTGAGGGAAGTTTTTATTTTATTTTATTTGAGATGGAGTTTTGCTCTTGTTACCCAGGCTGGAGTGCAATGACACGATCTCGACTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTAGGGGCACCCGCCACCACACCCAGTTAATTTTTGTTTTGTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTTAGCCACTGCACCTGGCCGAAGTTGTCATTTTAAATAAAATAAGCAAGGCCTCACTGAGAAGGTGACATCTGAGCAAAAAACTGAAGATGAGGGAGCAAATCACGTGGATACCTGGGAGAAGAATCTTCTAGGCAGAGTGAAGAGCAATTGGAAAGGCCCTGAGGTGGAAAGTGTGTTCGGGGAATAGGAGGGAAATCGTTGTGACTGAAGTCGAGTGAGCAAGGATGGGAGGGAAATTAGGGCAAAAGCCCAAGGGGTGGCCAGATTTTATAGGCCTTATCATGGGTTTTTAATCTTACCGAGATGGGTAGCCATTGGAAGGTTTGAGGAGTCAAGTGACAGTTTTACTTAGATTATAAAAAGATCACTGTGGCTGATAACATTGAAAGTGAAGAGTGTTAAGTGGTATTGCAATAATTATAGTATTGTGAAAAGTGAAAGTGGTGAGACGTGATTGGATTCTAGTTATACGTTAACAAAAATTGAGTTACATTTTAAGTAAAATTTAACAGTGGAAGTGGTGAGAAATGATTGGGTTCTAGTTATATTT
GGCGTGAGCCACCGCGCCAGGCCACTTCACCATAAAATTTTTAAAAATAATTTTTAGGAGCTCTGTTACTGGTGGAGGGTGCCCAGGTTCTTGACATTTTGAACAAAGAATTGGACAAAACGTACAAAGCAAGGAAACAATGAAGCAACAAAAGCACAGATTTATTGTACATCAAAGAACACTCCTTGCGGTAGGAAGGGCCCAAGCAAGCAGCAATTACAGAATTTTCTGGGGTTTAAATACCTTCTAGAGGTTTCCCATTGGTTACCTGGTGTACACCCTATGTAAATGAAGTAGTGGCCAGCGATCAGTCTGATTGGTTGCAGGAGGGGACCAATCAGAGGCTGAAGTAAAGTTATGAAGTTATACCCCATGCAACTAAAGACTTGGCCTGCCACCAGCCTGACTGATTGCCCGCGGGGACCAGTCAGAGGTACTTTCAATTTTTTATCTGCCACCCAGAAGAGGGATTAGCTTCTGGTCCTTTTGTTACTTGGGCTAGAAAGTTGGGGTTTTCCTTTTGATTTAGTTCTAGGAAGTCAGCCTAAATCGGCCTTAGGTTCCCTGTCTCCAGACCCTATTTTCCTGCCTCGTAGCTTTTAGGAGATTAATGCCTGCCTGCAGACAACTTCCTCATTTAACTTTCACAACACCCCTGAGGCAGCAAGATCCTGGCGAGGCAGAGAGCCTCTCAAGCTTTTTTGGATGAATATTTTCCAAGTCTGAGTTTACATAGGTAAAGAAATGTAAGCAGTTTTTTTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTAACAGAAGTGGCTGCTGGAGTGGAGATGGGAATGGGTAGGACTTTAGCCGCTCCAGTAGCCATTAACGCCCCACCCTGGTTATCCTTAAAAAATTCGATTAAAAAAAAAGTTCTTAATATATAAACATGACCTCAGCCATCCTATATATACATCAACATAAGAAAAAGGTCCCGTGCTTTTTATGGGAACAGCTTCAAGACAGGTATCCCAGCCCCCGGCCCCTCCCCAGCCCCCTTGCAATCAGATCCTTGTCTTCTAAAACCTGCCACACCTAAGAGCGCTGCCTGAAGGCCGGTTTGGCCTGTTGACTCCTGGTTTTGACTGTTGGTGATTTAAGCGATTGGAACTGGAAGCACCATTTGACAACATTTTGTAAATCATTACTTCTGAGGTTGTTATGACGACGGGGTGTGGCAGTCCGGCTTCACCTGTGGCAGCAGCTTAGGTCCCTGCCCTCCTGCAGAGCACACTTCACCGACAGCAGGACTCAGGTTTTATACAAGTCTCTACTCGCCATTGCTTACGTCCAAGAACCCAGCCTACCAGGTTTAAACAATTTCCAGTCACATACCTGAGCCACCACCACCTTATCCTGAAGGGATTTTTGGGTATAATGCAAATCGATTGACCGAACATTTATTTACTTATTCAAGACACAAACTAAGAGATGGGGTGTAACTGATTATCTAATTTGTTAATTTAGTCAATAATATGCCAGCATTGTGCAGGGGAATTACAGGGAATAGGAAAAAGTTAAATTTGTGTAAATCATCAGATTGAGTCATTTTCCTACTTTAAAACTTCCATTTTCTTCCGATATTAAAATAAAAACCAGACAACAAGCACCTGGGGGGGGGGAAATCCCCTCTTAAAATTACAATTTCTATTTTTAATTTTGTCTTCAGTTATAAAATTTATTTTAAAGTTATACAAAAATGAAGTGGTTGGATTGTGGAATTACGTCTTTTAAAATGTTATTTGTCCAATGAACAAAAACCACTCGCACCGCAACTCCTTTTACTATCAAATTCTGCACCGTTGCAAAACTTCCTTCACTCAACGCTTCTTTACAAACATCGCGATAGCGGAGCGGTCTCTTGGGCGCACCCCGCCGCATGTTCAACCCCACCCACTTCCTGTCTGACGATCTCCTTACGTCAACGGTGCGCTGGAGCGAGTGAGCAGCGATACCTAGGGCGGAAGTGCTCTCGGCGGAAGTGATCGCTGTGTGAATCGTGGGTGGGATAGCCGCGGGCCGCCTCTTTCTAAGTCGGCTTCGAGCACCCTTCAGTTCCATGGCCAAGAGCCCACTCGAGGGCGTTTCCTCCTCCAGAGGCCTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGGCAACATTGGTAAGGGCCGGAAAGCGGCTGCCAAGCCTTGGCCTCCGCCACGCAGGCGACAGAGGCTGGGAAAGGAGCTGGGCCCGGAATGGCCTGCGTCTGATGCGGCCGGCCTCTTTTTCTGGGCTGCGAGGAGAGCCTTTCCCCTCGCAAAGTGCACTGTGTATCTTTGCCTCCTTGTTTTTAGGATATCGGGCCTCAGTACCCGCCCACAGGAACATATTTGTTGGGGCATAAAAGCCACGCAGTTAGTGGATAGGACAAGAATTGTATTAGCTGTTTGTAATAGATCGAAATTGAAGCGACAAGCGGGTGCAGTTTATTTGTTCTCCTAGATAGGGTTGCCATATTTAGCAGAAATTAAAAATAATATCCAGTTAAAATAGAATTTAAGATAACGAATAATTTTTAGTGTGTGTCCAATGCAATATTTGGGACATCCTTACAGCAAAACAACAACGAAATCACTCATTGAAAGTTCAAATTTAACTGTGTCCTGTATTTTATCTGGCAACCCTATTCGAAGAGAGTTCCTAAATTTCAGTCGTTCAAATACCACATTCACAATTTTTGCCCTGTGCCTGTGCTAGTTGCATAATAATTTCTTAAGGCTTTTCTTAGAAGAACCTCACTTTTTAAACTTAAAAACATGTATTAAATTAAAAATTATTTTGTTAAAAGAGTGAGATCCAGTATCTTGAATAAAAAGTAGTCAGAAAGCAAAATGAAGGCAAAGCATTTCGATTTAATATTAATAAATTCTGACTTGATACTTTTATCTACCAAGTCACTGAGCCCCTAAAAGGGGCTTAGCAAGTGTTGAGTACTGAAGACGTAGCAGCAAACTGAGAATTTCTTTTTTTATTCATTCAACAAATCACCTTTTGAGCCACTTCCATATGCCAGCACTGTTCTTGGCCTGGAGAATACAGCTGTGAATAGAACAAATAAAAATCTCTGCTCTCATGGAACTCAAGTAGGGAGAGATGGACAATAAACAACATAAATTAAGCAAGGTGAACAATATGTTAGAGAGTAATAAGTATGATGGAGAAAAATTAGGGATGAAGAATTGAGGGAAGTTTTTATTTTATTTTATTTGAGATGGAGTTTTGCTCTTGTTACCCAGGCTGGAGTGCAATGACACGATCTCGACTCACTGCAACCTCTGCCTCCCTGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTAGGGGCACCCGCCACCACACCCAGTTAATTTTTGTTTTGTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTTAGCCACTGCACCTGGCCGAAGTTGTCATTTTAAATAAAATAAGCAAGGCCTCACTGAGAAGGTGACATCTGAGCAAAAAACTGAAGATGAGGGAGCAAATCACGTGGATACCTGGGAGAAGAATCTTCTAGGCAGAGTGAAGAGCAATTGGAAAGGCCCTGAGGTGGAAAGTGTGTTCGGGGAATAGGAGGGAAATCGTTGTGACTGAAGTCGAGTGAGCAAGGATGGGAGGGAAATTAGGGCAAAAGCCCAAGGGGTGGCCAGATTTTATAGGCCTTATCATGGGTTTTTAATCTTACCGAGATGGGTAGCCATTGGAAGGTTTGAGGAGTCAAGTGACAGTTTTACTTAGATTATAAAAAGATCACTGTGGCTGATAACATTGAAAGTGAAGAGTGTTAAGTGGTATTGCAATAATTATAGTATTGTGAAAAGTGAAAGTGGTGAGACGTGATTGGATTCTAGTTATACGTTAACAAAAATTGAGTTACATTTTAAGTAAAATTTAACAGTGGAAGTGGTGAGAAATGATTGGGTTCTAGTTATATTT
Task1_train_3762
An alteration has been detected in DGUOK (deoxyguanosine kinase) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
GCTGCTCCCAACCATCTCTAGTGACACCACAGAGACTACAGGAGACACAAATTTGTCCTCCTACTTCTACCTCCAGCTCTTAGTCAGGGGCCACGTGTGAGGCTGGTATGTGTGGGCTTGCGGGGTCAGAAGGAGGGAAATCCCGAAAATACCTCTGAGTTAAATGCTTTTCTGGTCCACTCTGCTCTATATGTGTTGTTTCTGCTGAAGCCTTTCAAAGGGCTAAGACCCTTCTTTGGAATCTAATAGTGCTATTTTGCCAAATTGGACTTCTTACTGTTGTTGAATCTTTTTTCTCCTTCTGTCCTGTTGTCTCTACCTGAAGTACAATCTTCTTAATCTCCATTTCCATCTGTGAGAATTCTACTCATCAGTTACTTCCCAGCTTAATGCCACTTTCTTTCAGAAACTCCCTGAGATTCCTTCCACCATCAGTAATCGTCCCTTCATCACATGTTCTGCCTTACATTCCAGCTTCGTACATCCTCATCACCCTCTTCCTTTTTGCACTGTGAGCTCTTTGAGTTCAGGAACTGTCTTGTTCACCTTTAGATGGAGGGTGTTGGAATGATGAGGTTAGAGGAAGCCAGGTTTGAGTCCCTTCAACATTTACTCGCCATGAAACCTTGCACAAGTAAGTTACTTAACCTCTGAGTGGATTTTCCCCTCTGGAAAATGGGCATTACAACAGTACCTACCTCATGAAGCTGTTTTGAAGATTAATTGAGGTAACATACCACAGTAAAGGTTGAAATAAATGTTAATTCCTTTTTCTATACCCTTACGGTACCCTGCCCATGTAGCGCCTCATCCACACAGGCCTTCAGTGATTGGTGATTGAATAAAAAATACAGATCCAAAGTGCTTTTGTACAAAATTCACTTTTGCATTGTTGAGTCAATGGCAGATCCAGAAAAGAATCTGGGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGACAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTTGTCGTGGTGGCGGGTGCCTGTGATCCCAGCCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACTCGGCTGGGGTGGGGAGGAGGGCGGAGGTTGCAGTGAGCCGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATCCGGGGCTGCTGAACATCCCACACTTGTGCCCACTTGCACATGCCGAGTAAGTGGAACGTTTTAATTATGTTTCATAAAGTCTCTAGAATTAAGTAGGGTTTTGTTTTAACAAACAAATTGTACTCCTTATATGAAAGATAAAATTCTATTTGGTGGTTGATTGGTTGGATTTTCAAATAAGCAGTTGCTTTCTGGTTTGCCTTGACATTTTATAAACATAACTACAGATGGAAGCTCAAAAGAGAGGCAACATAGTGTTATAGTGGAAAGATTTGATTCAGAGTTAAATTTTAGATGGTTGTTGACTGTTAACTCCTCCCCAGACAGACTTCACAAATCCCTCAATCAGTGATCGTGTTAATTCTATATATGGTTCTTCCTCTGCTTTTGTTATATTGAAGTGGCATGTCATCTCCCTTTAGAGAGTCTTATTTAATAGGTAGGAAAATCTCATACCTGATTATGAAATTTTGACTAAGCTGGGGATCTGATTCTACCTTTTTGGTGGAAGGAAACTTTTGTAATTTCTTCTTTCATTGATTATTAAACCTGTTTGGGGAGGTAGGGGTGTGTGTGGAGGGGTGTACCCCATGGAGTAAATATGCTTTCTAGGAAATTTTCTTCTTTTTTTCATCTCCCTCTAGGCCTGCACTGCCCAAAGTCTTGGAAACTTGCTGGATATGATGTACCGGGAGCCAGCACGATGGTCCTACACATTCCAGACATTTTCCTTTTTGAGCCGCCTGAAAGTACAGCTGGAGCCCTTCCCTGAGAAACTCTTACAGGCCAGGAAGCCAGTACAGATCTTTGAGAGGTCTGTGTACAGTGACAGGTAAAATGCCAAGCCCTCCACCAGTCACAAGCCCCATGCTCAGTGCTGCCTGTTTGATCTTGCACAGATCCTGCACTGCTATGGTCACTGATGATTATAATTTGAAAAATTATCTTCTTTTTTAAAGACAACACTATACAGATTTGTCCAGAGTTGTACTTCTACCAGATTGTCATCTATGTCAAGAAAGGAAATTGGGTTTTTCATCAACTGAATGCTTTGAATTTCTTACATTGCTACTGATTACCTTATGTTTCCTTATTTTCTGGCATGGAGCAAGCTGGTAGCCACCTAATGTAACCATCACATGCTAAAAGGCACATAATAGACACTTAAGTAGCAGTGTATATTCTAAGAAATCAGATGATTCAGTGGTTGATTATCCCCTTTAAGAAAAAAGCAGACGAAATTAAAATTTGTGTTCCTGAAAATGATATAAGAGATATTTTCAGCCTTTTTTTTTTATTGTTCAAGAAAGGATGCTTAGGCAGAAATAGCACATCTGAGAAACTGGCTTCTGTCTCAGATTTAGCCCTTTTTGACCCCTTCTTCTGTGAGAGGGCTTTTTGCTGGCCAGAGTCTAGTGGACATCAGTGCCTGTGTCAGATCAGGGATGGGCATCATCCTGACCACCTGAGGGAGTGAGATGTGAAGTCACTTTGAATGCAAGCTAGCAGCACCCTGGGAAGTGAGCCCATCTGCTCCAGAAGAGCTAGGCCGTGCAGGCTCCGGAATGCCTGGCTCTGCTGCAGAGACCAGGCTGTGACTTGAGGTTAAGCCGCCTAGAGACAAAGTCAGGATGGCTTGATCTGGACACTGCTGGAGTTTTTCTTATCTGAAGCCTATGAATGACCAGTGTCAGTGTGAAATAGTGCTTTCAAGCAAAACGATCTTTCTTAAGGCTCTTTGAATTATCAAAATGGGAAGTGGTACATTTTCATTGTCACTGCTGAAGACACTCAGTTGGTTACTCTTTTAATTCCAAATTAGACAAACTAGTTCTATTTCTTAGTGCTTCCGGAAAGCCTCCTAGAAGAAAAAAAATAAGGATACATTTGTAAATGACAAGTGATTTTTCTGACTTTACCCTAAAATCATGGAAGATATGTAAAACAAACCCTATAGGCTATCCGTTCCTTGTGTACGTACCCCGAGAGAGCCTACTTTTTATAAAAGCTAAATATGTGAATTACAAATGGCTGGGCTATAGGTTTTACTTCTTTTTCAGCTGTTGGATATCCCACCTGCCTGTTTTCCTCTCTTCTCTCCCAAGCCATGCCTCTCGGACTCCGAAGTTGAATTACATATAACCACATGGGTTGTTTGGAAACATAGTCAGTCTTTATTTCTAGCCGCTTCATGAAGTAGGTGTGTGAGACCCTCAGAGGAAAATAGAGAAGTAGAAACACTTTGTTAATTAGAAATGCATTAAGAAGCTGCATGGATCTTAACCTTTGCTTGTAAAGGAAGAGGTAATAATTGATTACACTGTGGGCATACAACATTCCAGGTGCTATCTTCAGTGAGGGCATTTTCGAGACAGAAAGGAAAACTAATCACAAGTTCTAATCCCGAGGGTAATTTAGACTTTGTTCACTTGCACAGATTTATTGGATGCCTCCTGTGTTGAAGCACCAAGGCTGGCCCTGGGGCTGCAGCAGTGAATAAGGCAGACCCAGTCCCTGCCTAACAGGGACTGAACACATGCTCACGTGTGTGATATTTGTTCCAAAGGAGGAACACAGGTTATCTGGGAGAGTTGATTATAGCGAGGAAGAAATCTTAGTCTTTTCTGTTTGAGTTAAAGGAAACATTAGCATATGGTTTTAGAGCAGAGGCCCTGACTCCTAGATCCTTATGCCCTGTTCTGTCCTGCAGCCCCTGCATTCAGTCTGCAGTACTTCCCTCCCACTCAGCACCACACCCTTCTGCCCCTCACCCCATCACCACCACAAGCTTTGAAGAAATAAAGGAAGTGCTCTTTCTCAAGAAAGCCAAGAACCCCTTTCATAGGGCTTATTAGCAAATC
GCTGCTCCCAACCATCTCTAGTGACACCACAGAGACTACAGGAGACACAAATTTGTCCTCCTACTTCTACCTCCAGCTCTTAGTCAGGGGCCACGTGTGAGGCTGGTATGTGTGGGCTTGCGGGGTCAGAAGGAGGGAAATCCCGAAAATACCTCTGAGTTAAATGCTTTTCTGGTCCACTCTGCTCTATATGTGTTGTTTCTGCTGAAGCCTTTCAAAGGGCTAAGACCCTTCTTTGGAATCTAATAGTGCTATTTTGCCAAATTGGACTTCTTACTGTTGTTGAATCTTTTTTCTCCTTCTGTCCTGTTGTCTCTACCTGAAGTACAATCTTCTTAATCTCCATTTCCATCTGTGAGAATTCTACTCATCAGTTACTTCCCAGCTTAATGCCACTTTCTTTCAGAAACTCCCTGAGATTCCTTCCACCATCAGTAATCGTCCCTTCATCACATGTTCTGCCTTACATTCCAGCTTCGTACATCCTCATCACCCTCTTCCTTTTTGCACTGTGAGCTCTTTGAGTTCAGGAACTGTCTTGTTCACCTTTAGATGGAGGGTGTTGGAATGATGAGGTTAGAGGAAGCCAGGTTTGAGTCCCTTCAACATTTACTCGCCATGAAACCTTGCACAAGTAAGTTACTTAACCTCTGAGTGGATTTTCCCCTCTGGAAAATGGGCATTACAACAGTACCTACCTCATGAAGCTGTTTTGAAGATTAATTGAGGTAACATACCACAGTAAAGGTTGAAATAAATGTTAATTCCTTTTTCTATACCCTTACGGTACCCTGCCCATGTAGCGCCTCATCCACACAGGCCTTCAGTGATTGGTGATTGAATAAAAAATACAGATCCAAAGTGCTTTTGTACAAAATTCACTTTTGCATTGTTGAGTCAATGGCAGATCCAGAAAAGAATCTGGGGCTGGGCGTGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGACAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTTGTCGTGGTGGCGGGTGCCTGTGATCCCAGCCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACTCGGCTGGGGTGGGGAGGAGGGCGGAGGTTGCAGTGAGCCGGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATCCGGGGCTGCTGAACATCCCACACTTGTGCCCACTTGCACATGCCGAGTAAGTGGAACGTTTTAATTATGTTTCATAAAGTCTCTAGAATTAAGTAGGGTTTTGTTTTAACAAACAAATTGTACTCCTTATATGAAAGATAAAATTCTATTTGGTGGTTGATTGGTTGGATTTTCAAATAAGCAGTTGCTTTCTGGTTTGCCTTGACATTTTATAAACATAACTACAGATGGAAGCTCAAAAGAGAGGCAACATAGTGTTATAGTGGAAAGATTTGATTCAGAGTTAAATTTTAGATGGTTGTTGACTGTTAACTCCTCCCCAGACAGACTTCACAAATCCCTCAATCAGTGATCGTGTTAATTCTATATATGGTTCTTCCTCTGCTTTTGTTATATTGAAGTGGCATGTCATCTCCCTTTAGAGAGTCTTATTTAATAGGTAGGAAAATCTCATACCTGATTATGAAATTTTGACTAAGCTGGGGATCTGATTCTACCTTTTTGGTGGAAGGAAACTTTTGTAATTTCTTCTTTCATTGATTATTAAACCTGTTTGGGGAGGTAGGGGTGTGTGTGGAGGGGTGTACCCCATGGAGTAAATATGCTTTCTAGGAAATTTTCTTCTTTTTTTCATCTCCCTCTAGGCCTGCACTGCCCAAAGTCTTGGAAACTTGCTGGATATGATGTACCGGGAGCCAGCACGATGGTCCTACACATTCCAGACATTTTCCTTTTTGAGCCGCCTGAAAGTACAGCTGGAGCCCTTCCCTGAGAAACTCTTACAGGCCAGGAAGCCAGTACAGATCTTTGAGAAGTCTGTGTACAGTGACAGGTAAAATGCCAAGCCCTCCACCAGTCACAAGCCCCATGCTCAGTGCTGCCTGTTTGATCTTGCACAGATCCTGCACTGCTATGGTCACTGATGATTATAATTTGAAAAATTATCTTCTTTTTTAAAGACAACACTATACAGATTTGTCCAGAGTTGTACTTCTACCAGATTGTCATCTATGTCAAGAAAGGAAATTGGGTTTTTCATCAACTGAATGCTTTGAATTTCTTACATTGCTACTGATTACCTTATGTTTCCTTATTTTCTGGCATGGAGCAAGCTGGTAGCCACCTAATGTAACCATCACATGCTAAAAGGCACATAATAGACACTTAAGTAGCAGTGTATATTCTAAGAAATCAGATGATTCAGTGGTTGATTATCCCCTTTAAGAAAAAAGCAGACGAAATTAAAATTTGTGTTCCTGAAAATGATATAAGAGATATTTTCAGCCTTTTTTTTTTATTGTTCAAGAAAGGATGCTTAGGCAGAAATAGCACATCTGAGAAACTGGCTTCTGTCTCAGATTTAGCCCTTTTTGACCCCTTCTTCTGTGAGAGGGCTTTTTGCTGGCCAGAGTCTAGTGGACATCAGTGCCTGTGTCAGATCAGGGATGGGCATCATCCTGACCACCTGAGGGAGTGAGATGTGAAGTCACTTTGAATGCAAGCTAGCAGCACCCTGGGAAGTGAGCCCATCTGCTCCAGAAGAGCTAGGCCGTGCAGGCTCCGGAATGCCTGGCTCTGCTGCAGAGACCAGGCTGTGACTTGAGGTTAAGCCGCCTAGAGACAAAGTCAGGATGGCTTGATCTGGACACTGCTGGAGTTTTTCTTATCTGAAGCCTATGAATGACCAGTGTCAGTGTGAAATAGTGCTTTCAAGCAAAACGATCTTTCTTAAGGCTCTTTGAATTATCAAAATGGGAAGTGGTACATTTTCATTGTCACTGCTGAAGACACTCAGTTGGTTACTCTTTTAATTCCAAATTAGACAAACTAGTTCTATTTCTTAGTGCTTCCGGAAAGCCTCCTAGAAGAAAAAAAATAAGGATACATTTGTAAATGACAAGTGATTTTTCTGACTTTACCCTAAAATCATGGAAGATATGTAAAACAAACCCTATAGGCTATCCGTTCCTTGTGTACGTACCCCGAGAGAGCCTACTTTTTATAAAAGCTAAATATGTGAATTACAAATGGCTGGGCTATAGGTTTTACTTCTTTTTCAGCTGTTGGATATCCCACCTGCCTGTTTTCCTCTCTTCTCTCCCAAGCCATGCCTCTCGGACTCCGAAGTTGAATTACATATAACCACATGGGTTGTTTGGAAACATAGTCAGTCTTTATTTCTAGCCGCTTCATGAAGTAGGTGTGTGAGACCCTCAGAGGAAAATAGAGAAGTAGAAACACTTTGTTAATTAGAAATGCATTAAGAAGCTGCATGGATCTTAACCTTTGCTTGTAAAGGAAGAGGTAATAATTGATTACACTGTGGGCATACAACATTCCAGGTGCTATCTTCAGTGAGGGCATTTTCGAGACAGAAAGGAAAACTAATCACAAGTTCTAATCCCGAGGGTAATTTAGACTTTGTTCACTTGCACAGATTTATTGGATGCCTCCTGTGTTGAAGCACCAAGGCTGGCCCTGGGGCTGCAGCAGTGAATAAGGCAGACCCAGTCCCTGCCTAACAGGGACTGAACACATGCTCACGTGTGTGATATTTGTTCCAAAGGAGGAACACAGGTTATCTGGGAGAGTTGATTATAGCGAGGAAGAAATCTTAGTCTTTTCTGTTTGAGTTAAAGGAAACATTAGCATATGGTTTTAGAGCAGAGGCCCTGACTCCTAGATCCTTATGCCCTGTTCTGTCCTGCAGCCCCTGCATTCAGTCTGCAGTACTTCCCTCCCACTCAGCACCACACCCTTCTGCCCCTCACCCCATCACCACCACAAGCTTTGAAGAAATAAAGGAAGTGCTCTTTCTCAAGAAAGCCAAGAACCCCTTTCATAGGGCTTATTAGCAAATC
Task1_train_3763
A variant affecting Chromosome 2, within the gene DGUOK (deoxyguanosine kinase), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
GGTTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTC
GGTTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACGCGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTC
Task1_train_3764
A variant on Chromosome 2 in gene DGUOK (deoxyguanosine kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; DGUOK-related disorder
TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACAAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
Task1_train_3765
A variant has been detected on Chromosome 2 in DGUOK (deoxyguanosine kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACAAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
Task1_train_3766
The gene DGUOK (deoxyguanosine kinase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Portal hypertension, noncirrhotic, 1
TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACAAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
Task1_train_3767
This mutation is located in gene DGUOK (deoxyguanosine kinase) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACAAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
Task1_train_3768
This genomic variant is located on Chromosome 2, within the DGUOK (deoxyguanosine kinase) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Inborn genetic diseases
TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
TTTGTCTGCAAGCAGTGAATGAATAATTATAAATAGCTTTCCTAAAAAGAATTGTTCTGCCTTTGTGTGTGTACTTGGAAACATAAAGTCACATTTTAAAAAAATTTATTTTCACGAAACAGACAACATTTTTTTTCTCAGAAAGGAAAATGAGATGATAGCTTTGCTATGCTTAGAAATCCTAAAGCTACCTTTCTGGTGGGAATATAAATTGGTTAACCTCTAAGGAGGCAGTCTGGCAGTATATAATTGCAAGTGCATATACCTTTTGATCATTAATAAAATTTGTTTCTATAATTTCATTTCCTTAGAGAAAAGGTAAGATAAGAGGGAAACAGCAAAGACTCCCAAGTCTTTGGGATTATTGTGTACTACATTTGGAAATTAAGTTTTCATTTCTTAAGTAAGTTATTGAAAGAGGGAAGTCCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCATTTTGAGAAGCCGAAGCGGGCAGATCACGATGCCAAGAGATCGAGACCATCCTGGCCGACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGTTGGGCGTGGTGGCTCCCGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCTGTCTCAAAAAAAAAGAGTGAAGTCCTAAATCAGTGGGTTAATCCATCTGTTCTTCCAGGACAGATGATATTGAATAATGAAATGTTTGTCAAGCAGAGAGAGGACTGAGGATAATTCAGTCAAAACAAACATTTGGAGCAAAAATTTTGAGGTGTGAAAGAGCCTGGCCTGTTCCCCAGGAAAGAGGTCAAATCTGGCTAAAGCAGTGAGTCCAGGGGAAGAGCTAAGGCAGTTGAGAAGTAGGAGGGGTAGCTTTGTGTGACAGGTAAAGAAGATGTCATTTTCTGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACAAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCAC
Task1_train_3769
Gene DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATTATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
Task1_train_3770
Gene DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Portal hypertension, noncirrhotic, 1
TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATTATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
Task1_train_3771
Gene DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
TGAGCCAGTGTGCATCAAACTTCACTACCAGATGAATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATTATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAAT
Task1_train_3772
Here’s a variant in DGUOK, DGUOK-AS1 (deoxyguanosine kinase| DGUOK antisense RNA 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
AATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCTCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGC
AATGCAGAATAGAATTATGTACACTCTGCAAAGCAGCGGGGGAGGAGAGTTAGTCTCAAGCCTCACTTGTTTTTCCACTTCTTTGTTTTATCTTTGACCTGTGCAAATTTTACATTCTATTCCTGAGTGAATGTTTGGTATGACATGAAAGAGATATTTCAAATTACCTAACATTTTATAAATGCAATGCTATTCATACATACTGCTTTGAACCCTGGGGCTATGGCTGTAGGCGGTAAAGAGCCTGTGAAGTATTTTCAGCAAGGAAAGTCATGTCATTATATTGCCGTACTACAGACGGGTGGAGTGAAGGGGAAAAACTGGAAGGAGGGAACAGCTTTTGCCAGGAGCTCAATACAACTTACCTCAGTGACCTGTGGATGGGTAGACAATGAGGAAATAGAAGCCCACAAGGACTGCACTGCTAGTACCTTATGAAGGCAGGAATTTACTCCTGGACTTTCTGACCTTAAGGCCTGTACTCTGTCCATATGCTTCCCTGCCTCCAGGAGGCAGAACCAGAAGGCTCTTGCCATAATCCAGGTAAGAAGTAAAGAGGACCCGACCAGGGCAGAGGTGAGAGGAGAGGCAAGGAGAGAACATTCTAGAGAGATGAAAGAGAATTGAGTGACTTCCCAGATATAGTAGGGAGAAGGAAAAACAAGGAAAATTCCAGGTCCGTGGCTTGGATGACTGGATGGATGATGTTCATCATTAACCGACTTAGGATACTTCAGAGGAAGAGCAGGTTTAAGGTGGAGATGGGAAAAGAATGGTGTAGATCCTCTGATTGCATAAGAAAACAAGACAGCAGAAGCAAAGGCATGGCTTGTAATGCCCAAGATAGACATTATGGGTGGGCCTCAGAGCCCCCGAAGACTGCATTGTAGCAGCCAAAACAGCAAAGAGCTCATCAGGGCTTGGGGACTGTCTTTTAGGTTTGTTTGAAGAGACTGTACCAGAGGGCCAGGGAGGAGGAGAAAGGAATTGAGCTGGCCTATCTAGAGCAGCTGCATGGCCAACACGAAGCCTGGCTTATTCACAAGACAACGAAGTAAGTGGGGAGAAAAGAATGTATCAGAGACAGAGACCTGGCTCCCAACAGCCAGTTGTTAAAAACAAGTTCAGCATGCAGCCCCCTGTAGGAAGGTTCAGAATATACTGGAAATGGTTGGAAATGTCAAGCATTTTCCAACTCAGAAGTTTAATATTGCTGGACACCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGTCACCTGAGGTCAGGATTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATAGAAAAATTAGCCAGGTGTGGTGTCAGGCGCCTGTAATACCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAAAGATTGCGGTGAGCCGAGATCGCACCACTGTACTCCAGCCTGGGCGACAGAGTGAGATGCCCAGAAGAAGTTTAATATTGAATATAATCTTTACATTCCAAGGGCCTTTTTATTAGATTGTATTTCTCCAGCTTTTTCTTTGTTTCTTAACATTTCCCTAGACTGAACATTGTGATTGATGGTGATAGTTGGCTCAGCATGAAGGGCTGAAAATGTTAGAGAAATTGTCAGTATTACTAAGTTGGCATTCCTGGTTTCTGCCTGTCCTCCCTTTAGGCTTGGTTTGTTGTCCACTTAAAATGTTTGGTGCTCTGACTGTTTGTTAGTATCACTCTCAAGAATGAAGAGAAACCTCAACCTTTCTGTTTCCGGCCAACTTTATTGAATTTGTTTTTTTAAATGCAGTTTACATGCAGTTTCTTTGAAAAGTCATGTTGAATTTAGATCTGTTCTCTGAGTAAGACTTGGCGAGTATGTGAAACTTGACTCAAGTTACATTTCTTTTTTTCTGTCCCCCAAACGTTCACGCTTCTTATAGGCTCCACTTTGAGGCTCTGATGAACATTCCAGTGCTGGTGTTGGATGTCAATGATGATTTTTCTGAGGAAGTAACCAAACAAGAAGACCGCATGAGAGAGGTGGGAAGGACTTTAACTCCTGTTTTCTGGTGGTTTCCTTTGTTGTACTTTTATCTTTCTGGCCTTTGCTTCAAAGTTCAATATCATGGGTCTTGTGCTTTGCATCTCACATTGCATTTCACACTCCAAGGCCTATGGAATCTTGTGCAGATTACAAATATCCCTATTCTCTAAAGTATGCTGGACTAATAATTGTTAAATAATTGACTTGTAACATGTGCTTGCCAGCTGACTTTCTTCTCTAAGGCATCCTAAAACTAGGGAAATGAGACTACTGGATTCTATTCCCAGCTCTGCCACTTGATGCTATATGACCCTGGGCTGCCCACATTTCTTCTCCATGCCTATTATTTTCCTTTCCTCACAAAAACCTCATGGGCTTGGCTGCATATGCATTGGGGGTGGACCATTGAAAATTCTGTTAAAAATGTGAAATTAAACTTCTGATTTTCTCCTTCCCACAGGTAAACACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGGCTGTGATCTGGGCTCCCTGACTTTCTGAAGCTAGAAAAATGTTGTGTCTCCCAACCACCTTTCCATCCCCAGCCCCTCTCATCCCTGGAGCACTCTGCCGCTCAAGAGCTGGTTTGTTAATTATTGTTAGACTTTGCCATTGTTTTCTTTTGTACCTGAAGCATTTTGAAAATAAAGTTTACTTAAGTTATGCTTGTTTTTCTAATTCAGTTGCTCATTTATTTCAGCATGTATCTCTTGGTGCTTGCTCTAAATTCACCTCTAGACTAGTGTATTAGTCCGTTTTCACACTGCTATAAAGATACTACCTGAGGCTGGGTAATTTCTAAAGGAAAGAGGTTTAATCGATTCACAGTTTCGCATGGTGGGGGAGGCCTCAGGAAACTTACAATCATGGCAGAGGGGAAACAGGCACATCTCACATGGTGGCAGGTGAATGAGCGAGTGCAAGAAAGAGCAGGGAAACCTGCCTTATAAAACCATTAGATCTTTTGAGAGCTCACTGCCATGAGAACAGCATGGGGGACCTGTCCCGGTGATACAGTCGCCTCCCACCAAGTCTCTCCCTTGACACCTGGGGATTACAATTCAAGATGAGATTTGGCTGGGGACACAAAGCCTAACCATATCAACTAGCAATTTTCAAATTGCTCCCAGAACTCTAACCCAAGCCCTACCTGCCATGCATGAAGAAGGGAAATAAAGTGGCTCAAGAGTGGGTGGGATCTTAAATGTGAGCCCCCCAGAGCAGGAAATGGAGCATGAACTCCAGGAAGCTTCTTTATCTCTTCCCATCTGCCACTCTTGACATAGGGGACAGGTGTGGGGAACTTAAACCCTTGTCCTAGAGCTAAAGAACCTGGCCAAAAGAAAAAGGTAGAAAACAGCAAGAACCCAAAAGTTAAGCATCTGACATTTAAGATTGGCCCGCCCGGCACTCTATCTTTGTCTAAATACCTTACCCAATGACTTCCAGATAACGTTAATGGAGTGGATCTCTCTGTGCAGGAAAAAAAAAAAAAAAATTTTTTGTTGTGCTCTTTACCCTTCAAATAGAATTTATTGTTAAGGGAAGAAAAATACATGGCTCTATAGGATTGAAGTGCTCCATTGCCAGAAGCCTGCAGGTCCATGATTCACAGGAGCAGATCTGCACTGAACCCTTGACGGTTCTGCAGGTACACAGGAAGATGAATGATCTGGGGACGTAAGAGTGCCCCAGAAGACAGAAATCTGTGTTTCTGTCCTTTATGCTTTGGGGAAATGAATGTGAGATTGGTTTCTAACAAATACATAGGCCAGGCAAGGTGGCTTACACCTGTAATGCCAGCACTTTGGGAGACCAAGGCAGGTGGATCACCTGAGGTCAGCAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACCAAAAATACAAAATTTATCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAAAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGC
Task1_train_3773
This variant impacts the gene DCTN1 (dynactin subunit 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Pathogenic; not provided
GCAGAGGCCCAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGG
GCAGAGGCCCAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTGGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGG
Task1_train_3774
An alteration has been detected in DCTN1 (dynactin subunit 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Perry syndrome
CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTTCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
Task1_train_3775
