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_19500
|
This variant impacts the gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Hypertrophic cardiomyopathy
|
ATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGC
|
ATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTTCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGC
|
Task1_train_19501
|
The following genetic variant occurs in MYH7 (myosin heavy chain 7) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Cardiovascular phenotype
|
ATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGC
|
ATCTAACTAACCCTGATATCTGGGACTAGGGGAGGAAAGCCCTTGCCTGGGAGGCCTTTTCCCATGGTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTTCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGC
|
Task1_train_19502
|
This mutation is located in gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Hypertrophic cardiomyopathy
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GTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTG
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GTTTGCGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCACCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTG
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Task1_train_19503
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Consider a variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7). Determine its clinical classification and disease relevance.
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Pathogenic; Hypertrophic cardiomyopathy
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CGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACT
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CGCCTCCACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGACCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACT
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Task1_train_19504
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Here is a mutation in MYH7 (myosin heavy chain 7) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Primary dilated cardiomyopathy
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CACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAG
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CACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGTGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAG
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Task1_train_19505
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Consider a variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7). Determine its clinical classification and disease relevance.
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Pathogenic; Primary dilated cardiomyopathy
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ACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGC
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ACTTGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCACTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGC
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Task1_train_19506
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Assess the clinical impact of this variant on gene MYH7 (myosin heavy chain 7), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Hypertrophic cardiomyopathy
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TGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTG
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TGTGGAGGCTGCGTGAGGTTGTTGCCTCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTGCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTG
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Task1_train_19507
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Assess the clinical impact of this variant on gene MYH7 (myosin heavy chain 7), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Hypertrophic cardiomyopathy
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TCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATA
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TCAGAGGATGGCTGTCTTGGGTCTGCTTGTACTGTTATGGGCTGGGGAGGAGGAAGGGCAGCAGGGAGGGGACACAGTACTTTTTCAGCCGCTCATCCAGCTGCTGCTTGTCATTCTCCAGGTCCATGATGCTCTCCTGGGTCAGCTTCAGGTCGCCCTCCAGCTTCCGCTTCGCTCGCTCCAGGTCCATGCGCACCTTCTTCTCTTGCTCCAGGGATCCTTCCAGCTGGTAGAGAGAAGGAGCCAGGCCCAGTGAGGCAAAGCATCCTGACTTGGTGATTTTGTTGTTCAGTTACCTCAGGACTTGGTAAATCTTTGTGTTCAGGACTTGGGAAACCTTCCCCAGAGTGGGCCAAATGTTATTAGGGGACTGTGAGATTGCCTAGATATAGGGGATGCTGAATCAATATTTTATAGATAAAGGAATAAATGACTGTGGGATGAAACCCCAAAGCCGTATTCTTTCTTTCTTTCCCTTTCTTTCTTTCTTTCTTTCTCTCCTTTCTTTCTCTCCTTCCTTCCTTCCTTCCTCCTTTTTTTTTTTTTTTTTTTTATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGCCTCCCTGGTTCAAGGGATTATTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTCCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATA
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Task1_train_19508
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Given this context: Chromosome 14, gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hypertrophic cardiomyopathy
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CAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGA
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CAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGTGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGA
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Task1_train_19509
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Consider this mutation in LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is this a benign change or a disease-causing variant?
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Pathogenic; Hypertrophic cardiomyopathy
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CCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATG
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CCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTCCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATG
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Task1_train_19510
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The gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Restrictive cardiomyopathy
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CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGAT
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CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGGCTGGCCGCCGTATTCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCAGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGAT
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Task1_train_19511
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This variant affects gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
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Pathogenic; Cardiovascular phenotype
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TCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAG
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TCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCACGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAG
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Task1_train_19512
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A genetic alteration is present in LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Hypertrophic cardiomyopathy
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TCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAG
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TCATTCTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCACGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAG
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Task1_train_19513
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Chromosome 14 houses a mutation in gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Hypertrophic cardiomyopathy
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CTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGG
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CTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGTCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGG
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Task1_train_19514
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Mutation context: Chromosome 14, Gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Cardiovascular phenotype
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CTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGG
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CTTTCAGCATCCTATAAACACCTACTGGGCATCAGGCTCTGTGCTAAGCACTGCAGTCCCCAAATTGAATAGATCTAAGTTCCTATCTAAAGGAAGCTTGTAGTCTTATGGCTGAGATAGAAGCTTAAATAATTAAAATACAGAGTGATAAGTGAGTCAACAGACATATGTGCATCAGAGGGAACAATGATCAGATTCTGCCTTAAATATTGGAATTTCAAAAATTCTACTTGGGGAGCCTCACAAAATTTCCAAAGAAATTTATCATGTTCTTATGAGATGACCCTCTAAATCTTGTGTCAAAGGCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGTCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGG
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Task1_train_19515
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This variant impacts the gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Hypertrophic cardiomyopathy
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GCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAG
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GCAGAGATATATGGGATTGCACTTAAATTAAATAAGAAAACTCATCTCTATTATTGATCATACCAGTGAGATTAGATACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCGGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAG
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Task1_train_19516
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This sequence change occurs on Chromosome 14, altering LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Hypertrophic cardiomyopathy
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ACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGG
|
ACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCTTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGG
|
Task1_train_19517
|
This variant impacts the gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Cardiovascular phenotype
|
ACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGG
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ACATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCTTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGG
|
Task1_train_19518
|
This variant impacts the gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Hypertrophic cardiomyopathy
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CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGC
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CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGACCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGC
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Task1_train_19519
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This sequence change occurs on Chromosome 14, altering LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Hypertrophic cardiomyopathy 1
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CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGC
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CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGACCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGC
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Task1_train_19520
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This mutation is located in gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Hypertrophic cardiomyopathy
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CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGC
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CATAATTCAGAATTGATCACCACCTCTGACTTTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGCCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGC
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Task1_train_19521
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A sequence alteration has been identified in LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is it disease-inducing or harmless?