This genomic variant is located on Chromosome 2, within the DCTN1 (dynactin subunit 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Neuronopathy, distal hereditary motor, type 7B
CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTTCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
Task1_train_3776
Given a variant located on Chromosome 2 and affecting DCTN1 (dynactin subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Amyotrophic lateral sclerosis type 1
CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTTCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
Task1_train_3777
An alteration has been detected in DCTN1 (dynactin subunit 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Perry syndrome
CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
CAAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTTCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGT
Task1_train_3778
This mutation occurs in DCTN1 (dynactin subunit 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Neuronopathy, distal hereditary motor, type 7B
AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTC
AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCTATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTC
Task1_train_3779
Gene DCTN1 (dynactin subunit 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Perry syndrome
AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTC
AAGGCAGGGGCTGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCTATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTC
Task1_train_3780
Gene DCTN1 (dynactin subunit 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Perry syndrome
TGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGG
TGGTTTGAGGAAGTGGTCATGGCAGTGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGTCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGG
Task1_train_3781
A mutation found in DCTN1 (dynactin subunit 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Amyotrophic lateral sclerosis type 1
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCGTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
Task1_train_3782
This is a variant in DCTN1 (dynactin subunit 1), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Perry syndrome
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCGTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
Task1_train_3783
The gene DCTN1 (dynactin subunit 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Neuronopathy, distal hereditary motor, type 7B
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCGTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
Task1_train_3784
The gene DCTN1 (dynactin subunit 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Neuronopathy, distal hereditary motor, type 7B
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCTTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
Task1_train_3785
A change on Chromosome 2 affects gene DCTN1 (dynactin subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Amyotrophic lateral sclerosis type 1
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCTTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
Task1_train_3786
The following genetic variant occurs in DCTN1 (dynactin subunit 1) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Perry syndrome
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCCTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
TGATCTAAGAGTTTAAAGAGTCTATGGTGGGAAGGGGAGGGGACGTGACATGATTGAGCCCCACTCCAATGATGGTTGATGAAAGGCTGCAAGGGGTAGGAGGTAGGCCTCAGGCACACCACCAGAGGAAGGAGACAGGGACAGACTGATGGGGCAGAGTTGTGGGGTGTGGGGATATTTATGGCTGTGCCCATCCACAGGCAGGCACATGAAGGCTCTTAGGTTTTCCAACTTGGGACTGTTCTTCCTAGGCTCTGTTCCCTGACCTCCCATCTTCCTGCAAAACCCCCTCACTTGGTACCTTCCTCAGCCCCATTCCCCCAGTCTATCCTTCCACAGTCGTCCAAGCTCGGGCTAAGTGAGAACACACTGTAACCCAGTAAATGATCTATTTCACACTGCTGCTATTTACAGTCAAATGCTTATAGTTTTTGATTGGGGAATCTTTGACTTGGAGTCCTGGGGCAGAGAGAATCATCCCTAATGAGTGCTACCTGGGTATGGACACTGAGCCTGATGTTCTTGCACCCTTCAAAGGAACTCTGAAAGCCAAGGCCACCATTTCCTCTGGCCATCCCAGCCCAAGGTCACACACACATGCATGCAGCAGCCCAGGGACATGCAGGACAGCTGGGGAAGGGGCTCATGGCCCCCATCCACCCAGGCACAAATAGTAAACACACCACCTTCTTAGGCTTCAGTCCCCGCTGCATGAGGAGTAGGAAAGGGCAGAGTTAGAGAACAGATGTCCTGGGCATAGGTGTTAAGACCAACTCGGGCTTACACAGGTTAGACGCGGGTAGGGGGGAGTCAGGGTGAGATGAGTAGCCCCTCAAAGATCAGCTTCCAGGATGTTCACACCTTGGCCCAGAGAAGCTGCAGAGTCTGCAGCCCCACCTCACACACATCCTGCACAGAGTAGCAGAGAAGAACTAGGAAGCACTCTCTGCATCCAGCTTAAAACAGGAGGCAGAGGGCCCGGCTCCTTGCCATTCACTTGTGAATAGGAGATTGCTTCTTCCTCTATCTTCTACCTTAACCTTACCCTCAGACCCTTTAGATGTTGGCATCTTTGGGTACCAAAAGGTAGGAAGTTGGCTACACTACTAGGGCCAGACCTGTCCTTCCTATCACCCTCAGCTCAATCTCATTTGACCCTGAACTTCTGGAGCCTATGAGTTTTTCCCTTCTACCATCTTTACTGTAACTCTAACACAGCAATTAATCCCCAGAAAGCCTCCTTCTTAGGGAAGTTGGAGAGACTAGAAGGCAAATCAGACTCACCTACTACTTCTACCTGCCTAGCACTGGGTATCCCTCCTCTTTCTCCTTCCCCTCCCTTTATTATTCCCCATTCCCACCCCCAAATCACTCACCAGTTTGCTAGTCTTTGCAGTTGTATCAGTTCCCTCTGTAGAAAGCAAACAGAAACAAAGTGTGTACTTGTATAGAGAGGTAGGGGGAGATATAATAAGGGAATATGGTAGTGACGGAAAAAAATCTTAGGATCTACTGTGGCCCCATGTTATGAGGAGAAGTCCTGGGGACTCCTCCTGGCTATGGGGAGGCAACTTTAAGTGGGTGGTTGTTACCTCTTTTGAGGACTTTTGAAGCAGAAGAATCAGGTGTCTCTGGGGAAGTAGTATCTGCTCCATCTTCAAATACCTGGATCTGAGGCCAGATTCAATATAGCCAGATCAATAGTTTCAATATAGCCAGATCAAGGACGGCTGTAATATGGGCCCCTCCCCAGGCTCCAAGCAAACCAAGAGTACAGGGCAGCTTCCCTAAGGATGCATCTTCAATCTTCCCTCCCCCACTACCTTCCACTCTCCCAACCAGAGGCTTATGCCCATGCTCAGGAAAACGAAGTACCAACACATCAGCTGCACATGCGACAGACATGTGCACACATGCACAGACACAAAAGAAGGGCGTGAATACCTGGGACTGGCGCACAAAGATGCCATGCCCTTCATCACAAGTGAAGTACTTCCTGCCTTGAACAGTTCCATCATTTTTGCCCTTTGCTTCATCCAGAATCACGCTTACCCATTTGCCAGTGGCAAACAGTGTGGCTCCAACATAGGCCACAGTGCCTCGGTGGCCTTTTCCAATCACCTCTACACGGGAGCCCACCCGCAGAGGCCGGGCGCTTGCCTCCGCACTCATCCTGCTGCCGCTGGGCGTCTGAAAGACACAGGTAAACACAGACAGTTAGAGGCCTCAGATCAAAGGTGGCATTCTTATGTATAAGAAATGCCTCAGCCAAGATGCTGGACTGAAAAACAACCAGAGTCATTTTCTTAAACCCCATTTACAGAATTGGGTGGACCCCCAAATTCCCCTTTGAAAAAATGCCAATGATATTCTAAGATTTCTCCAAATTCCTCTGGAATCTGCTAGAATTTTTAAGTTTATATTTTTTATAACAAATCAGAATTCATTGACCAGTCTGTGAATGTCACCACATGGCTGCTTTCTCAGGAGCACTGTCTCCTTAATTCTCTTCTCAGGAGGGGAAATAAGATCAAGCAAATAACTCAGTTTAGACCAGGCTCCCCACAACCCAATGCCCTGACTCAGGAGTCTGAGCTGGGAAGACAGGCAATTCAGTGGGTGATCCTACAGAATCCTGTTTCCCCTTCCACTGTCACTTGTCTCCTCTGTGTTTCAAATGGTTTTCTTAGGCCTCACCCTTTCAGAGGCACACAATTGTGCCTCCTTCCAGACCCTTAAGTCACCACCTCTCCTTCCTGATCTGACTCCTCCCACCCCCATCCACAAACCCACCATGAAACCCCAGATGCTTCACCACAGCCCATTCAACCATTCAACTCCCCTTCTACCTGGCCTGAGTCTTGTTTGGTCAACTCTCTATCCCCAAGCTCTGGAGATTCTTCTCCATGCTATGTTGCTATAAAAAGGAAAACACAGGCCAAGTAAATTGGGTGGATCTACCCCTCGCTCTGTCCCCAAGACTCTGCTCAGTGGTCCAAATGAATGGTTTATCACTCCACAGATGGGCAAGGCAAAACAACAGACTAAGACACTGTCCTTGGGCAGCTCTTAGCTTCGGCACACCCATGATGACTGAACACAATAGAAAATTAGGTCCCAAATAGGCCCATGGTTTAGAAGAAAATCACACTTAGGTCATTTTTAGCAACAGCAACTCCATGAACCAGGGGCCTTGCAGCAAACAGATGAATGAGGCATGATGAAGTGATACCATCATCCTAAAGACTCTATGGGAGACCCTTCTGATACTCTCATTTATAATAGCTTCAGAAGGGAGCCCTGGCAGAGCCAGGGAAGAGCCAGGACACCTCCCAGCCTATCACTGCCTAATTCCCTTCCCCAAACAGCTCATCCAGGAAGGTGAGGATGTAGTTCCCAGAGGCTCCAGGACCCCAAATCACACCTGGAACAGCAGGATGGCTCTCATGGACCTGACAATAAAAGGAATTGCCAGTGATATAAAAGGCTGAACCCAAAGTCAGAGACTCCCCCACTTTCCAACCCCAATAAGCCTCTCAGAACCAGGGGGCCACAACAGTAGCTACAGATTCTATCTCAGAAGAGAAAGAAAGCAAGTAACAAATAACAAAGCAGCTCTTAAGAAAGGCTTCACTGTAAGACCTCTCTGAGCCATCATCCCCATTCTGAGTCCCCAGGATAGTCTGGACCCCCTCAGGAGCCCCTGGTATGAGGGCCAATTAGAGTCAGAGGTCAGGCCTTGCTAGTCCCCATTTAGGGATCAACTCTGTAAAGGGAAGCCTGTCCAGCCTTACACCACCAGGGCTTCGAGGGCTCCTTAGAAAACACAGTCTGAGTGCCCTCAGCTGAGCTCCAGCCTATCTCCCCAGCCCCCACAGCAATGATGTCCACAGGCAGCCAGGCCTTCCCCAGCAGCCCTCCAGGGCCATCCCAGATTAGGGCCACTTACCCGGCTGTACACGTGCCTCTTGCTCTGTGCCATGTTGCTCACCCGGCCTCTACCCCCTCCCCCAGCTGGCCAAAGACAGAGAGAAAAGGTAGAAACCTAGGCAGGAGGGTCAGGGCGCTGGGCCCTCATAGAGGGACACAGGAGTCG
Task1_train_3787
This variant impacts the gene MOGS (mannosyl-oligosaccharide glucosidase) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Pathogenic; MOGS-congenital disorder of glycosylation
CCTCCCTTGGACCTCAGAATTTCGGCCTTCAGGGCCCCTTCTCTGCATGAAAGATGCCTGAGTTGCTCCCTCCTTGCCTCTTGCAGGGTTCTGGCTGCTCTGGACTGTCCTCATCCTCTTTAGCTGCTGTTGCGCCTTCCGCCACCGACGAGCTAAACTCAGGCTGCAACAACAGCAGCGGCAGCGTGAAATCAACTTGTTGGCCTATCATGGGGCATGCCATGGGGCTGGTCCTTTCCCTACCGGTTCACTGCTTGACCTTCGTGAGTGACTTGATGCCCTGGGTCAGCTACCAGTGGCCCTCCCCAAACCAGAACCCCAAATCGTCTCACATTCCCTTTTCCACACATTTCAAAGTATTTTTCCCTAATATAAAAACTAGCACCCTATACCTGGTTGTCTTCAACCAATCATGCCAATTTTCTCCCCTGCAGGCTTCCTCAGCACCTTCAAGCCCCCAGCCTACGAGGATGTGGTTCACCGCCCAGGCACACCACCCCCCCCTTATACTGTGGCCCCAGGCCGCCCCTTGACTGCTTCCAGTGAACAAACCTGCTGTTCCTCCTCATCCAGCTGCCCTGCCCACTTTGAAGGAACAAATGTGGAAGGTGTTTCCTCCCACCAGAGTGCCCCCCCTCATCAGGAGGGTGAGCCCGGGGCAGGGGTGACCCCTGCCTCCACACCCCCCTCCTGCCGCTATCGCCGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCCCCGTGTGCACTACCCCCAGAGTCTGTACCGCAGATCTTTCCCATGGGGCTGTCTTCCAGTGAAGGGGACATCCCATAAGTAGTTTTGAGAGGGTGGATGGGTTACTTGCCCACCAGAAACAGCCCTAGTCCCAACTCCTTGCGTTCCTTTGGCCCCTCCCTGCCTACCTAGAATCTGCCTGAAAGGGCTGGAGAGGGGCAGTATTGGGGGACTGTGCTAGCTTTACCCCCGCAGGACATACACAGGAGCCTTTGATCTCATTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGGTATCCAAGGGGCTGGGGGCAAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGAGCCACACAGCACCCCGCCAGTAGGGGGGATCATGCTCTGAATTGCGCTGGCCATAAAAGGAGCTGGAGGCTGCAAGGGAGCGTAAACCAAAGGGGCTCCAGAGATGGCGGCTGTCGGCTAGAATGTCCAGCAGGGGCCCAAGGCGGGATGAGGTGGGGTCCAGCAGTCGCAGCAGCAAGGGAAAAAGACTGACATAGCCAAGAGCATCTACATACTGCAGTTGAGGTTGGGGCCGACCCACCACCCGAACGAGCCCCTGAGGGGGCCTGGGCTTCAGCTGTACTGCTTTTGTGTGGTTCCCAAAGTCTGCAAAGACTCCTAGCTCTGGGGCCCAGTGCAGCTCATCCAGGCTCTCTGCTGCCTCCAGTGAGGCAGCCAGTGGGCCCAGCTCAGCAGCTACCTCAGCCTCACCCAGATGCTCTGCCAGCCGCGTCAGCACACGGGCACCCAGTGCCACCCAACATCGCAGGTCCAGGTGCCGCTCGGTTACTGAAGGGTGTGAAGCCCGGGGGTAGTCATCCAGCCCAGAGGGTAGGGTCTTGGGGTTCAGTAAGGTTGGTAAGGCAGGGTCCCGTCCCCGCCAGCGGTAAGATAGTGGCAGTGGGCCTGCCTGGCTCTGATGGAGCCAGGAAAACCAGGCATGCAGGCGGGGCAAGGCCTTTCGGAGGAAAGCCAAGTCGTCAGGGTCACCAACCTCTAGCATATGGGCTACAGGCAAAAGTAGGGTTGGGGGGTTGGCGTGGACTGCTCGTTGTACTAGGAATTCTGGAGGCACCCGGGCTCGGGCCTCATCCCCCAGTATCTGCTCCCTCCCAATCCAGCCATCAGCATTTAGCAGCCCCAGCCAGTGGCCAAGGGCTTCCCGGGTGAGGGAGGGATCCCACCGCTGAACCACCAGCTGGTGAAAGCCTTCATCCCAAAGGAAGCCTCGTGGGAAGAATGACCGGGAGGGCACTGCTGTAAAAAGAGGTACGGGTGGAAAGAGGGCTGGGTCCACCTTCTGCTCAGACCCTTCCACCCCGATGTCTGGCAATACCAGCCCTTGTCCGTAGAAGTAGCCAATTCCACCAAGGAGGCCGCTGAGGGCAGCCTGACCCAAAACCTGCTCGCCAGAGCTCAGGCCCTTCTCCTTCAGCTGGAAGGTCTTCTCAAAGCGCTCTCTAAAGCCTTCAGCATGGCTCTCCAGGGCCTGGGTCAGTAGACTGCCTGCCAGTCTTGGCAGGGCTTGATTTCCTCCTGCCTGGGCACTGCCTGATTCAAACACAAACTCTATGGAAATGGGAATTTTCAGGGTCACCTGCTGTATCAAGAACTGCCCCTGCCCTTGCCCACTTGGACCTCTGTCCTCCCACTTCAGGGATCCTGGCAAGCCGAGGTAGCGTTCAGGGGGGGCCCCTGGGGGCCGATGCTGAAACCAGCTATTTAGGCGACTCTTTACCATCTCTGTCAGCAGGGGCAGTCCTGGGTTGGAGGTCCAGAAGACATTGTAGCTTGAAGGGGAGAAGATAAATAGGAAATATTATTCAAGAGAAGGCAGTGGGCATTATAAAGAGAAATACAAAGTGTTCAGGAGTCAGGTTGGGAGGTCTCAGGCAGGGGACATGGAGACTGGTGAAAATGGGAATAACCACCCCTTCCATCCCCCAACATTCTTTTCCCCCAGTTACCTGCCATACTTGGGGGCTGTATCCCCTGGACTGGTTGGTGGCAAAAGTGTAAAGCGGAAGTCACCAAGTTCACTGGTGTGCCCACTGATAAACTTCAACTGCCCCTTGGCCCCAACCTCTGGTAGTAGGACTTCCTTGCCATCTGTCACCACATAGAAGAACAGGGAGACCAAAGGGAGGGCAGAAGTACCTGAGTCCTGAGTGACCAACGAGGACAGAAAAGAACAGTGTTAGATTGGCATTCTCTCTTGAATTCCCTCTTGAGAATCAGCCTTAGTGAGGGAAAGGAACAGTAGGCAGGGGTAATGTAAACAACATACGTCTGGCAGTAATGAGGGTCACTGAGGGTAACCAGGTACACCCAAGCGGGATGAGATAAAGAGCCTTGCACTGGGTGCCCTGGGAGATAACAGTATACTTTTGTACTATGTCCTACACTAAGAACTCTACACAGTTGATTTCATTTAATTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACAATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCACCGTGTTAGCCAGGATGGTC
CCTCCCTTGGACCTCAGAATTTCGGCCTTCAGGGCCCCTTCTCTGCATGAAAGATGCCTGAGTTGCTCCCTCCTTGCCTCTTGCAGGGTTCTGGCTGCTCTGGACTGTCCTCATCCTCTTTAGCTGCTGTTGCGCCTTCCGCCACCGACGAGCTAAACTCAGGCTGCAACAACAGCAGCGGCAGCGTGAAATCAACTTGTTGGCCTATCATGGGGCATGCCATGGGGCTGGTCCTTTCCCTACCGGTTCACTGCTTGACCTTCGTGAGTGACTTGATGCCCTGGGTCAGCTACCAGTGGCCCTCCCCAAACCAGAACCCCAAATCGTCTCACATTCCCTTTTCCACACATTTCAAAGTATTTTTCCCTAATATAAAAACTAGCACCCTATACCTGGTTGTCTTCAACCAATCATGCCAATTTTCTCCCCTGCAGGCTTCCTCAGCACCTTCAAGCCCCCAGCCTACGAGGATGTGGTTCACCGCCCAGGCACACCACCCCCCCCTTATACTGTGGCCCCAGGCCGCCCCTTGACTGCTTCCAGTGAACAAACCTGCTGTTCCTCCTCATCCAGCTGCCCTGCCCACTTTGAAGGAACAAATGTGGAAGGTGTTTCCTCCCACCAGAGTGCCCCCCCTCATCAGGAGGGTGAGCCCGGGGCAGGGGTGACCCCTGCCTCCACACCCCCCTCCTGCCGCTATCGCCGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCCCCGTGTGCACTACCCCCAGAGTCTGTACCGCAGATCTTTCCCATGGGGCTGTCTTCCAGTGAAGGGGACATCCCATAAGTAGTTTTGAGAGGGTGGATGGGTTACTTGCCCACCAGAAACAGCCCTAGTCCCAACTCCTTGCGTTCCTTTGGCCCCTCCCTGCCTACCTAGAATCTGCCTGAAAGGGCTGGAGAGGGGCAGTATTGGGGGACTGTGCTAGCTTTACCCCCGCAGGACATACACAGGAGCCTTTGATCTCATTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGGTATCCAAGGGGCTGGGGGCAAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGAGCCACACAGCACCCCGCCAGTAGGGGGGATCATGCTCTGAATTGCGCTGGCCATAAAAGGAGCTGGAGGCTGCAAGGGAGCGTAAACCAAAGGGGCTCCAGAGATGGCGGCTGTCGGCTAGAATGTCCAGCAGGGGCCCAAGGCGGGATGAGGTGGGGTCCAGCAGTCGCAGCAGCAAGGGAAAAAGACTGACATAGCCAAGAGCATCTACATACTGCAGTTGAGGTTGGGGCCGACCCACCACCCGAACGAGCCCCTGAGGGGGCCTGGGCTTCAGCTGTACTGCTTTTGTGTGGTTCCCAAAGTCTGCAAGGACTCCTAGCTCTGGGGCCCAGTGCAGCTCATCCAGGCTCTCTGCTGCCTCCAGTGAGGCAGCCAGTGGGCCCAGCTCAGCAGCTACCTCAGCCTCACCCAGATGCTCTGCCAGCCGCGTCAGCACACGGGCACCCAGTGCCACCCAACATCGCAGGTCCAGGTGCCGCTCGGTTACTGAAGGGTGTGAAGCCCGGGGGTAGTCATCCAGCCCAGAGGGTAGGGTCTTGGGGTTCAGTAAGGTTGGTAAGGCAGGGTCCCGTCCCCGCCAGCGGTAAGATAGTGGCAGTGGGCCTGCCTGGCTCTGATGGAGCCAGGAAAACCAGGCATGCAGGCGGGGCAAGGCCTTTCGGAGGAAAGCCAAGTCGTCAGGGTCACCAACCTCTAGCATATGGGCTACAGGCAAAAGTAGGGTTGGGGGGTTGGCGTGGACTGCTCGTTGTACTAGGAATTCTGGAGGCACCCGGGCTCGGGCCTCATCCCCCAGTATCTGCTCCCTCCCAATCCAGCCATCAGCATTTAGCAGCCCCAGCCAGTGGCCAAGGGCTTCCCGGGTGAGGGAGGGATCCCACCGCTGAACCACCAGCTGGTGAAAGCCTTCATCCCAAAGGAAGCCTCGTGGGAAGAATGACCGGGAGGGCACTGCTGTAAAAAGAGGTACGGGTGGAAAGAGGGCTGGGTCCACCTTCTGCTCAGACCCTTCCACCCCGATGTCTGGCAATACCAGCCCTTGTCCGTAGAAGTAGCCAATTCCACCAAGGAGGCCGCTGAGGGCAGCCTGACCCAAAACCTGCTCGCCAGAGCTCAGGCCCTTCTCCTTCAGCTGGAAGGTCTTCTCAAAGCGCTCTCTAAAGCCTTCAGCATGGCTCTCCAGGGCCTGGGTCAGTAGACTGCCTGCCAGTCTTGGCAGGGCTTGATTTCCTCCTGCCTGGGCACTGCCTGATTCAAACACAAACTCTATGGAAATGGGAATTTTCAGGGTCACCTGCTGTATCAAGAACTGCCCCTGCCCTTGCCCACTTGGACCTCTGTCCTCCCACTTCAGGGATCCTGGCAAGCCGAGGTAGCGTTCAGGGGGGGCCCCTGGGGGCCGATGCTGAAACCAGCTATTTAGGCGACTCTTTACCATCTCTGTCAGCAGGGGCAGTCCTGGGTTGGAGGTCCAGAAGACATTGTAGCTTGAAGGGGAGAAGATAAATAGGAAATATTATTCAAGAGAAGGCAGTGGGCATTATAAAGAGAAATACAAAGTGTTCAGGAGTCAGGTTGGGAGGTCTCAGGCAGGGGACATGGAGACTGGTGAAAATGGGAATAACCACCCCTTCCATCCCCCAACATTCTTTTCCCCCAGTTACCTGCCATACTTGGGGGCTGTATCCCCTGGACTGGTTGGTGGCAAAAGTGTAAAGCGGAAGTCACCAAGTTCACTGGTGTGCCCACTGATAAACTTCAACTGCCCCTTGGCCCCAACCTCTGGTAGTAGGACTTCCTTGCCATCTGTCACCACATAGAAGAACAGGGAGACCAAAGGGAGGGCAGAAGTACCTGAGTCCTGAGTGACCAACGAGGACAGAAAAGAACAGTGTTAGATTGGCATTCTCTCTTGAATTCCCTCTTGAGAATCAGCCTTAGTGAGGGAAAGGAACAGTAGGCAGGGGTAATGTAAACAACATACGTCTGGCAGTAATGAGGGTCACTGAGGGTAACCAGGTACACCCAAGCGGGATGAGATAAAGAGCCTTGCACTGGGTGCCCTGGGAGATAACAGTATACTTTTGTACTATGTCCTACACTAAGAACTCTACACAGTTGATTTCATTTAATTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACAATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCACCGTGTTAGCCAGGATGGTC
Task1_train_3788
A variant on Chromosome 2 in gene MOGS (mannosyl-oligosaccharide glucosidase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; MOGS-congenital disorder of glycosylation
CCCCCCCTTATACTGTGGCCCCAGGCCGCCCCTTGACTGCTTCCAGTGAACAAACCTGCTGTTCCTCCTCATCCAGCTGCCCTGCCCACTTTGAAGGAACAAATGTGGAAGGTGTTTCCTCCCACCAGAGTGCCCCCCCTCATCAGGAGGGTGAGCCCGGGGCAGGGGTGACCCCTGCCTCCACACCCCCCTCCTGCCGCTATCGCCGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCCCCGTGTGCACTACCCCCAGAGTCTGTACCGCAGATCTTTCCCATGGGGCTGTCTTCCAGTGAAGGGGACATCCCATAAGTAGTTTTGAGAGGGTGGATGGGTTACTTGCCCACCAGAAACAGCCCTAGTCCCAACTCCTTGCGTTCCTTTGGCCCCTCCCTGCCTACCTAGAATCTGCCTGAAAGGGCTGGAGAGGGGCAGTATTGGGGGACTGTGCTAGCTTTACCCCCGCAGGACATACACAGGAGCCTTTGATCTCATTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGGTATCCAAGGGGCTGGGGGCAAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGAGCCACACAGCACCCCGCCAGTAGGGGGGATCATGCTCTGAATTGCGCTGGCCATAAAAGGAGCTGGAGGCTGCAAGGGAGCGTAAACCAAAGGGGCTCCAGAGATGGCGGCTGTCGGCTAGAATGTCCAGCAGGGGCCCAAGGCGGGATGAGGTGGGGTCCAGCAGTCGCAGCAGCAAGGGAAAAAGACTGACATAGCCAAGAGCATCTACATACTGCAGTTGAGGTTGGGGCCGACCCACCACCCGAACGAGCCCCTGAGGGGGCCTGGGCTTCAGCTGTACTGCTTTTGTGTGGTTCCCAAAGTCTGCAAAGACTCCTAGCTCTGGGGCCCAGTGCAGCTCATCCAGGCTCTCTGCTGCCTCCAGTGAGGCAGCCAGTGGGCCCAGCTCAGCAGCTACCTCAGCCTCACCCAGATGCTCTGCCAGCCGCGTCAGCACACGGGCACCCAGTGCCACCCAACATCGCAGGTCCAGGTGCCGCTCGGTTACTGAAGGGTGTGAAGCCCGGGGGTAGTCATCCAGCCCAGAGGGTAGGGTCTTGGGGTTCAGTAAGGTTGGTAAGGCAGGGTCCCGTCCCCGCCAGCGGTAAGATAGTGGCAGTGGGCCTGCCTGGCTCTGATGGAGCCAGGAAAACCAGGCATGCAGGCGGGGCAAGGCCTTTCGGAGGAAAGCCAAGTCGTCAGGGTCACCAACCTCTAGCATATGGGCTACAGGCAAAAGTAGGGTTGGGGGGTTGGCGTGGACTGCTCGTTGTACTAGGAATTCTGGAGGCACCCGGGCTCGGGCCTCATCCCCCAGTATCTGCTCCCTCCCAATCCAGCCATCAGCATTTAGCAGCCCCAGCCAGTGGCCAAGGGCTTCCCGGGTGAGGGAGGGATCCCACCGCTGAACCACCAGCTGGTGAAAGCCTTCATCCCAAAGGAAGCCTCGTGGGAAGAATGACCGGGAGGGCACTGCTGTAAAAAGAGGTACGGGTGGAAAGAGGGCTGGGTCCACCTTCTGCTCAGACCCTTCCACCCCGATGTCTGGCAATACCAGCCCTTGTCCGTAGAAGTAGCCAATTCCACCAAGGAGGCCGCTGAGGGCAGCCTGACCCAAAACCTGCTCGCCAGAGCTCAGGCCCTTCTCCTTCAGCTGGAAGGTCTTCTCAAAGCGCTCTCTAAAGCCTTCAGCATGGCTCTCCAGGGCCTGGGTCAGTAGACTGCCTGCCAGTCTTGGCAGGGCTTGATTTCCTCCTGCCTGGGCACTGCCTGATTCAAACACAAACTCTATGGAAATGGGAATTTTCAGGGTCACCTGCTGTATCAAGAACTGCCCCTGCCCTTGCCCACTTGGACCTCTGTCCTCCCACTTCAGGGATCCTGGCAAGCCGAGGTAGCGTTCAGGGGGGGCCCCTGGGGGCCGATGCTGAAACCAGCTATTTAGGCGACTCTTTACCATCTCTGTCAGCAGGGGCAGTCCTGGGTTGGAGGTCCAGAAGACATTGTAGCTTGAAGGGGAGAAGATAAATAGGAAATATTATTCAAGAGAAGGCAGTGGGCATTATAAAGAGAAATACAAAGTGTTCAGGAGTCAGGTTGGGAGGTCTCAGGCAGGGGACATGGAGACTGGTGAAAATGGGAATAACCACCCCTTCCATCCCCCAACATTCTTTTCCCCCAGTTACCTGCCATACTTGGGGGCTGTATCCCCTGGACTGGTTGGTGGCAAAAGTGTAAAGCGGAAGTCACCAAGTTCACTGGTGTGCCCACTGATAAACTTCAACTGCCCCTTGGCCCCAACCTCTGGTAGTAGGACTTCCTTGCCATCTGTCACCACATAGAAGAACAGGGAGACCAAAGGGAGGGCAGAAGTACCTGAGTCCTGAGTGACCAACGAGGACAGAAAAGAACAGTGTTAGATTGGCATTCTCTCTTGAATTCCCTCTTGAGAATCAGCCTTAGTGAGGGAAAGGAACAGTAGGCAGGGGTAATGTAAACAACATACGTCTGGCAGTAATGAGGGTCACTGAGGGTAACCAGGTACACCCAAGCGGGATGAGATAAAGAGCCTTGCACTGGGTGCCCTGGGAGATAACAGTATACTTTTGTACTATGTCCTACACTAAGAACTCTACACAGTTGATTTCATTTAATTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACAATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTCTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCAGCGCAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTTGGATCACAGGCATGCGCCACCACGCCCGGCTAATTTTATATTTTCAGTAGAGACGGTGTTTCTCCATTTTGGTCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCAGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTTTCATTTAATTCTTACAGTCCTGTGAGTTAAGTGCTATTATTATCTACATTGTACATTTTACAAGCAAGGAAATCAAGGCTTAGAGATGGTAAATAGAAATGGTTATACAGGCAGT
CCCCCCCTTATACTGTGGCCCCAGGCCGCCCCTTGACTGCTTCCAGTGAACAAACCTGCTGTTCCTCCTCATCCAGCTGCCCTGCCCACTTTGAAGGAACAAATGTGGAAGGTGTTTCCTCCCACCAGAGTGCCCCCCCTCATCAGGAGGGTGAGCCCGGGGCAGGGGTGACCCCTGCCTCCACACCCCCCTCCTGCCGCTATCGCCGTTTAACTGGCGACTCCGGTATTGAGCTCTGCCCTTGTCCTGCCTCCGGTGAGGGTGAGCCAGTCAAGGAGGTGAGGGTTAGTGCCACCCTGCCAGATCTGGAGGACTACTCCCCGTGTGCACTACCCCCAGAGTCTGTACCGCAGATCTTTCCCATGGGGCTGTCTTCCAGTGAAGGGGACATCCCATAAGTAGTTTTGAGAGGGTGGATGGGTTACTTGCCCACCAGAAACAGCCCTAGTCCCAACTCCTTGCGTTCCTTTGGCCCCTCCCTGCCTACCTAGAATCTGCCTGAAAGGGCTGGAGAGGGGCAGTATTGGGGGACTGTGCTAGCTTTACCCCCGCAGGACATACACAGGAGCCTTTGATCTCATTAAAGAGATGTGAACCAGCTACTTGTGGATTTGGGTGGACTAAAGCTCAACTCACTGCATTGCACTTGACCTGACTGGGTTTGAAGGGGACAGGTTATGGCCACTTGACCCCACCTTCCCTGAGGACAGCAGACAGTGCTGAGGCCTGGACTGACCTAAGGCCTCTTGGTGAGGCAAATCTGGCAAAAGCAATAGAGTTCAAAATGTTTTTTCCAATTTATTTAGAAAAATAGACTCTGGATTCACATTCACCCCAGGGCTATGTGGGATGACAGCAAGGAGACACCTGAGATGAAATGAGGAAGGTTTGAATTACTGGTATCCAAGGGGCTGGGGGCAAAAGCCAGAAGCCTTTGTCCCTTCAGAGCCAGAGTGGCATGAGTGTCTTGGCTCCCCTCCTCTCCCTCCCTTCAGTAGTCTTCAGCCATGGCCAGTAAGACAAGGCTGGTCCAGCCGTGGAAAGGGCGGCAGCCCATGCCTCGCCCATCGCGGTCACTGTACTGCTCCCAAAGAAAGCCTGTAGCCTGGTACTGGCGCCATACATTGCCTACCACGTTGGCACGGAGCTCACCGTGGAGTTTGGCAGCCCGAGCCTGGTGAGGACCCTCCAGATGCCCATAGTGGTGGAGTGCTCCCAAAGCCAGGTAGTTGACATTGAGCCACACAGCACCCCGCCAGTAGGGGGGATCATGCTCTGAATTGCGCTGGCCATAAAAGGAGCTGGAGGCTGCAAGGGAGCGTAAACCAAAGGGGCTCCAGAGATGGCGGCTGTCGGCTAGAATGTCCAGCAGGGGCCCAAGGCGGGATGAGGTGGGGTCCAGCAGTCGCAGCAGCAAGGGAAAAAGACTGACATAGCCAAGAGCATCTACATACTGCAGTTGAGGTTGGGGCCGACCCACCACCCGAACGAGCCCCTGAGGGGGCCTGGGCTTCAGCTGTACTGCTTTTGTGTGGTTCCCAAAGTCTGCAAAGACTCCTAGCTCTGGGGCCCAGTGCAGCTCATCCAGGCTCTCTGCTGCCTCCAGTGAGGCAGCCAGTGGGCCCAGCTCAGCAGCTACCTCAGCCTCACCCAGATGCTCTGCCAGCCGCGTCAGCACACGGGCACCCAGTGCCACCCAACATCGCAGGTCCAGGTGCCGCTCGGTTACTGAAGGGTGTGAAGCCCGGGGGTAGTCATCCAGCCCAGAGGGTAGGGTCTTGGGGTTCAGTAAGGTTGGTAAGGCAGGGTCCCGTCCCCGCCAGCGGTAAGATAGTGGCAGTGGGCCTGCCTGGCTCTGATGGAGCCAGGAAAACCAGGCATGCAGGCGGGGCAAGGCCTTTCGGAGGAAAGCCAAGTCGTCAGGGTCACCAACCTCTAGCATATGGGCTACAGGCAAAAGTAGGGTTGGGGGGTTGGCGTGGACTGCTCGTTGTACTAGGAATTCTGGAGGCACCCGGGCTCGGGCCTCATCCCCCAGTATCTGCTCCGTCCCAATCCAGCCATCAGCATTTAGCAGCCCCAGCCAGTGGCCAAGGGCTTCCCGGGTGAGGGAGGGATCCCACCGCTGAACCACCAGCTGGTGAAAGCCTTCATCCCAAAGGAAGCCTCGTGGGAAGAATGACCGGGAGGGCACTGCTGTAAAAAGAGGTACGGGTGGAAAGAGGGCTGGGTCCACCTTCTGCTCAGACCCTTCCACCCCGATGTCTGGCAATACCAGCCCTTGTCCGTAGAAGTAGCCAATTCCACCAAGGAGGCCGCTGAGGGCAGCCTGACCCAAAACCTGCTCGCCAGAGCTCAGGCCCTTCTCCTTCAGCTGGAAGGTCTTCTCAAAGCGCTCTCTAAAGCCTTCAGCATGGCTCTCCAGGGCCTGGGTCAGTAGACTGCCTGCCAGTCTTGGCAGGGCTTGATTTCCTCCTGCCTGGGCACTGCCTGATTCAAACACAAACTCTATGGAAATGGGAATTTTCAGGGTCACCTGCTGTATCAAGAACTGCCCCTGCCCTTGCCCACTTGGACCTCTGTCCTCCCACTTCAGGGATCCTGGCAAGCCGAGGTAGCGTTCAGGGGGGGCCCCTGGGGGCCGATGCTGAAACCAGCTATTTAGGCGACTCTTTACCATCTCTGTCAGCAGGGGCAGTCCTGGGTTGGAGGTCCAGAAGACATTGTAGCTTGAAGGGGAGAAGATAAATAGGAAATATTATTCAAGAGAAGGCAGTGGGCATTATAAAGAGAAATACAAAGTGTTCAGGAGTCAGGTTGGGAGGTCTCAGGCAGGGGACATGGAGACTGGTGAAAATGGGAATAACCACCCCTTCCATCCCCCAACATTCTTTTCCCCCAGTTACCTGCCATACTTGGGGGCTGTATCCCCTGGACTGGTTGGTGGCAAAAGTGTAAAGCGGAAGTCACCAAGTTCACTGGTGTGCCCACTGATAAACTTCAACTGCCCCTTGGCCCCAACCTCTGGTAGTAGGACTTCCTTGCCATCTGTCACCACATAGAAGAACAGGGAGACCAAAGGGAGGGCAGAAGTACCTGAGTCCTGAGTGACCAACGAGGACAGAAAAGAACAGTGTTAGATTGGCATTCTCTCTTGAATTCCCTCTTGAGAATCAGCCTTAGTGAGGGAAAGGAACAGTAGGCAGGGGTAATGTAAACAACATACGTCTGGCAGTAATGAGGGTCACTGAGGGTAACCAGGTACACCCAAGCGGGATGAGATAAAGAGCCTTGCACTGGGTGCCCTGGGAGATAACAGTATACTTTTGTACTATGTCCTACACTAAGAACTCTACACAGTTGATTTCATTTAATTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGCGACAATAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACCGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTTTTTTTTTTTTCTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCAGCGCAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTTGGATCACAGGCATGCGCCACCACGCCCGGCTAATTTTATATTTTCAGTAGAGACGGTGTTTCTCCATTTTGGTCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCAGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCTCTTTTTCATTTAATTCTTACAGTCCTGTGAGTTAAGTGCTATTATTATCTACATTGTACATTTTACAAGCAAGGAAATCAAGGCTTAGAGATGGTAAATAGAAATGGTTATACAGGCAGT
Task1_train_3789
This is a variant in HTRA2, LOXL3 (HtrA serine peptidase 2| lysyl oxidase like 3), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; not provided
GTGGTGGCTGCCGATGGGCTCATTGTCACCAACGCCCATGTGGTGGCTGATCGGCGCAGAGTCCGTGTGAGACTGCTAAGCGGCGACACGTATGAGGCCGTGGTCACAGCTGTGGATCCCGTGGCAGACATCGCAACGCTGAGGATTCAGACTAAGGTGGGGGCTGGGGTAGGCCAGGTCTGGTTGGAGCTGCTTATTTGCTCGCATCTTCAGATGACAGGTCTCTTTTACCCATTCTCCCTTAGGAGCCTCTCCCCACGCTGCCTCTGGGACGCTCAGCTGATGTCCGGCAAGGGGAGTTTGTTGTTGCCATGGGAAGTCCCTTTGCACTGCAGAACACGATCACATCCGGCATTGTTAGCTCTGCTCAGCGTCCAGCCAGAGACCTGGGACTCCCCCAAACCAATGTGGAATACATTCAAACTGATGCAGCTATTGATGTGCGTCCTGATAGGAGAGAAATGACAAATGATGGGGGAGGGGGGAGAGGCTGTGTGGTACAAGCACCAACTGATATATGGTGGATGAGCCTATATAGAGCTTAGGCTGCAAAAATGTGGCCACTTATTCATGGGCTGAGAAAGAAGAGAATTTGGAGAAAGTACCTACATCCTGGTATGCCCCCAGACTTAGAATCCCCAGATCTCTTTCATGTTTTCTCCTTGTCCTACAGTTTGGAAACTCTGGAGGTCCCCTGGTTAACCTGGTGAGTGAGACATCCTTCCTTCCAAGAATCCCTGCCCCAGGTCAGTGTGGGAAGGGTAGGTTTCCCCTAATTCAAGGATGTTTGGTCAAGTTTCTGAGCAGTTCTTTGTTGGCTATCTCTCAATATCCAACCAGATCTCCCCAACACTTGCTGGTACTTTTGTTCGGGTGCCCCCATCCCCTACTATTTGTTTAGGCTAGGGAACTGGGGGCTGTATCCCTGCAGGATGGGGAGGTGATTGGAGTGAACACCATGAAGGTCACAGCTGGAATCTCCTTTGCCATCCCTTCTGATCGTCTTCGAGAGTTTCTGCATCGTGGGGAAAAGAAGAGTGAGCCTGCCTTATGGGGAAACGGGTTCCTTTAATGTGGTGGAAATAGGGGAAGGGCATTCAGTGGGACTTCCTGGAGGGTGGTCTACTGGGAGAAGAGGGCAGGGAAGGAAGGATGTAGCTGGGTGGGGCTCATTTGTCCCTCTGTCACAGATTCCTCCTCCGGAATCAGTGGGTCCCAGCGGCGCTACATTGGGGTGATGATGCTGACCCTGAGTCCCAGGTATGAGCTTTAGGGACAGTGACATGTAATGTGACCAGTGTAATCAGAGGGGGGCACCTCTATTGAGCTTTGTTCTCATTTCTGTCTTTATCTAAGATGAACTGTGTCACACTTGAAATAATCACAAGAGCTGTCTCCCTTCATCATCTTGACTTTCTTATCCCACTCCACTTTGTACACCTGTCACCAGATTGATTTCATCCTGTTACTGCTTTGATTTCAAGCCTTCAATCCATTAACTTGGCATTTAAGGGCCATTTTCCATCTGTCTGTAAATCAACTTTCTAGACCTGGCTGTAATACCTTCCTATATGAATACTCAGCCAACCTGATTTCCTACTCCCATGTTTTTTATTTATGCTGTTCTTGTTTTATATGGTTAATATCAGATCCATCCTTTTAGGCTCAACTTAAGTTCTTTCCCCTTAAAGCTTCTCTTAGTATTCTAGAATGACATTAGTGCTATTGATTTAACACTGTTTGTCATTTGGTGCCCTCATGTGGTGTACATCTTTTATGTACATGTTGCACTTTATTGCTAGAAGACAGAAAGTGAGTTGCCATTGTATTTTGTAGTACCTAGCCCATGTCCTGTCCATATATTTATCAATGTGTTGATGAGAGACTTGAGGTGGAACTCAGGATGGGGAGAATGCCTGGGTTTGGCTAATAGGGTGATCTGTGTACTTTCAGCATCCTTGCTGAACTACAGCTTCGAGAACCAAGCTTTCCCGATGTTCAGCATGGTGTACTCATCCATAAAGTCATCCTGGGCTCCCCTGCACACCGGTGAGGGAGAGGCTGCAGTGTGATATGGGGATGGGCAAGGTGTGCATGTGTCCTTGAACTAGGCTTTGTACTCCTTCCTTTCTCTCTGTCCATTTTTCTCTATAGGGCTGGTCTGCGGCCTGGTGATGTGATTTTGGCCATTGGGGAGCAGATGGTACAAAATGCTGAAGATGTTTATGAAGCTGTTCGAACCCAATCCCAGTTGGCAGTGCAGATCCGGCGGGGACGAGAAACACTGACCTTATATGTGACCCCTGAGGTCACAGAATGAATAGATCACCAAGAGTATGAGGCTCCTGCTCTGATTTCCTCCTTGCCTTTCTGGCTGAGGTTCTGAGGGCACCGAGACAGAGGGTTAAATGAACCAGTGGGGGCAGGTCCCTCCAACCACCAGCACTGACTCCTGGGCTCTGAAGAATCACAGAAACACTTTTTATATAAAATAAAATTATACCTAGCAACATATTATAGTAAAAAATGAGGTGGGAGGGCTGGATCTTTTCCCCCACCAAAAGGCTAGAGGTAAAGCTGTATCCCCCTAAACTTAGGGGAGATACTGGAGCTGACCATCCTGACCTCCTATTAAAGAAAATGAGCTGCTGCCATCTTTTGTGGGCAGTTAGTCAGGTGCTGCTCTTTGTGGTGTGGTGGGCTCTGGTCTGTTCTGCTCGGTGCTGGGCCTGGGAGCAAAGATTCCCATGCTTGGCTACAGATACTGACAGCTGGCCTCTGAAGGAGGGTGAAAACTTCTGCTTGACAGTTCCACATCCATAGTGCATGGTCTGATGAGTGCGGTTGCTGACATGGGTTTCTTGGTAAGCTCCTGAGGTAATGGCAGCCTCAGACCCCTGCCATTAGGGGCCAGTGGTGGTTTGCAGAGGGCAGTGGCACTTAGATAATCTGGTTGCTGGTCTGGCCAGGGTAGCGTTCAAACCTCCTGTTGGCCTCTTCACTGAAGGCATCACCTGCAGAGTGGACAGGCAATTTGGGAGGCGCCCTGCACAGAGGGAGGGAGATAGATGCACTGTGGAGAAGGGTGGGTAGAAGTGGAGGGACTGAGAGCTCTACAGGAAGGTGGGAAGATGGAGAAACAAGCTATGGAAAAGAGAATGAACGTCTTTCCCTCCCATCCCCTAATCTTCCTGGGTTGCTCTTCCCATCAAATACCAATGTGGCAGTTGTGCACCCAGATTCTATGTCCATCATATTTGCAGTTACATTTCATTGCATTGTTGGTAAAGTCACTCTCTGCTACTTCAAAGTTTGGGTTGATGACAACCTGTGAGTGAGAAAAAGGCCACTTAACCCAGCGACAATCCTCGAATTCAAAGGTGTCTTTAACGCTCCCCCCACTCACCCATCTGGAAGCCCCAGACTCCAGGTACCTGGAGAATGTAGTTTCCTGGCTTCACATCCGTGATGTCAATCCACTGACAGTCAATGTCATGCCGGTAGAGATCCCAGCAACCCACAGTGATGCCTTGCTCTCCAAAGTTGGCACACTCATACCGCTTGGAGACATCTGGAGGGATTGGCATATGTCAGTGTAAGGAAAGGCTGTGCAATGGATACCATGTGGTTCACTTCAGTCCCCAACTCACCCTCCTGACACTCAGTGTCTTCGAGACAGAAACTAGCTTTGTGGCCCTCAGCCACCTTGGTGCCATTTGGGGTGAGGATATCATAGTGAGTGAAGATGTCCATGCTGTGGTAATGCCTGTGGGGAGAAGGGAACTTCTGTTTCCTTCTCTGCCCCCAGAAGGTTTGCCCCATCCCCCGTGGTCTTGCCCTTCTACTTGACTCCCTACCCTCTCACCCATGGCACTCGTGCCACACCCAGGAGTGGCGCCCAGCCTTGGGCCTGAAGTCAGCTCGTCCCAGGTTGTGGATCTGGGAGGAGAATCGGAGCAGACGCCGGTGACCATAGGGCCAGTTGGCTGAGCGGGCTGAGCTGGCCAGGCAGTTCTCTTCCGCAGCACAGTACAACATATGCAGGGGCCGGTCTTCGATGTAGGCGGTCTCCTGCACCAGTGCTGAGTGCAGCAAC
GTGGTGGCTGCCGATGGGCTCATTGTCACCAACGCCCATGTGGTGGCTGATCGGCGCAGAGTCCGTGTGAGACTGCTAAGCGGCGACACGTATGAGGCCGTGGTCACAGCTGTGGATCCCGTGGCAGACATCGCAACGCTGAGGATTCAGACTAAGGTGGGGGCTGGGGTAGGCCAGGTCTGGTTGGAGCTGCTTATTTGCTCGCATCTTCAGATGACAGGTCTCTTTTACCCATTCTCCCTTAGGAGCCTCTCCCCACGCTGCCTCTGGGACGCTCAGCTGATGTCCGGCAAGGGGAGTTTGTTGTTGCCATGGGAAGTCCCTTTGCACTGCAGAACACGATCACATCCGGCATTGTTAGCTCTGCTCAGCGTCCAGCCAGAGACCTGGGACTCCCCCAAACCAATGTGGAATACATTCAAACTGATGCAGCTATTGATGTGCGTCCTGATAGGAGAGAAATGACAAATGATGGGGGAGGGGGGAGAGGCTGTGTGGTACAAGCACCAACTGATATATGGTGGATGAGCCTATATAGAGCTTAGGCTGCAAAAATGTGGCCACTTATTCATGGGCTGAGAAAGAAGAGAATTTGGAGAAAGTACCTACATCCTGGTATGCCCCCAGACTTAGAATCCCCAGATCTCTTTCATGTTTTCTCCTTGTCCTACAGTTTGGAAACTCTGGAGGTCCCCTGGTTAACCTGGTGAGTGAGACATCCTTCCTTCCAAGAATCCCTGCCCCAGGTCAGTGTGGGAAGGGTAGGTTTCCCCTAATTCAAGGATGTTTGGTCAAGTTTCTGAGCAGTTCTTTGTTGGCTATCTCTCAATATCCAACCAGATCTCCCCAACACTTGCTGGTACTTTTGTTCGGGTGCCCCCATCCCCTACTATTTGTTTAGGCTAGGGAACTGGGGGCTGTATCCCTGCAGGATGGGGAGGTGATTGGAGTGAACACCATGAAGGTCACAGCTGGAATCTCCTTTGCCATCCCTTCTGATCGTCTTCGAGAGTTTCTGCATCGTGGGGAAAAGAAGAGTGAGCCTGCCTTATGGGGAAACGGGTTCCTTTAATGTGGTGGAAATAGGGGAAGGGCATTCAGTGGGACTTCCTGGAGGGTGGTCTACTGGGAGAAGAGGGCAGGGAAGGAAGGATGTAGCTGGGTGGGGCTCATTTGTCCCTCTGTCACAGATTCCTCCTCCGGAATCAGTGGGTCCCAGCGGCGCTACATTGGGGTGATGATGCTGACCCTGAGTCCCAGGTATGAGCTTTAGGGACAGTGACATGTAATGTGACCAGTGTAATCAGAGGGGGGCACCTCTATTGAGCTTTGTTCTCATTTCTGTCTTTATCTAAGATGAACTGTGTCACACTTGAAATAATCACAAGAGCTGTCTCCCTTCATCATCTTGACTTTCTTATCCCACTCCACTTTGTACACCTGTCACCAGATTGATTTCATCCTGTTACTGCTTTGATTTCAAGCCTTCAATCCATTAACTTGGCATTTAAGGGCCATTTTCCATCTGTCTGTAAATCAACTTTCTAGACCTGGCTGTAATACCTTCCTATATGAATACTCAGCCAACCTGATTTCCTACTCCCATGTTTTTTATTTATGCTGTTCTTGTTTTATATGGTTAATATCAGATCCATCCTTTTAGGCTCAACTTAAGTTCTTTCCCCTTAAAGCTTCTCTTAGTATTCTAGAATGACATTAGTGCTATTGATTTAACACTGTTTGTCATTTGGTGCCCTCATGTGGTGTACATCTTTTATGTACATGTTGCACTTTATTGCTAGAAGACAGAAAGTGAGTTGCCATTGTATTTTGTAGTACCTAGCCCATGTCCTGTCCATATATTTATCAATGTGTTGATGAGAGACTTGAGGTGGAACTCAGGATGGGGAGAATGCCTGGGTTTGGCTAATAGGGTGATCTGTGTACTTTCAGCATCCTTGCTGAACTACAGCTTCGAGAACCAAGCTTTCCCGATGTTCAGCATGGTGTACTCATCCATAAAGTCATCCTGGGCTCCCCTGCACACCAGTGAGGGAGAGGCTGCAGTGTGATATGGGGATGGGCAAGGTGTGCATGTGTCCTTGAACTAGGCTTTGTACTCCTTCCTTTCTCTCTGTCCATTTTTCTCTATAGGGCTGGTCTGCGGCCTGGTGATGTGATTTTGGCCATTGGGGAGCAGATGGTACAAAATGCTGAAGATGTTTATGAAGCTGTTCGAACCCAATCCCAGTTGGCAGTGCAGATCCGGCGGGGACGAGAAACACTGACCTTATATGTGACCCCTGAGGTCACAGAATGAATAGATCACCAAGAGTATGAGGCTCCTGCTCTGATTTCCTCCTTGCCTTTCTGGCTGAGGTTCTGAGGGCACCGAGACAGAGGGTTAAATGAACCAGTGGGGGCAGGTCCCTCCAACCACCAGCACTGACTCCTGGGCTCTGAAGAATCACAGAAACACTTTTTATATAAAATAAAATTATACCTAGCAACATATTATAGTAAAAAATGAGGTGGGAGGGCTGGATCTTTTCCCCCACCAAAAGGCTAGAGGTAAAGCTGTATCCCCCTAAACTTAGGGGAGATACTGGAGCTGACCATCCTGACCTCCTATTAAAGAAAATGAGCTGCTGCCATCTTTTGTGGGCAGTTAGTCAGGTGCTGCTCTTTGTGGTGTGGTGGGCTCTGGTCTGTTCTGCTCGGTGCTGGGCCTGGGAGCAAAGATTCCCATGCTTGGCTACAGATACTGACAGCTGGCCTCTGAAGGAGGGTGAAAACTTCTGCTTGACAGTTCCACATCCATAGTGCATGGTCTGATGAGTGCGGTTGCTGACATGGGTTTCTTGGTAAGCTCCTGAGGTAATGGCAGCCTCAGACCCCTGCCATTAGGGGCCAGTGGTGGTTTGCAGAGGGCAGTGGCACTTAGATAATCTGGTTGCTGGTCTGGCCAGGGTAGCGTTCAAACCTCCTGTTGGCCTCTTCACTGAAGGCATCACCTGCAGAGTGGACAGGCAATTTGGGAGGCGCCCTGCACAGAGGGAGGGAGATAGATGCACTGTGGAGAAGGGTGGGTAGAAGTGGAGGGACTGAGAGCTCTACAGGAAGGTGGGAAGATGGAGAAACAAGCTATGGAAAAGAGAATGAACGTCTTTCCCTCCCATCCCCTAATCTTCCTGGGTTGCTCTTCCCATCAAATACCAATGTGGCAGTTGTGCACCCAGATTCTATGTCCATCATATTTGCAGTTACATTTCATTGCATTGTTGGTAAAGTCACTCTCTGCTACTTCAAAGTTTGGGTTGATGACAACCTGTGAGTGAGAAAAAGGCCACTTAACCCAGCGACAATCCTCGAATTCAAAGGTGTCTTTAACGCTCCCCCCACTCACCCATCTGGAAGCCCCAGACTCCAGGTACCTGGAGAATGTAGTTTCCTGGCTTCACATCCGTGATGTCAATCCACTGACAGTCAATGTCATGCCGGTAGAGATCCCAGCAACCCACAGTGATGCCTTGCTCTCCAAAGTTGGCACACTCATACCGCTTGGAGACATCTGGAGGGATTGGCATATGTCAGTGTAAGGAAAGGCTGTGCAATGGATACCATGTGGTTCACTTCAGTCCCCAACTCACCCTCCTGACACTCAGTGTCTTCGAGACAGAAACTAGCTTTGTGGCCCTCAGCCACCTTGGTGCCATTTGGGGTGAGGATATCATAGTGAGTGAAGATGTCCATGCTGTGGTAATGCCTGTGGGGAGAAGGGAACTTCTGTTTCCTTCTCTGCCCCCAGAAGGTTTGCCCCATCCCCCGTGGTCTTGCCCTTCTACTTGACTCCCTACCCTCTCACCCATGGCACTCGTGCCACACCCAGGAGTGGCGCCCAGCCTTGGGCCTGAAGTCAGCTCGTCCCAGGTTGTGGATCTGGGAGGAGAATCGGAGCAGACGCCGGTGACCATAGGGCCAGTTGGCTGAGCGGGCTGAGCTGGCCAGGCAGTTCTCTTCCGCAGCACAGTACAACATATGCAGGGGCCGGTCTTCGATGTAGGCGGTCTCCTGCACCAGTGCTGAGTGCAGCAAC
Task1_train_3790
An alteration has been detected in SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Mitochondrial DNA depletion syndrome 9
AGAATTGTCTGAGTGTCCAGTATAGAAGGCCCTGCTCAGAAAGTTTTATCTTTCATGTTTTCTCAAAAAATTCACCTTTGAAAAAATAAAAATAACTTCTGAAACAAGCCTCTGATATTAAGAGCAAAGAGCTATGTTTTTCCAAACCCAAACTTACTGAATTATGTTGCTTCAAAAATTCTGCAGCATTCTCTTCTGCATTACCACCAATTTCACCAATCAATATGATGCCTTCTGTGGCAGAATCGTTCAAAAAGATTTCGAGGCAGTCAATAAAATCTGTTCCATTAAAAGGATCACCTCCAATGCCTGAAAAAGTTGAAAAATATCAATAGCTGGAAATTTAAGGGTGAACCATGGAATTTAGGTCAATAAATGTTTTTAACTAGTTTGTCATTTTTCTTACCCTTCTCTCTTATATTTTTAAATGTATCATTGCTCTTGCATTTAATATTTAAAAAATCACAAAATGCTACATTTATTTCTGTTGGTAATATTATATAAATGCTAAATGGTGGTTGGTTCCTGATATTCTAGGAATATTCTAGGGCTGTAACGAAGACAACCCTCTTTTTGTTTTAGCTCCTTTATCAAGCCTCTTCTGTCCCACAAAATTATTCCCAGATAACTCCTTAGAAATGAACATTTTAAGAAAATGTGTATCTGTGTTGCATGCTGATGTTACACCAGAGGAAAGAATAAACATTTAACAAATTTCTTTGAGTAAAGAAACTATTTGATGAAGTATGCTGCAGATAAATCACCCACAAGTTTTAAGACACAAGTGCCAGTGAGTGACAGTGAGTACCCTGACTGCTCGTGTTCTGGATCCAGAGTGGATGATGACAGAGCATGCATATCAGAGCCATACTACACACCACATTTAAGAACAAATTCATGGACAGGGTTAAAGTAAATGTTCCCTACAGACAGGCTGCCGTTTTTTATTTTTAAATTACAAACTTACTGAGGGCAGGATTGATTTCTTTCTTTTCACTGCATCTCTGAAAAATGGAGTGGAAGAAGAGAACCGGCATTTATTAAGTGCCAACCGTGTGTCAAGTCCTATGCTTTGGCACACGTTAGATCTGTCATTTCCTAATTTTCTCAACTTCTCTGTGAGATAGGCATTATTATCCTCCACTTACAAATTCAAAACTGAAGCTGGAAAAGAAGGAATCGGTAAGCCTGTTTCAAACCTTTTCTTATTCTCTGTCACACTAAAAAGTATCTTCCACTTATATTGTGCTTTGCATGTACAAATGCTCAATTAATGTTTTCAATATTTAATTTATGAATTTGAATCTTAATAAAAACACTCCAGAGCTATATGTTACTTTTTCGTAAAGATAATTCTAAAACATTAACAGGTATTCTAAGAACTTGAAAGAATATTTATTAATATGAAAAGGAGGAATTTGCCTTGGCTTTTGGCAACAAATAATGAAATTATTTTAAAATGTAAAAATTTGTAATTTTTACTTTTTCAAATGGGAGGCAGTATAGTGTGATAAAAAGAGAGGTTCTGAGGAAATGAACCTTCCTCAACCTTGACTTTCTCACCAATAAGGCTCTAACAGTACAATTTTCCAGCTCAGAGGCACCTGAGAGGCTTCCCTCAAGAATGAGACACTGAATGGCAAAGAATTCAGTAACTATAAAGCACTGATGAACATAATGGCAATGATAACAAAAGTCCTAATATAAGGAACCATTTCTTCAGAGCAATCAAACCAAGTGATGTTTTCAGGCACCAAGGTGCTTCGGGAGCCACGTGTTCCAAGATGTTAGTTCTTCAACCTAGAAATGAAATCTTGGACCATGAATCTTGAAACAACTACAGAATAACTTTACACTTAAGCAAATTAAATTTGAGATCGTAACATCCTTTTCATAAGAGTATCAAAATCTTTTGCAAATAATAAAATCAATAATTATTATTATACTCATCCAATGAAGACACCACACTCCAATAAAATGATTTTAGCAAAAGTCCCTCACCAACGCACAAAGACTGCCCCAATCCAACTTGCGTTGTTTGGTGAACTGCTTCATAAGTCAGGGTGCCAGATCTGGACACAATGCCTTAACGAAAGAGAATTCAAAAATATTAGATTGTGTTTCTATGTTAGACTAAAACATGGTAAACTAAATTACCAAACACTTCGAGTGACTAACATAGGTATAAAATTCATTCCATGATTTGCCATCAAAATCAATAGTATCTTCAAACGATGAAATGAAAAGGAAAGGCTTAAATTCAAGCAGGGGGGTTTTTTAATTTAGACAAAGGAGAAAGTATATTATTAGTTAAGGTTATTTTATGACTATAAAAACAATGCAAGAAAGACTTAAATTACCTCTTCTGAGAATCTTTATGAAGAAGCTAGTATCAGTATAAATTTGGTAGGTACTAATCATACCTACAGTGGCAGAATGTAATAGATTAGACTTATACTACCTTATGTAGTCTGGGTATTTGTCCCCTCCAAATCTCAGGTTGAAATGTGATGCCCAGTGTTGGAGGTGGGGCCCGGTGGGAGGTGTTTGGGTCATGGGGATAGATCCTTCATGAATGGCTTAGTGACCTCTCCATGGTAATGAGTGAGTTCTCACTCTGTTCCTTTACATGAGAGCTGGTTCTTGAAAAGATCCTGGCCTCTCTCATTCCCTCTCTCACCATGTGACACGTCTACTCCCCCTTCACCTTCTGCCATGAGTAAAAGATTCCTGAGGCCTCACCAGAAGCTGAACAGATGCTAGCACCATGCATGTATAGCCTGCAGAATCATAAGCCAAACAAATCTCTTTTACTTATAAATCATCCAGGCTCAGATATTCCTTTGTAGCAATATAAAACAGAATAATACAGTACCCAAACTATTAAACCATCAAAACTAGCATTAGTCACATTTTAAAATACTACCTATCTTCTCCACAACTATTTTCCCAATGATTTTCAACCAATATATAGGCTTTAAAATCAATATAAAGAAAACTGGGGAATAAGGTCAAGATCCCTCTGGAATCAAGTCTCCCACCTAATTTCCTTTATAAATGGACCTGTGTGAAAGCACTTAATTTCACATCTGGATTAGGTGTGCGCCGAGGGAGGAGAGCCAGTGGGGGCCAGGGAGGAGTGACAGTTAGATGTCTTCTCTTGTAGTTTACTATGCTTGGCTGAGCTTCCAGAAAGGTAATTTATTCAAAGCCACAATCTATGTAATACTTTAGACAAACAAAAAAATTAATCCAGGGTGTCCATGGTTTACTTTCCTTAAACTCCTGCCTTGGAGCAACTCTGAAGAACTCAGAAGACCCTTTTCTAACAATATGATCACCCTACCAGGGCAGGTAGAATTCTTGTCAACCTGAGACAAAAACCATAACTATAAGTTACCTCAACTTCCGTGCTACATGTTTACACTCTTAAACAAAGTGCTATGTCACCATTATTGTATACTAATGCGTACTAAGTGTGTGACCTATGCATAAACACATCTTCTCACTATGAATTTGGGCACACAATAACTTCAGGTTCTACATACCAAATTCAAAGTCAAATTCAAAGAATGGTGTGTACGTAACTTAGTCATTGCTAAGCAGACCCTACAGAACACTGTCAGATTGCTCTTTTAGATGCATTTCACTAGACAGTGACAACTAAATCCTCGACGATGCCTCACTTCACGTGGAACTCTGCTCTAACTCGCCAGCCCAGCAGAGTCCCAGCTTCCCTCTCCAGACTTGTTTCTTACTATTTCCCTACCTAGTGAAACTGGGTTATTCCTCATTGATATTTCATGCTCTCCTATCTTTTCATATTTGTTCTGCTTAAGATGGAGTGTTTCACCTCCACCATCTGACAAAACTTCTAATCATCCTTCAAGGTCCACATTAAATGCTACTTTCTCTTTGAGGTCTTTCCTGATCACCCCCAAAGAGAAGTGAGATATAATTTCCTTCTCTAAATCTCCTCAATGCTTTCATATTTCCTACTGCCCTCATTACTAAGAAATAAGCAGAAGTTATATCTTCCCTACCACTGTGAGAGTATTTCTGGGGTAGAAACAACGTCATTCATTGAATGGTTCAC
AGAATTGTCTGAGTGTCCAGTATAGAAGGCCCTGCTCAGAAAGTTTTATCTTTCATGTTTTCTCAAAAAATTCACCTTTGAAAAAATAAAAATAACTTCTGAAACAAGCCTCTGATATTAAGAGCAAAGAGCTATGTTTTTCCAAACCCAAACTTACTGAATTATGTTGCTTCAAAAATTCTGCAGCATTCTCTTCTGCATTACCACCAATTTCACCAATCAATATGATGCCTTCTGTGGCAGAATCGTTCAAAAAGATTTCGAGGCAGTCAATAAAATCTGTTCCATTAAAAGGATCACCTCCAATGCCTGAAAAAGTTGAAAAATATCAATAGCTGGAAATTTAAGGGTGAACCATGGAATTTAGGTCAATAAATGTTTTTAACTAGTTTGTCATTTTTCTTACCCTTCTCTCTTATATTTTTAAATGTATCATTGCTCTTGCATTTAATATTTAAAAAATCACAAAATGCTACATTTATTTCTGTTGGTAATATTATATAAATGCTAAATGGTGGTTGGTTCCTGATATTCTAGGAATATTCTAGGGCTGTAACGAAGACAACCCTCTTTTTGTTTTAGCTCCTTTATCAAGCCTCTTCTGTCCCACAAAATTATTCCCAGATAACTCCTTAGAAATGAACATTTTAAGAAAATGTGTATCTGTGTTGCATGCTGATGTTACACCAGAGGAAAGAATAAACATTTAACAAATTTCTTTGAGTAAAGAAACTATTTGATGAAGTATGCTGCAGATAAATCACCCACAAGTTTTAAGACACAAGTGCCAGTGAGTGACAGTGAGTACCCTGACTGCTCGTGTTCTGGATCCAGAGTGGATGATGACAGAGCATGCATATCAGAGCCATACTACACACCACATTTAAGAACAAATTCATGGACAGGGTTAAAGTAAATGTTCCCTACAGACAGGCTGCCGTTTTTTATTTTTAAATTACAAACTTACTGAGGGCAGGATTGATTTCTTTCTTTTCACTGCATCTCTGAAAAATGGAGTGGAAGAAGAGAACCGGCATTTATTAAGTGCCAACCGTGTGTCAAGTCCTATGCTTTGGCACACGTTAGATCTGTCATTTCCTAATTTTCTCAACTTCTCTGTGAGATAGGCATTATTATCCTCCACTTACAAATTCAAAACTGAAGCTGGAAAAGAAGGAATCGGTAAGCCTGTTTCAAACCTTTTCTTATTCTCTGTCACACTAAAAAGTATCTTCCACTTATATTGTGCTTTGCATGTACAAATGCTCAATTAATGTTTTCAATATTTAATTTATGAATTTGAATCTTAATAAAAACACTCCAGAGCTATATGTTACTTTTTCGTAAAGATAATTCTAAAACATTAACAGGTATTCTAAGAACTTGAAAGAATATTTATTAATATGAAAAGGAGGAATTTGCCTTGGCTTTTGGCAACAAATAATGAAATTATTTTAAAATGTAAAAATTTGTAATTTTTACTTTTTCAAATGGGAGGCAGTATAGTGTGATAAAAAGAGAGGTTCTGAGGAAATGAACCTTCCTCAACCTTGACTTTCTCACCAATAAGGCTCTAACAGTACAATTTTCCAGCTCAGAGGCACCTGAGAGGCTTCCCTCAAGAATGAGACACTGAATGGCAAAGAATTCAGTAACTATAAAGCACTGATGAACATAATGGCAATGATAACAAAAGTCCTAATATAAGGAACCATTTCTTCAGAGCAATCAAACCAAGTGATGTTTTCAGGCACCAAGGTGCTTCGGGAGCCACGTGTTCCAAGATGTTAGTTCTTCAACCTAGAAATGAAATCTTGGACCATGAATCTTGAAACAACTACAGAATAACTTTACACTTAAGCAAATTAAATTTGAGATCGTAACATCCTTTTCATAAGAGTATCAAAATCTTTTGCAAATAATAAAATCAATAATTATTATTATACTCATCCAATGAAGACACCACACTCCAATAAAATGATTTTAGCAAAAGTCCCTCACCAACGCACAAAGACTGCCCCAATCCAACTTGCGTTGTTTGGTGAACTTCTTCATAAGTCAGGGTGCCAGATCTGGACACAATGCCTTAACGAAAGAGAATTCAAAAATATTAGATTGTGTTTCTATGTTAGACTAAAACATGGTAAACTAAATTACCAAACACTTCGAGTGACTAACATAGGTATAAAATTCATTCCATGATTTGCCATCAAAATCAATAGTATCTTCAAACGATGAAATGAAAAGGAAAGGCTTAAATTCAAGCAGGGGGGTTTTTTAATTTAGACAAAGGAGAAAGTATATTATTAGTTAAGGTTATTTTATGACTATAAAAACAATGCAAGAAAGACTTAAATTACCTCTTCTGAGAATCTTTATGAAGAAGCTAGTATCAGTATAAATTTGGTAGGTACTAATCATACCTACAGTGGCAGAATGTAATAGATTAGACTTATACTACCTTATGTAGTCTGGGTATTTGTCCCCTCCAAATCTCAGGTTGAAATGTGATGCCCAGTGTTGGAGGTGGGGCCCGGTGGGAGGTGTTTGGGTCATGGGGATAGATCCTTCATGAATGGCTTAGTGACCTCTCCATGGTAATGAGTGAGTTCTCACTCTGTTCCTTTACATGAGAGCTGGTTCTTGAAAAGATCCTGGCCTCTCTCATTCCCTCTCTCACCATGTGACACGTCTACTCCCCCTTCACCTTCTGCCATGAGTAAAAGATTCCTGAGGCCTCACCAGAAGCTGAACAGATGCTAGCACCATGCATGTATAGCCTGCAGAATCATAAGCCAAACAAATCTCTTTTACTTATAAATCATCCAGGCTCAGATATTCCTTTGTAGCAATATAAAACAGAATAATACAGTACCCAAACTATTAAACCATCAAAACTAGCATTAGTCACATTTTAAAATACTACCTATCTTCTCCACAACTATTTTCCCAATGATTTTCAACCAATATATAGGCTTTAAAATCAATATAAAGAAAACTGGGGAATAAGGTCAAGATCCCTCTGGAATCAAGTCTCCCACCTAATTTCCTTTATAAATGGACCTGTGTGAAAGCACTTAATTTCACATCTGGATTAGGTGTGCGCCGAGGGAGGAGAGCCAGTGGGGGCCAGGGAGGAGTGACAGTTAGATGTCTTCTCTTGTAGTTTACTATGCTTGGCTGAGCTTCCAGAAAGGTAATTTATTCAAAGCCACAATCTATGTAATACTTTAGACAAACAAAAAAATTAATCCAGGGTGTCCATGGTTTACTTTCCTTAAACTCCTGCCTTGGAGCAACTCTGAAGAACTCAGAAGACCCTTTTCTAACAATATGATCACCCTACCAGGGCAGGTAGAATTCTTGTCAACCTGAGACAAAAACCATAACTATAAGTTACCTCAACTTCCGTGCTACATGTTTACACTCTTAAACAAAGTGCTATGTCACCATTATTGTATACTAATGCGTACTAAGTGTGTGACCTATGCATAAACACATCTTCTCACTATGAATTTGGGCACACAATAACTTCAGGTTCTACATACCAAATTCAAAGTCAAATTCAAAGAATGGTGTGTACGTAACTTAGTCATTGCTAAGCAGACCCTACAGAACACTGTCAGATTGCTCTTTTAGATGCATTTCACTAGACAGTGACAACTAAATCCTCGACGATGCCTCACTTCACGTGGAACTCTGCTCTAACTCGCCAGCCCAGCAGAGTCCCAGCTTCCCTCTCCAGACTTGTTTCTTACTATTTCCCTACCTAGTGAAACTGGGTTATTCCTCATTGATATTTCATGCTCTCCTATCTTTTCATATTTGTTCTGCTTAAGATGGAGTGTTTCACCTCCACCATCTGACAAAACTTCTAATCATCCTTCAAGGTCCACATTAAATGCTACTTTCTCTTTGAGGTCTTTCCTGATCACCCCCAAAGAGAAGTGAGATATAATTTCCTTCTCTAAATCTCCTCAATGCTTTCATATTTCCTACTGCCCTCATTACTAAGAAATAAGCAGAAGTTATATCTTCCCTACCACTGTGAGAGTATTTCTGGGGTAGAAACAACGTCATTCATTGAATGGTTCAC
Task1_train_3791
This variant affects the gene SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Mitochondrial DNA depletion syndrome 9
ATTAAAAGCAGTCTCCCAGACGACTGTCTCATCAATGGGTTATGACCATTCACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGAAATTATCAAGTACTGCCACTGGCAGCAGGGCTGACAGCTCCAAGAGACATTGGTAATAAAGAAAAATCATGATCTTTAACCCAATTCTGTAAACTGCACAGCCGACACCCACTGTGACAATTAATTACCCTTATTAGTAGCCATGGTTTATAGATAGAGAAAAATATGGTCAATCATCTTTCATGACTGAAAAACAGTATAGTTTAGAGAAATTTTGGTGTAAAGCCTAAACACAAGCCTAATGTGGCTAACTTTGAAATGTTACTTTGGCTATTTCCTCAAGGAACTAACCAAGTAGCAGGGCAATTTTCCTGACAGGCCATCTGAGTTCCCTTTCTGATCACTGCCCTGCTTTCTAAGGTGCCTACAAACCTAAAACATTTTGAGAAAGTTTGTGATATCTAAAAGAACAAGGTAATTATTGAGCAGGTATGTGAATGGCCTTATAAGCACATGAAAAGGTGCTCTACATTATTAGTCATCAGGGACACTCAAAACCACAAGAGATACCATTTTACTCTCAGTAGAATGGCTACATTTAAAAAGGCTAATAGCCGGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCCAGCAGATCACCTGAGGTCGGGAGTTCGAGGCCAGCCTGACCAACATGGAGAAACCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTGGGGGTAAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAAACTCTGTCTCAAAAAAATGAAGACTAACAATACCAAATCTTTGTGAAGATATGGAGCAAGTGGAACTCTCCTACATTAATGGTGAAAATATAAAATGATATAGCCACTTTGCAGAACTATTTGGCAGTTTCTTATAAAGTTAAATATACTTGACTTATGTTCATATGAACATGACTTAGCAATTCCATTCCTACACATTTTGCCCAAGAGAAACGAAAATGTTTCCACAAAAAGACCTGTACACAAATGTTGACCTAAGCCTTGTTTGTAAGGCTCAAACATGAAAACAACCCAAATGTTCATTAATGGGAGAATGAATAAACAAACTGTGGTATAATTATACAACAGAATACTCCTTAGCAATAACTAAGTTATAACAGTTAATGAAATTAACTACTGATATATGCAAACACATGGAGTAATCCACAGAGTGCTGAGCAGAAAAAAATCTTTAAACTCCCACCACCAAAAAAATCTTCACTGATTCTGCAGAATTGTAACGGCTTCTCAAATAAACTCATTATATTCAAGATACAGAATTGATAGACTACAAAACTTCCCTGGTAAATTCTACTCAAGTCAAATTAATTAAACTTGATTTGCAAAGTCAAAAATTCTTTGTGAGTTTTGAGGGTTTAAGGCAAATAACGTTTTAATCTATAAGAATGTAACAAACAAACTCACCAATCCTTCCTTTTTTGTGAATATGGCCAGGCATGATGCCAATTTTACATTCTCCAGGCTGAAAGTAATCATAGTTTTCAGAAATGTTAAAAAAAAAAGTCACTCACAGGTCATACACACAAATACACTCGCATTCACTCAAAGCTGTTTAGCCTTGTGAGAGGCTTAATCTGAGTTTCTTTTTGTTTTTTTGCACTCACATTGATGACTCCAGGGCAGTTGGGCCCAATTAGCCTTGTCTTTTCCTGGCGCAGCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAG
ATTAAAAGCAGTCTCCCAGACGACTGTCTCATCAATGGGTTATGACCATTCACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGAAATTATCAAGTACTGCCACTGGCAGCAGGGCTGACAGCTCCAAGAGACATTGGTAATAAAGAAAAATCATGATCTTTAACCCAATTCTGTAAACTGCACAGCCGACACCCACTGTGACAATTAATTACCCTTATTAGTAGCCATGGTTTATAGATAGAGAAAAATATGGTCAATCATCTTTCATGACTGAAAAACAGTATAGTTTAGAGAAATTTTGGTGTAAAGCCTAAACACAAGCCTAATGTGGCTAACTTTGAAATGTTACTTTGGCTATTTCCTCAAGGAACTAACCAAGTAGCAGGGCAATTTTCCTGACAGGCCATCTGAGTTCCCTTTCTGATCACTGCCCTGCTTTCTAAGGTGCCTACAAACCTAAAACATTTTGAGAAAGTTTGTGATATCTAAAAGAACAAGGTAATTATTGAGCAGGTATGTGAATGGCCTTATAAGCACATGAAAAGGTGCTCTACATTATTAGTCATCAGGGACACTCAAAACCACAAGAGATACCATTTTACTCTCAGTAGAATGGCTACATTTAAAAAGGCTAATAGCCGGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCCAGCAGATCACCTGAGGTCGGGAGTTCGAGGCCAGCCTGACCAACATGGAGAAACCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTGGGGGTAAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAAACTCTGTCTCAAAAAAATGAAGACTAACAATACCAAATCTTTGTGAAGATATGGAGCAAGTGGAACTCTCCTACATTAATGGTGAAAATATAAAATGATATAGCCACTTTGCAGAACTATTTGGCAGTTTCTTATAAAGTTAAATATACTTGACTTATGTTCATATGAACATGACTTAGCAATTCCATTCCTACACATTTTGCCCAAGAGAAACGAAAATGTTTCCACAAAAAGACCTGTACACAAATGTTGACCTAAGCCTTGTTTGTAAGGCTCAAACATGAAAACAACCCAAATGTTCATTAATGGGAGAATGAATAAACAAACTGTGGTATAATTATACAACAGAATACTCCTTAGCAATAACTAAGTTATAACAGTTAATGAAATTAACTACTGATATATGCAAACACATGGAGTAATCCACAGAGTGCTGAGCAGAAAAAAATCTTTAAACTCCCACCACCAAAAAAATCTTCACTGATTCTGCAGAATTGTAACGGCTTCTCAAATAAACTCATTATATTCAAGATACAGAATTGATAGACTACAAAACTTCCCTGGTAAATTCTACTCAAGTCAAATTAATTAAACTTGATTTGCAAAGTCAAAAATTCTTTGTGAGTTTTGAGGGTTTAAGGCAAATAACGTTTTAATCTATAAGAATGTAACAAACAAACTCACCAATCCTTCCTTTTTTGTGAATATGGCCAGGCATGATGCCAATTTTACATTCTCCAGGCTGAAAGTAATCATAGTTTTCAGAAATGTTAAAAAAAAAAGTCACTCACAGGTCATACACACAAATACACTCGCATTCACTCAAAGCTGTTTAGCCTTGTGAGAGGCTTAATCTGAGTTTCTTTTTGTTTTTTTGCACTCACATTGATGACTCCAGGGCAGTTGCGCCCAATTAGCCTTGTCTTTTCCTGGCGCAGCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAG
Task1_train_3792
Consider this mutation in SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha) on Chromosome 2. Is this a benign change or a disease-causing variant?
Pathogenic; Mitochondrial DNA depletion syndrome 9
ACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGAAATTATCAAGTACTGCCACTGGCAGCAGGGCTGACAGCTCCAAGAGACATTGGTAATAAAGAAAAATCATGATCTTTAACCCAATTCTGTAAACTGCACAGCCGACACCCACTGTGACAATTAATTACCCTTATTAGTAGCCATGGTTTATAGATAGAGAAAAATATGGTCAATCATCTTTCATGACTGAAAAACAGTATAGTTTAGAGAAATTTTGGTGTAAAGCCTAAACACAAGCCTAATGTGGCTAACTTTGAAATGTTACTTTGGCTATTTCCTCAAGGAACTAACCAAGTAGCAGGGCAATTTTCCTGACAGGCCATCTGAGTTCCCTTTCTGATCACTGCCCTGCTTTCTAAGGTGCCTACAAACCTAAAACATTTTGAGAAAGTTTGTGATATCTAAAAGAACAAGGTAATTATTGAGCAGGTATGTGAATGGCCTTATAAGCACATGAAAAGGTGCTCTACATTATTAGTCATCAGGGACACTCAAAACCACAAGAGATACCATTTTACTCTCAGTAGAATGGCTACATTTAAAAAGGCTAATAGCCGGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCCAGCAGATCACCTGAGGTCGGGAGTTCGAGGCCAGCCTGACCAACATGGAGAAACCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTGGGGGTAAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAAACTCTGTCTCAAAAAAATGAAGACTAACAATACCAAATCTTTGTGAAGATATGGAGCAAGTGGAACTCTCCTACATTAATGGTGAAAATATAAAATGATATAGCCACTTTGCAGAACTATTTGGCAGTTTCTTATAAAGTTAAATATACTTGACTTATGTTCATATGAACATGACTTAGCAATTCCATTCCTACACATTTTGCCCAAGAGAAACGAAAATGTTTCCACAAAAAGACCTGTACACAAATGTTGACCTAAGCCTTGTTTGTAAGGCTCAAACATGAAAACAACCCAAATGTTCATTAATGGGAGAATGAATAAACAAACTGTGGTATAATTATACAACAGAATACTCCTTAGCAATAACTAAGTTATAACAGTTAATGAAATTAACTACTGATATATGCAAACACATGGAGTAATCCACAGAGTGCTGAGCAGAAAAAAATCTTTAAACTCCCACCACCAAAAAAATCTTCACTGATTCTGCAGAATTGTAACGGCTTCTCAAATAAACTCATTATATTCAAGATACAGAATTGATAGACTACAAAACTTCCCTGGTAAATTCTACTCAAGTCAAATTAATTAAACTTGATTTGCAAAGTCAAAAATTCTTTGTGAGTTTTGAGGGTTTAAGGCAAATAACGTTTTAATCTATAAGAATGTAACAAACAAACTCACCAATCCTTCCTTTTTTGTGAATATGGCCAGGCATGATGCCAATTTTACATTCTCCAGGCTGAAAGTAATCATAGTTTTCAGAAATGTTAAAAAAAAAAGTCACTCACAGGTCATACACACAAATACACTCGCATTCACTCAAAGCTGTTTAGCCTTGTGAGAGGCTTAATCTGAGTTTCTTTTTGTTTTTTTGCACTCACATTGATGACTCCAGGGCAGTTGGGCCCAATTAGCCTTGTCTTTTCCTGGCGCAGCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAGATGTGTCTGGCCTCCTTTCCCTGGAGTGGTTCCTCCAACGAGTTTGGTGCC
ACAAAGGCAAGGTCTAAAGGACTTCCCTGAACTTCTCTTGATTTTCATTTTTTAGGTTTATGCTCACCTTAGAAAGCAGAGCAGTGATCAGAAAGGCAACTCAGCACAGAGCATTCCTTCCATGCTCACCTTAAGACCACAGCCTTCAAAACAGACCCAAGAATATAAGAAATATTCAAATATGTACAAGAGCATCAGTGATACATGGATCTGGCCCCACTGGAACTCAGATGGCCTATGGAGCTCCCTGAAATCTCTCTTGTAAATGAAATTATCAAGTACTGCCACTGGCAGCAGGGCTGACAGCTCCAAGAGACATTGGTAATAAAGAAAAATCATGATCTTTAACCCAATTCTGTAAACTGCACAGCCGACACCCACTGTGACAATTAATTACCCTTATTAGTAGCCATGGTTTATAGATAGAGAAAAATATGGTCAATCATCTTTCATGACTGAAAAACAGTATAGTTTAGAGAAATTTTGGTGTAAAGCCTAAACACAAGCCTAATGTGGCTAACTTTGAAATGTTACTTTGGCTATTTCCTCAAGGAACTAACCAAGTAGCAGGGCAATTTTCCTGACAGGCCATCTGAGTTCCCTTTCTGATCACTGCCCTGCTTTCTAAGGTGCCTACAAACCTAAAACATTTTGAGAAAGTTTGTGATATCTAAAAGAACAAGGTAATTATTGAGCAGGTATGTGAATGGCCTTATAAGCACATGAAAAGGTGCTCTACATTATTAGTCATCAGGGACACTCAAAACCACAAGAGATACCATTTTACTCTCAGTAGAATGGCTACATTTAAAAAGGCTAATAGCCGGGCATGGTAGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCCAGCAGATCACCTGAGGTCGGGAGTTCGAGGCCAGCCTGACCAACATGGAGAAACCCGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTGGGGGTAAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCGACAGAGCAAAACTCTGTCTCAAAAAAATGAAGACTAACAATACCAAATCTTTGTGAAGATATGGAGCAAGTGGAACTCTCCTACATTAATGGTGAAAATATAAAATGATATAGCCACTTTGCAGAACTATTTGGCAGTTTCTTATAAAGTTAAATATACTTGACTTATGTTCATATGAACATGACTTAGCAATTCCATTCCTACACATTTTGCCCAAGAGAAACGAAAATGTTTCCACAAAAAGACCTGTACACAAATGTTGACCTAAGCCTTGTTTGTAAGGCTCAAACATGAAAACAACCCAAATGTTCATTAATGGGAGAATGAATAAACAAACTGTGGTATAATTATACAACAGAATACTCCTTAGCAATAACTAAGTTATAACAGTTAATGAAATTAACTACTGATATATGCAAACACATGGAGTAATCCACAGAGTGCTGAGCAGAAAAAAATCTTTAAACTCCCACCACCAAAAAAATCTTCACTGATTCTGCAGAATTGTAACGGCTTCTCAAATAAACTCATTATATTCAAGATACAGAATTGATAGACTACAAAACTTCCCTGGTAAATTCTACTCAAGTCAAATTAATTAAACTTGATTTGCAAAGTCAAAAATTCTTTGTGAGTTTTGAGGGTTTAAGGCAAATAACGTTTTAATCTATAAGAATGTAACAAACAAACTCACCAATCCTTCCTTTTTTGTGAATATGGCCAGGCATGATGCCAATTTTACATTCTCCAGGCTGAAAGTAATCATAGTTTTCAGAAATGTTAAAAAAAAAAGTCACTCACAGGTCATACACACAAATACACTCGCATTCACTCAAAGCTGTTTAGCCTTGTGAGAGGCTTAATCTGAGTTTCTTTTTGTTTTTTTGCACTCACATTGATGACTCCAGGGCAGTTGGGCCCAATTAGCCTTGTCTTTTCCTGGCGCAGCAGTTTGTGCTTGACTCGTTCCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAGATGTGTCTGGCCTCCTTTCCCTGGAGTGGTTCCTCCAACGAGTTTGGTGCC
Task1_train_3793
Located on Chromosome 2, this mutation impacts SUCLG1 (succinate-CoA ligase GDP/ADP-forming subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Mitochondrial DNA depletion syndrome 9
GCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAGATGTGTCTGGCCTCCTTTCCCTGGAGTGGTTCCTCCAACGAGTTTGGTGCCATATTCCAATGCCTGCTGGCTGTGAAAGGTGCCCTGAGGGGAAAAAGCACAAGATCCATGAGAAACAGCAGACTGGTAAGCCCAAGAGAAGCAAAAGCAATCTTAGCAACTTAGGAAAAGAAAAACAAATAGGTTAACTATTCCCAGACAATAACATATATTTACTAAACATAGCTTTGAATCTTGAAGCAAAACAAGCCTCTGAAAAGCCAAAATAGCTATAAACAAGGCCTCTTTGATTCCCTGTTTTCAAACTTGGCTGATAACCAGAAACTCCCTGTTTCTCAACTCCTCATGTGCTCACACTCCTCAGTTTAAAATTCATGGTAGATCATTACCCTCCCACAACAATCTTGGCTTTCTCTCACTTCAACTTAAATATCTGGCAAAACCACAACCTGGGTCAAATCCAATTTTTCCCCTACTTCTAAGCCTATACATGTGCAGCCAAAAAGTGGCTAAGGGAAAAAAAAACAAAAAAACATGTCAACTGGTCTCATTTTAAATTAATGATCACTCACCTTAAGTAAGCCTTCAATACTGCCCACCCACCAACCTGTATTTCTCTATCCATTCACTTTTCCTCCTCAACCTCAGCATTATTGACATTTTGGACAGGATGATTCTTTCTTATGAGAGGTCATCCAGTGCCTAGTGGGACATTTAGCAGCATCCATGGGCTCCACTCATTAGATGCCAGTAGCACACCCTCCTAACTCTCATAATTCCATCCAGTTAATGACAACCAAAAACAGCTCCAAGGACTGATTCATTTTCACTAGGCTTCTGGGGCTTGACTTCCCCTGGTTTTCCTCTTCTCTTTCTCTCTCCTTAGTATTGGGGGAAATTCAGCCAGATATTGGGCAAAATTCACCCCCGATATTTCACTTAGGTTCTTTTCCATATTCCCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGACAGAGTACAAAAGAGAGAAATTTTAAAGCTGGGTGTCCGGGGAAGACATCACATGTCGGCAGGTTCCATGATGCCCCCTAAGCCGTAAAACCAGCAAGTTTTTATTAGTGATTTTCAAAAGGGGAGGGAGTGTACAAATAGGGTGTGGGTCACAGAGATCATGTGCTTCACAAGGTAATAGAATATCACAAGGCAAATGGAGGCAGGGTGAGATCACAGGACCACAGGACCACAGGACCGGGGCGAAATTAAAATTGCTAATGAAGTTTCCAGCACGCATTGCATTGATAATATCTTATCAGGAGACAGGCTTTGAGAGCAGACAACCGGTCTGACCAAAAATTATTAGGCGGGAATTTTCTCATCCTAATAAGCCTGGGAGCACTACGGGAGACTGGGGCTTATTTCATCCCTACAGCTGCAACCACAAAAGATGGCCGCCCCCCGAAGTGGCCATTTTAGAGGCCTACCCTCAGGGATGCATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAAGAATTCAGAGATATTTCTCCCATTTGCTTTTGAAAAAATATGGCTCTGTTCCGCCCGGCTCACCGGTGGTCAGAGTTTAAGGTTATCTCTCTTGTTCCCTGAACATTGCTGTTATCCTGTTCCTTTTTCATGGTGCCCAGATTTCATATTGTTCAAACACACATGCTCTACAAACAATTTGTGCAGTTAATGCAATCATCACAGGGTCCTGAGGCGACATACATCCTCCTCAGCTCACAAAGATGATGGGACTAAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGGATATTGATTGGGGAAGTGATAAGTGTCCATGAAATCATCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAGAAATTATAAAAGTATTAATTTGGGGAACTAATAAATGTCTATGAAATCTTCACAATTTATGTTCTTCTGCCGTGGCTTCAGCCGGTCCCTCCGTTCAGGGTTCCTGACTTCCCGCAACACCTTAGACTTCTCTTTTTCATCTAAATTCATGCCCTTGGTGATGTCATCCCTTATCATGGCAATACATATCATCCATAT
GCAGTTTGTGCTTGACTCGTACCATGTCCTGCTGGGGAATTCCTTCAGTGATACACACAACCAAGGGAATTTCTGCCTCAATAGCTTCATTAATGGCAGCAGCAGCAAAAGGCGGAGGAACATAAATGACAGAAGCCGTTGCTCCTGTCTGTTCTTTGGCCTGAAACATTAACGACGAAGCACCTTATTATTTGTTAAATCATAAACATTGTAAAATAAATTCAATACCATCATTTTAATAATGTCTTGGGGTAAGAAAAGGACACTACCCAGAGACATAGCATTCTTCCCATTCTCAAATTTGCTACACTGTCAGAGTAGAACAGAATCAAGCATAGCCCTTTCTCAGCCCATTTGAATGCCACTGTGAATTGAAAGCTTCTGTGACATCTCACTCTCTATGGCATGTCAGTAAATCTGAAAGCAGCCTGACAGTGAACAGAGTCAAAGAATGCCAACATATCATCCACAAATGATGCCGGGGGTTAAAAATAATTTTTTAAAACTCTGTTCAAGATGATAACAGAGGGGGAGACACAAAAAACATTAAAACTAGTATGGAATCAAAAAAAGTCACATCATGGGGATGTAGGTACTTTAATGAAAAGTACCTACATTACATAGTTTTCTACCTCTAAAGTCTACAAATACTGCCAGAAGCTATACTGTGACAACAGCAAATATTGTGCTGGGACGTCATATGGATGAAAGGTACCAACCCTACTCATTCAAAAAGCCCTTTGTAAGAGCAGAACGGGTGAAAAATAAACAATATCTGTCAAAAAACTTATAGAATATTCCAAATGTCACAACTATTTGTGTCACTATAAATTATAAATGGATTGCTTAGCAAGAAGAACTTTCTTTAAAAAAAAAAAAAAAGCAAAAAGAGGCTCATGACAAAAGAAAAGTCAACCTAGAGGAATTGTAAAAAAACATCTCCTCTCTATATTTTGAGGTTATAAAATCAGCCATAATAGAATTTAAGGCAGGAAGGACTTTAAATTTGTGCTTTAAAAAATGTAATGCTTTAAAACATACCTTAAAAATATGCAAAAGAAGAGAGGAAGAATACATTTAAGGCTGATCAACACATCATCCCAAAGAACTAAGTTTATTTCCTAGATTTTTAAAATTAAATACCCAAGAATTTACACTATAGTTTCTTTTAAATACTATTAGTTTTGTATATATTCATATAAGAGTCAAAAGAGAATGAAAGACTACACACTGAGCTTAAATTAGCTCCCTACAGAGGCAAAATCTGAGATTTCGAAAACACTGTAAAATTTAACTTTACTTACTTTTTGTATCGTCTGAATTTTTACAAAAAGTACCTATCAGTTTTGTAACAAATAATAAAATTTAATTTAAAAATCATTTTAAAAGGTAACTATTAAGAAATCAGCAGTTTGCGGAGAATCTAGGACACTGTGATTTGTAAATCTGACTCTACAATTTAGTTTCTTCACACGGGACCACTCTACTCCAAGCCATCCTAAGCCTGCCACTTAATCAGTTGTGAGACCATGGGCAAGATCTCTAACCTCTTTGCACTAGTAACATCGTTATCTTTAAAATGAGGATGATAACAGCACCTACCTCCGAGGGTTGTAGTGAGGCCTGAACAGGGCAATTTGAATGAAACACCTAGCACAGTGCCTACTGCATAGTCCCCACTCAGGAAGAATTAAGGGGTGGTTGCTGACATTTGTACTACTAACATACTGGAAGAAGAAAGGTAAGGAAAGCGTAAAAAGCCCAACAGAAGCCTGGCCACAGTACTTCCTCCCTTAATAGCTGATTCATACCTAGAAACAAAAATAACACACTGGTTTTGATGGCAATTCAAATTTCTCTAGGTTACTGAATTTTCAAATAGCAAGTGACTCTACCAAAAAAACATAATTAAGATCTCTACCCAAAGAATGCTCGCTCTTCCCTTGCTTTTCTTGTCTTGCCAAACTCAGGTACCACTAATTACCTCCTTCACAGTATTAAAGACAGGTAAGCCCAGATGTGTCTGGCCTCCTTTCCCTGGAGTGGTTGCTCCAACGAGTTTGGTGCCATATTCCAATGCCTGCTGGCTGTGAAAGGTGCCCTGAGGGGAAAAAGCACAAGATCCATGAGAAACAGCAGACTGGTAAGCCCAAGAGAAGCAAAAGCAATCTTAGCAACTTAGGAAAAGAAAAACAAATAGGTTAACTATTCCCAGACAATAACATATATTTACTAAACATAGCTTTGAATCTTGAAGCAAAACAAGCCTCTGAAAAGCCAAAATAGCTATAAACAAGGCCTCTTTGATTCCCTGTTTTCAAACTTGGCTGATAACCAGAAACTCCCTGTTTCTCAACTCCTCATGTGCTCACACTCCTCAGTTTAAAATTCATGGTAGATCATTACCCTCCCACAACAATCTTGGCTTTCTCTCACTTCAACTTAAATATCTGGCAAAACCACAACCTGGGTCAAATCCAATTTTTCCCCTACTTCTAAGCCTATACATGTGCAGCCAAAAAGTGGCTAAGGGAAAAAAAAACAAAAAAACATGTCAACTGGTCTCATTTTAAATTAATGATCACTCACCTTAAGTAAGCCTTCAATACTGCCCACCCACCAACCTGTATTTCTCTATCCATTCACTTTTCCTCCTCAACCTCAGCATTATTGACATTTTGGACAGGATGATTCTTTCTTATGAGAGGTCATCCAGTGCCTAGTGGGACATTTAGCAGCATCCATGGGCTCCACTCATTAGATGCCAGTAGCACACCCTCCTAACTCTCATAATTCCATCCAGTTAATGACAACCAAAAACAGCTCCAAGGACTGATTCATTTTCACTAGGCTTCTGGGGCTTGACTTCCCCTGGTTTTCCTCTTCTCTTTCTCTCTCCTTAGTATTGGGGGAAATTCAGCCAGATATTGGGCAAAATTCACCCCCGATATTTCACTTAGGTTCTTTTCCATATTCCCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGACAGAGTACAAAAGAGAGAAATTTTAAAGCTGGGTGTCCGGGGAAGACATCACATGTCGGCAGGTTCCATGATGCCCCCTAAGCCGTAAAACCAGCAAGTTTTTATTAGTGATTTTCAAAAGGGGAGGGAGTGTACAAATAGGGTGTGGGTCACAGAGATCATGTGCTTCACAAGGTAATAGAATATCACAAGGCAAATGGAGGCAGGGTGAGATCACAGGACCACAGGACCACAGGACCGGGGCGAAATTAAAATTGCTAATGAAGTTTCCAGCACGCATTGCATTGATAATATCTTATCAGGAGACAGGCTTTGAGAGCAGACAACCGGTCTGACCAAAAATTATTAGGCGGGAATTTTCTCATCCTAATAAGCCTGGGAGCACTACGGGAGACTGGGGCTTATTTCATCCCTACAGCTGCAACCACAAAAGATGGCCGCCCCCCGAAGTGGCCATTTTAGAGGCCTACCCTCAGGGATGCATTCTCTTTCTCAGGGATGTTCCTTGCTGAGAAAAAGAATTCAGAGATATTTCTCCCATTTGCTTTTGAAAAAATATGGCTCTGTTCCGCCCGGCTCACCGGTGGTCAGAGTTTAAGGTTATCTCTCTTGTTCCCTGAACATTGCTGTTATCCTGTTCCTTTTTCATGGTGCCCAGATTTCATATTGTTCAAACACACATGCTCTACAAACAATTTGTGCAGTTAATGCAATCATCACAGGGTCCTGAGGCGACATACATCCTCCTCAGCTCACAAAGATGATGGGACTAAGAGATTAAAGTAAAGACAGGCATAGGAAATCACAAGGATATTGATTGGGGAAGTGATAAGTGTCCATGAAATCATCACAATTTATGTTCAGAGATTGCAGTAAAGACAGGCGTAAGAAATTATAAAAGTATTAATTTGGGGAACTAATAAATGTCTATGAAATCTTCACAATTTATGTTCTTCTGCCGTGGCTTCAGCCGGTCCCTCCGTTCAGGGTTCCTGACTTCCCGCAACACCTTAGACTTCTCTTTTTCATCTAAATTCATGCCCTTGGTGATGTCATCCCTTATCATGGCAATACATATCATCCATAT
Task1_train_3794
Here is a variant affecting ELMOD3 (ELMO domain containing 3) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Autosomal recessive nonsyndromic hearing loss 88
CAAGACCACCTGCAGGTTCAATGATTCCTGAGAGACTCAAGGGACTCTACGTATAGTTATACTTAACAGTTCTGATTTAGTACAACAGAAGCAAAATCAGCAAAGGGAAGAATTACATGGGACAAATTCCACAGGAAACCAGGTGGTGATGTCCAAGAGGCCTCTCCCAGTGGAATCACACAGAACACACTTCATTCTTCCACTGCCAAATTGTGCAATACGTATAAAATGTCACCAATCAGGGAAGCTCATTAGAGGTACCCAGTACTCAAGGTTTTTACCATGACATGCTGGTCATGTAGGCACCCTCTGCCTAGCACATACCAAAACTCTGGAATCACAGAGGGAAAGCTGGTGTTCTGCATAAAGTATCTTTTTTGTGTTTGTTTTTTTGAAAAAAAAAAAATTTTTTTGTAGAGACAGGATCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTAGACTCAAGTGATCCATCCGCCTGTAATCCCAAAGTGTTGGATTGTGAGCCCTGGGCCCAGCCAGCAAAAACTATCTTGTTTGCATGAGCAGTTGAGGAACAATGTTAGGGAATGATGGGAACCATCTCAAAATCCAAGTTCTCAGCTGTCAGCCATGGCCTGATCTAAGAATTTTCTAAGGCTCAGGCTCTAAGGAGTCTCAGGCCTGCTGTGTTAACTTTTTTCTGCACAGCACTCAAAGTTTATGTCCTTTTTGATTTTGAGAGATGGGAAGACTGAGTTTCACAGAGGTTGGGTGACCTTCTCAAGGACACACAGCTACCAGGTAGCCAGGCCAAGATCTGGAATTCAGGTATCATGGAAGACCCTGAGAAAAATCTCTGTGGAGCCAGAAGACCTTCTGCAGTTCAGCACTGTCCAGAACTTTCTGCAGTGACAGAAGTGGTCTAGATATTGGAAATGCACCATCCAGTACAGCAGCCACTAAGCACACGTGACTACTGAGCACTGGAAATGTGGCTAGTACCACTAAGGAGCTGAATTTATATTTGTTTTTCATCTTTAACTCATTTAAATAGCTACATGCAGCTGGTTGCCACCATACTGGGCAGTACAGTTCTATACTATAATGTAATGGATTTTTCTTCAACTGGGAAGCAGGTGGGATAAATAGACCTTGGTTCTTGTTCTGTACTAAGGAATGCACTGGTCTATGTGTTCCTCTCACTGGGTGTCCTTGTGTATGTGCAACAGGGGAAAATAACATGTCATGTCTGCAAGTTCCCTGAAAAAAAGGCCCTTTCCATTCAGGGATTTTGCAAGCTTGGTTTCATTGTTATTAAAGAAAGGAGCTTGCCTGACTAAACATAGAGCATTAAAGCTGTCCCTGTAGGGGATTCTGAGGCCCTTCCTGGTGAAGCTCCCCTGCCAGACTCAGGCTGCCTCCTCTTGGGGTCTGACCCGCACAGCTGGCTCTCAGGCCTCTGTGTTATCGTGAGATGGGGTGTCCCCCCAAGTCAGGATGACCTTCTACCCACGTGCGTCTTCTCTGTCTTAGGATGAGGTGCTCACGATCAGCCAGACAACCAGAAGCCCAAAGAAGGGGAGAGGAGACTTTAAGAACCCGTAGGGCTAGTTAGAGCACCGAGCCTCTCACTTCTGTCTTCATCCTGACACCAGGAGATGATGTGGGCCCAGGGGTTGGGTCTGCTGCAGGCCAAGGAGAGCTGACGGGTCAGGATGATGAAGAGGCTGGAGAGCTAGCACGGGGGTTATGCACATCAGCTCTGGAGCAAATAACCTCAGTTGGTATCCTGGTTCCCATGCCTTAGGAAAGTTACTAAAGGTCACTGAGCCTTAGTTCCTCATCTGTAAGATGGGAAGAAGATTATTAGGAAAATTAAGTGGAAGCAATAATAATATCAGCTGTTGCCTCTGGGGCTGTGCTTGCCTGCGAGCCACACCAGGCTGCAGATGACAGGAAACACAGTGAGAGCTGGAGTTGCTGCTGACTGGGTGCCCCTCCATTCCAGCAATTCCCTTTCTGTTTGATGTCCGTGAACATCACCCACATTGCCATCCAGGCCTTGAGAGAGGAGTGTCTCTCCAGGTGAGTCCCCAAACACCAGCTGGTTAGAGTGACCCAGCAAAGCCTTGTTCGTCCCCACTCTGGCTTAATTTTCCCCAGCTCTACTCCACCTGCTGGCTCCTGGAGGGCCTGGACAAAGTCCCCATGCACCGGTCTCCCCAGGACATCCCTTCTCCCACCCCTGGCCTTAGATGTCAGGCTCCTGGGGAATGGTGGGGGCATCCTGGGTTTGGGCTGGCTCCCCTGGGGAAATGGGGAAGGAAGGCGGGAGGGAACCTAGGTCTCAGCCTTCATCCACCGCTGAGCAGGTCACCTTGCCTTTTTCCTGCAGAGAGTGTAATCGGCAGCAGAAGGTCATCCCCGTGGTGAACAGCTTCTATGCCGCCACATTCCTCCACCTCGCACATGTCTGGAGGACACAGCGGAAGACCATCTCAGACTCGGGCTTTGTCCTCAAAGGTGTGCTCTTTCTTCTGGGGAGGCCTAGGCTGAATGCACAGTGTCCCAGGTCCAGAGAGCCCAAGGTGGTTGCTAGACTGGTTTTGGCTGCAGTTCTTCCCCATCCACACTTTCTCAAATTCCAGCTTACCAAAATCTCCATCACCCACCCCCTGGAGTCTGCTAGTTCTCCTTTCTCTGCCCTGACTGTCGCCCTTTTCTGGTCTTATACTTATGACAAGCATATATTCTGATCAAAAATTGGGAGCCAGGGTCCAATAGTTGGACTATTCAAAGTTGCAATTGTGCAGACAAGGTAGAGTGTGTGGTCCCTGTGGCTGTAGCTGGCTCCCTAGCCTACCTCTCTGGTGATCTCTCCATCTGAGGCTCCTTCACTTTCTCTCCATGGGATAGGGGTTGGGGGTACTCCCTAGAGCTGCTAGGCTTGAGGCCTTGACTGTTGTGTCACCCAGAGCCCCCTCAAGCCTTCTGCTCCCCAATTCTCTCTGTTGCAGAGTTGGAAGTATTGGCCAAGAAGAGCCCACGGCGGCTGCTCAAGACCCTGGAGCTGTACTTGGCCAGGGTGTCAAAGGGACAGGCCTCCTTGTTGGGAGCACAGAAGTGCTATGGGCCAGAAGCCCCTCCCTTCAAGGATCTCACCTTCACAGGTGAGAGTGACCTGCAGTCTCACTCATCCGAAGGCGTATGGCTGATCTGACCTCCGAGATGAATGGAGGCTTAAAGGCTGAGCTGCAGGGGCTTTCAGGGGGTCAGTGGAGCCATGTCAGGAGCCTGGCCAGGCCGCACCCCTTGCTGTCTCAGCAGATGGGATATAGGAAGCTCCTGGGCTTAGCTGTGGGAAGCCAAGTACCCTCACCGGCATGGGACATGAGGGGCAGCTAGACTTCACCCCCTTCCCGCAGACCTGCCTCCAGAGCAAGGAGAATTCTGCCTTAATCTGTTGGGCTCCAGTCTCCGGGTTGAATTCCAGTGTATCCCACTGGGAGTGAATGGATCATGAGGTGGGATGGCCCCATCTGGATGTTCTGCAGATCCCCACATGGGAGGAGATTCCCAAGTAGAGGCAGCCAGAATTCTGACTCCCTGGCAGCAGCAGGGCTTTCAGGCACCAGTGTCTGTGTTGTTAGAACTCAGAGGAAGAGGCAGGGGCAGCAGCCGACAGGGGGCAGCATGACCCAAGCAAGGGGCCTGAGGCCTCAGTGGGGGTAGGGCAAGGAGGTACCTCACAGGTGGGTGTGAGGCCCCCTCTGGAGTTTCTGGCCATTCACTTACCCACTCTCTTCTCCCCCTGACCCCCGCTCCATTGTTTATGATGGAAAAACGGACATTTGGCTAGGTGTCTCTCACGGCTGCTCCATCCTAGCCCCCACAAGCTGGGGCTTCCTCCTGTAGATGCTGTGCATGCCCCATGATGAGTTTCTGGCCTAATTGAGGGAAGGAGGAAATTCATACCAGCAGTTTTCAAATAAAAGAATTGTTCTAATTAAGCGTCTCAGGTGTTTTTTTCCAAGACAAGTCTTGCACCATCCTGTGGTCCTGTCATTCCGGAACCTGGTTAGAGCCAGGCACACCTAAGGGTGAAGGCATA
CAAGACCACCTGCAGGTTCAATGATTCCTGAGAGACTCAAGGGACTCTACGTATAGTTATACTTAACAGTTCTGATTTAGTACAACAGAAGCAAAATCAGCAAAGGGAAGAATTACATGGGACAAATTCCACAGGAAACCAGGTGGTGATGTCCAAGAGGCCTCTCCCAGTGGAATCACACAGAACACACTTCATTCTTCCACTGCCAAATTGTGCAATACGTATAAAATGTCACCAATCAGGGAAGCTCATTAGAGGTACCCAGTACTCAAGGTTTTTACCATGACATGCTGGTCATGTAGGCACCCTCTGCCTAGCACATACCAAAACTCTGGAATCACAGAGGGAAAGCTGGTGTTCTGCATAAAGTATCTTTTTTGTGTTTGTTTTTTTGAAAAAAAAAAAATTTTTTTGTAGAGACAGGATCTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTAGACTCAAGTGATCCATCCGCCTGTAATCCCAAAGTGTTGGATTGTGAGCCCTGGGCCCAGCCAGCAAAAACTATCTTGTTTGCATGAGCAGTTGAGGAACAATGTTAGGGAATGATGGGAACCATCTCAAAATCCAAGTTCTCAGCTGTCAGCCATGGCCTGATCTAAGAATTTTCTAAGGCTCAGGCTCTAAGGAGTCTCAGGCCTGCTGTGTTAACTTTTTTCTGCACAGCACTCAAAGTTTATGTCCTTTTTGATTTTGAGAGATGGGAAGACTGAGTTTCACAGAGGTTGGGTGACCTTCTCAAGGACACACAGCTACCAGGTAGCCAGGCCAAGATCTGGAATTCAGGTATCATGGAAGACCCTGAGAAAAATCTCTGTGGAGCCAGAAGACCTTCTGCAGTTCAGCACTGTCCAGAACTTTCTGCAGTGACAGAAGTGGTCTAGATATTGGAAATGCACCATCCAGTACAGCAGCCACTAAGCACACGTGACTACTGAGCACTGGAAATGTGGCTAGTACCACTAAGGAGCTGAATTTATATTTGTTTTTCATCTTTAACTCATTTAAATAGCTACATGCAGCTGGTTGCCACCATACTGGGCAGTACAGTTCTATACTATAATGTAATGGATTTTTCTTCAACTGGGAAGCAGGTGGGATAAATAGACCTTGGTTCTTGTTCTGTACTAAGGAATGCACTGGTCTATGTGTTCCTCTCACTGGGTGTCCTTGTGTATGTGCAACAGGGGAAAATAACATGTCATGTCTGCAAGTTCCCTGAAAAAAAGGCCCTTTCCATTCAGGGATTTTGCAAGCTTGGTTTCATTGTTATTAAAGAAAGGAGCTTGCCTGACTAAACATAGAGCATTAAAGCTGTCCCTGTAGGGGATTCTGAGGCCCTTCCTGGTGAAGCTCCCCTGCCAGACTCAGGCTGCCTCCTCTTGGGGTCTGACCCGCACAGCTGGCTCTCAGGCCTCTGTGTTATCGTGAGATGGGGTGTCCCCCCAAGTCAGGATGACCTTCTACCCACGTGCGTCTTCTCTGTCTTAGGATGAGGTGCTCACGATCAGCCAGACAACCAGAAGCCCAAAGAAGGGGAGAGGAGACTTTAAGAACCCGTAGGGCTAGTTAGAGCACCGAGCCTCTCACTTCTGTCTTCATCCTGACACCAGGAGATGATGTGGGCCCAGGGGTTGGGTCTGCTGCAGGCCAAGGAGAGCTGACGGGTCAGGATGATGAAGAGGCTGGAGAGCTAGCACGGGGGTTATGCACATCAGCTCTGGAGCAAATAACCTCAGTTGGTATCCTGGTTCCCATGCCTTAGGAAAGTTACTAAAGGTCACTGAGCCTTAGTTCCTCATCTGTAAGATGGGAAGAAGATTATTAGGAAAATTAAGTGGAAGCAATAATAATATCAGCTGTTGCCTCTGGGGCTGTGCTTGCCTGCGAGCCACACCAGGCTGCAGATGACAGGAAACACAGTGAGAGCTGGAGTTGCTGCTGACTGGGTGCCCCTCCATTCCAGCAATTCCCTTTCTGTTTGATGTCCGTGAACATCACCCACATTGCCATCCAGGCCTCGAGAGAGGAGTGTCTCTCCAGGTGAGTCCCCAAACACCAGCTGGTTAGAGTGACCCAGCAAAGCCTTGTTCGTCCCCACTCTGGCTTAATTTTCCCCAGCTCTACTCCACCTGCTGGCTCCTGGAGGGCCTGGACAAAGTCCCCATGCACCGGTCTCCCCAGGACATCCCTTCTCCCACCCCTGGCCTTAGATGTCAGGCTCCTGGGGAATGGTGGGGGCATCCTGGGTTTGGGCTGGCTCCCCTGGGGAAATGGGGAAGGAAGGCGGGAGGGAACCTAGGTCTCAGCCTTCATCCACCGCTGAGCAGGTCACCTTGCCTTTTTCCTGCAGAGAGTGTAATCGGCAGCAGAAGGTCATCCCCGTGGTGAACAGCTTCTATGCCGCCACATTCCTCCACCTCGCACATGTCTGGAGGACACAGCGGAAGACCATCTCAGACTCGGGCTTTGTCCTCAAAGGTGTGCTCTTTCTTCTGGGGAGGCCTAGGCTGAATGCACAGTGTCCCAGGTCCAGAGAGCCCAAGGTGGTTGCTAGACTGGTTTTGGCTGCAGTTCTTCCCCATCCACACTTTCTCAAATTCCAGCTTACCAAAATCTCCATCACCCACCCCCTGGAGTCTGCTAGTTCTCCTTTCTCTGCCCTGACTGTCGCCCTTTTCTGGTCTTATACTTATGACAAGCATATATTCTGATCAAAAATTGGGAGCCAGGGTCCAATAGTTGGACTATTCAAAGTTGCAATTGTGCAGACAAGGTAGAGTGTGTGGTCCCTGTGGCTGTAGCTGGCTCCCTAGCCTACCTCTCTGGTGATCTCTCCATCTGAGGCTCCTTCACTTTCTCTCCATGGGATAGGGGTTGGGGGTACTCCCTAGAGCTGCTAGGCTTGAGGCCTTGACTGTTGTGTCACCCAGAGCCCCCTCAAGCCTTCTGCTCCCCAATTCTCTCTGTTGCAGAGTTGGAAGTATTGGCCAAGAAGAGCCCACGGCGGCTGCTCAAGACCCTGGAGCTGTACTTGGCCAGGGTGTCAAAGGGACAGGCCTCCTTGTTGGGAGCACAGAAGTGCTATGGGCCAGAAGCCCCTCCCTTCAAGGATCTCACCTTCACAGGTGAGAGTGACCTGCAGTCTCACTCATCCGAAGGCGTATGGCTGATCTGACCTCCGAGATGAATGGAGGCTTAAAGGCTGAGCTGCAGGGGCTTTCAGGGGGTCAGTGGAGCCATGTCAGGAGCCTGGCCAGGCCGCACCCCTTGCTGTCTCAGCAGATGGGATATAGGAAGCTCCTGGGCTTAGCTGTGGGAAGCCAAGTACCCTCACCGGCATGGGACATGAGGGGCAGCTAGACTTCACCCCCTTCCCGCAGACCTGCCTCCAGAGCAAGGAGAATTCTGCCTTAATCTGTTGGGCTCCAGTCTCCGGGTTGAATTCCAGTGTATCCCACTGGGAGTGAATGGATCATGAGGTGGGATGGCCCCATCTGGATGTTCTGCAGATCCCCACATGGGAGGAGATTCCCAAGTAGAGGCAGCCAGAATTCTGACTCCCTGGCAGCAGCAGGGCTTTCAGGCACCAGTGTCTGTGTTGTTAGAACTCAGAGGAAGAGGCAGGGGCAGCAGCCGACAGGGGGCAGCATGACCCAAGCAAGGGGCCTGAGGCCTCAGTGGGGGTAGGGCAAGGAGGTACCTCACAGGTGGGTGTGAGGCCCCCTCTGGAGTTTCTGGCCATTCACTTACCCACTCTCTTCTCCCCCTGACCCCCGCTCCATTGTTTATGATGGAAAAACGGACATTTGGCTAGGTGTCTCTCACGGCTGCTCCATCCTAGCCCCCACAAGCTGGGGCTTCCTCCTGTAGATGCTGTGCATGCCCCATGATGAGTTTCTGGCCTAATTGAGGGAAGGAGGAAATTCATACCAGCAGTTTTCAAATAAAAGAATTGTTCTAATTAAGCGTCTCAGGTGTTTTTTTCCAAGACAAGTCTTGCACCATCCTGTGGTCCTGTCATTCCGGAACCTGGTTAGAGCCAGGCACACCTAAGGGTGAAGGCATA
Task1_train_3795
A variant has been detected on Chromosome 2 in GGCX (gamma-glutamyl carboxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
ACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACGGCACCCAGCCCCCAAAAAGCCACTTTAAACCTTATCCTAGGAGGACAGTTTCACATTGCGTCTAACCTCTTCCTGGCCTCTTAATCTTGGGTTGTTAAATCTTATTTGCTTTATTTCCTTGGTTCCTCTAAGTTGTAATCTCGGAGTTAAAAACAGCTTTAGAACCCCGCCCCCCCAAAAAAAAAAAAAAAACTTTTGAGAATTTTTTTCAAATAAATGTCCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAG
ACAGGCACCCACCACCACGTCTGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACGGCACCCAGCCCCCAAAAAGCCACTTTAAACCTTATCCTAGGAGGACAGTTTCACATTGCGTCTAACCTCTTCCTGGCCTCTTAATCTTGGGTTGTTAAATCTTATTTGCTTTATTTCCTTGGTTCCTCTAAGTTGTAATCTCGGAGTTAAAAACAGCTTTAGAACCCCGCCCCCCCAAAAAAAAAAAAAAAACTTTTGAGAATTTTTTTCAAATAAATGTCCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCTCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAG
Task1_train_3796
Gene GGCX (gamma-glutamyl carboxylase) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
AAAAAAAACTTTTGAGAATTTTTTTCAAATAAATGTCCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTG
AAAAAAAACTTTTGAGAATTTTTTTCAAATAAATGTCCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCTTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTG
Task1_train_3797
The gene GGCX (gamma-glutamyl carboxylase) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Vitamin K-dependent clotting factors, combined deficiency of, type 1
CCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAA
CCATTGCATAGAATGGGTCTGTGACTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCGAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAA
Task1_train_3798
Consider a variant on Chromosome 2 in gene GGCX (gamma-glutamyl carboxylase). Determine its clinical classification and disease relevance.
Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
CTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTC
CTGGCTGCTTCTACATCTGCACCCAACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACGAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTC
Task1_train_3799
Here is a variant affecting GGCX (gamma-glutamyl carboxylase) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; not provided
AACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACACGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCA
AACATCTGGCCCCCTTCAGAACTCTGAGTGGACAGGATCAGGATTTGACTCAGGAGGATTAGAATGTGAAGAATCCGTGTTTGAGGGATTCAGTTCTCCAACTGCCTCAAAGGGTCTCAAGTTTGCATAAGTCACCTCCTGGGCCAGCTGCTCCAGGGAAGGACGGCCTAATATCAGATTTCGAAGTGAGATACAAGTCATCAGGAAGCTGAAAAACAGGAAAAAGCCGACCAAGTTCAAACTCCTGTTTCACCAGAAGAATTTCAGCTAAAGCCCTTAGAAGGCACCTGGTCCTCACTCCTCCCACACAGGCATATATGGGAATCTCCCCCCAAGTGACCCTCCATCTCCCAGCTGGAAGGGTACACCACTCTTTATACAGTCTGGTAGAGGATTCCAGGATAGGGTAGGAACAGCCCACAGAGAGGCTGGAGATAAGCTGAGGCAGAACAAGAAAGCAGGCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTTTACTTCCCCTTCCAACAGAGGCTGCAGCTCTGGGGGTAGAGGCCCTGTTTCTGCCCGGAAGACAGAAAAAAGAGGAATCACTGAGATGGATCACTCTCTCCCCTTAGAACTCCTCTTCTGCCAGCTAGAGACTTCAAGTTCATTCTTGAATGGCTAGAACATCATTCATAACCCTGACTTCTTGAAACCAGAGGCTATCTCAGCCCAAATGTTCATACACTCACCACTTCCATTCTCCACCTTTTCCTTTAATTCTTGCAGATATGCCAGGTCTTGCTCCAGTGCAAGCTCTGTAGTGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGCTTTCTGCCATTGTTTTTTAAATTGTTAGAGATGGGGTCTCACTCTGTTGCTCAGGCTCACTGTGAATTCCTGGCTTCCCACCTCAGCCTCCTAAGAAGCTGGGATTACTGGTGTGAGCTACTGCACTCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAAGGAAGCCAGAAGGAAAGACAGAAAAGCCTCTCCTCACTTTCCTCCATACCAGGGAAATCTGCAATGAAGACCACCTCAGTGTGGTTGTCTAGGCTGCTCTTGATTTCCTGTAACTTGGCCCTCCAGGGAGACAGGTCCATCAAGAGTGGTTGCACCCAGGATGTGCGCTGAAAGGGTGACCAAGCGGCCTGCACGATGTCCACAGGAGGGTCAAAAATCCTTAGGAAAGAAAACCATGTTCTAAGGACATCACAGCCACCCACCCACCAGAACTTCCAGTTCTCTCCCTTTCATCATCATTCCTAAGGACAGGGAATAGAAGAAGAAATGGCCTGTGTCAGCATGTTATTGCCAGTCCAGGGCAGAGAAAGAAGGCAGAAGAGATCTGGAGCACTGGGTATAATGGGGGTTAGTAGCTACCTGAGAAGGTATTATGTCAACAGTGTCTAAAAGAACAAGTCAACTCACTTTTCTCCTGGATGATGGTGCCCCCTGCTGGAAGCAACCAGCTATGCCCACAACCAGATCAAGGGGGACATGCACTAGAGGAAGGACAGCTTTTTAAGCAAGACAATACCAGGAAGCAAGGGCTGTTCATCTTGGTAAAAAGAACTGTGCTTCATTTTTTCCCACTCTCTGCTCCCCTTGCCCACCTCTGCTGGAAGCGGTCATTGATGGAGACCCAAATATCAAAGTAGATCTGGGGCTCAGTGACATTATACTTGGGAAGCAGGCGGCTCAGGCAAGTGGCATATTGCTTCAGCATGTCTGCATGATCCTTCCATCGCCGACTCTGTGTAAATACCTGCCCCAAACCCCCATATTAGTCCCACCTCATCATTATCAACTTCCAAGACATGTCATGCACTGCCAATGGCACAACGAGATCCCTGCCTGCTGCCCATTCTGGCTAGAAAAAAATGGAACTTGCCTTTGGGAATGAATTTTTCATTGTTGGGCTAGTGGTGCTTACTTTTCCTGAATCTAATCTCAGTTCAAGGAAATGAATGCATTGCCCTATCTCAACCCACATAAAAGATAGTTCAATCTGGCTCTTGAGAAAAGGCAAAGCAGACTCAAATTTGTTTTGCTTTATGGTGTGTGTAAGACAAAACCAGACCCCAAAGCACAAGGGGGCTCTGAAGAACAGTAAATTGTCAGCATCAGACATCTCACCCCAGGGTTAAGGTAGCCCAGTTCGCCAGTGCGGCCATCACGGTAGGTGATCTTCACGTGCTGGTGGGAGCGGGAGTGCACCATCATGTCCCAGGAATAGCCATACAGCCCATTTGTCCAGTTGTTATAGCCCTGGGAAGGCAGCACAGAGGGGAATCAGCTCAATGCTTCTCACACTGACCCCATCCCCTACCAAGAAGGGGCTGCAAAACCAGCCCCATTCTTTCCCAACTATTGTCATCCGTTCCTTTCTAAGTCCAGCCTTTGCTGTACACTCCACAGCCCCTACAAACCTGGGTGAGAAAATGAGAATAGGGCAGGAATAGCTGCTCCAGGAGGTAGAGCAGGGTGAAGGCAGCTCCCAGCTGATGGCGCAGCCCTGGCTTCTGGCCACTTTTGCCCCGGCTCCTCTTATACACACAGGAAACACTGGGCTGAGGGGCTGCCTTGAGGGGCAACAGTTGTTGCAACCTTCGGGGGCAGTAGGACACCAGCTTCCGAGGCCACTCAGGGGAGCAGAAGAGAGGGCTGCTGGCCAGCATGACGTAGGAGAACATACCTAGGAAAGCAGGGAGAAAATACATATTTCAGGAGTTTGGCTGGGCCTCTTCAACCCCGTTCCCTTAGGAGACTTCTCCCAGGTGTTCCACTGAAAAGGAAAGTAGTTCTTCTTTTTTTTTTGAGACAGTCTTTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCATGCGCCACCATGCTCAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCCGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAAACCTGAGCCACCAAGCCCGGCCACAAAGTAGTTCTTAACTGTAAGATATTTGTTCTTCCTGGAGATTCCCTACTGTACAACATACTAACTGAGCCCAGAAGCCCCAGTCCTCTTATCCCCATTTATGCCTACTTCA