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Pathogenic; Hypertrophic cardiomyopathy
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TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCC
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TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCGGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCC
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Task1_train_19522
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This variant affects the gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Cardiovascular phenotype
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TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCC
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TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCGGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCC
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Task1_train_19523
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This mutation is located in gene LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Cardiomyopathy
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TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCC
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TTTCATTCCCCAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCGGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCC
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Task1_train_19524
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This sequence change occurs on Chromosome 14, altering LOC126861898, MYH7 (BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808| myosin heavy chain 7). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Hypertrophic cardiomyopathy
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CAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCC
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CAGCTCCTTTCTAGAAAGATATCAGAAAAGTTAACATCCTCTAACCCTACCCCCCTCTAAACATAAACACAAACACACACACACACACACACACACACACACACACACACACACACACACACAGAGCTCTGGGCACAGATAGACATGGCATATCTAGGCCCCACAACTCTCAATCTACTCACATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTCCTTGGTCAGCTTGGCAATGATCTCATCCAGCCCAGCCATCTCCTCTGTCAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAACAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCC
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Task1_train_19525
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A mutation found in MYH7 (myosin heavy chain 7) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Hypertrophic cardiomyopathy
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CAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTG
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CAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCACTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTG
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Task1_train_19526
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This is a variant in MYH7 (myosin heavy chain 7), located on Chromosome 14. Is this mutation a likely cause of disease or not?
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Pathogenic; Hypertrophic cardiomyopathy
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CAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTG
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CAGGTTTTTCACCTGCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCGCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTG
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Task1_train_19527
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This sequence change occurs on Chromosome 14, altering MYH7 (myosin heavy chain 7). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Hypertrophic cardiomyopathy
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GCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCT
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GCCGACCAAGAATCCCATCTCCTTTAGGGTCAAAGGTCACCAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAGTGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCT
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Task1_train_19528
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A mutation found in MYH7 (myosin heavy chain 7) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Hypertrophic cardiomyopathy
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CAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCA
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CAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCAATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCA
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Task1_train_19529
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This alteration occurs within gene MYH7 (myosin heavy chain 7) located on Chromosome 14. Is it associated with a disease or is it a benign variant?
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Pathogenic; Hypertrophic cardiomyopathy
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CAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCA
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CAGCTTGGTGCCATCTGTGGGGAGCTCCATGTCAAGGTCCATGCTGCTCTCTGGATGCCGAGTGGCTAGCCTGGGTCAAGGTCAGTATGGTCTGAGAGTCCTGATGAGACCCGGGCTGGAGCCAAAGGGAGCTGCCCTTACCTTGTTCTCTGTTGCGTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCCATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCA
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Task1_train_19530
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A change on Chromosome 14 affects gene MYH7 (myosin heavy chain 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Hypertrophic cardiomyopathy
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GTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCT
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GTGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCTGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCT
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Task1_train_19531
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Gene MYH7 (myosin heavy chain 7), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Hypertrophic cardiomyopathy
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TGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTC
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TGTTTCTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCAGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTC
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Task1_train_19532
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The following genetic variant occurs in MYH7 (myosin heavy chain 7) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Cardiovascular phenotype
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CTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGT
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CTCCTTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGGCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGT
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Task1_train_19533
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The gene MYH7 (myosin heavy chain 7) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Hypertrophic cardiomyopathy
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TTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAG
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TTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCGGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAG
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Task1_train_19534
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This mutation is located in gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Hypertrophic cardiomyopathy
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TTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAG
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TTCTCCACTTTGGCCAGTGTCAGCTCCAGATCATCGATGTCCCTTTTGAGCTCTGAGCACTCATCTTCCAGCTTGCGCTTCTTGGCAGTGAGCTCAGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCTGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAG
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Task1_train_19535
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The gene MYH7 (myosin heavy chain 7), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Familial cardiomyopathy
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AGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCT
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AGCATTCATCTCCTCCTCATCCTCCAGCCTCTCGTTCATCTCCTTCACCTTGGCCTCCAGCTGAATCTTGTTTTTGATCAGCTGATCACAGCGCTCCTCAGCATCTGCCAGGTTGTCTTGTTCCTGAAGGTGAGGAACAGAGGGGAGGCTGTTCAGGGGGTAAGGTCCTCATTCTTGCAGGTAGAGGGAAGGAGAGGCACATCACTCAAATAGGAGGGTAACTCTAGGATATCCCCACTTGGCAAGAGCTTCAGAAGTATGGGGAGGGGAAGAGTTTCAGGATAGTATAACTTGGGAACACTGGGGAGGGGAGCAGAGAGGAAAGGAACCAGAAATCTTCATCTGGACCTCTTCCTCTGGTCTCCTCCATCGAAGGGTGGGAATTGCATTTGCTGATGCCAAGCACTTATGTATGATGGCTTAATGAAATGGACAGCTTTATTCCCTGTCTAGAGGAAATTGAGGCTCAAAGATGATGCATGGTCTGCCCAAGGTCACAAAATAATTAAGCTGTGTATCTAGGTTGAACCCAAGTAGAAAGCCTGTGCTTTTAAAAGTCAGCTCTTTTCCCTCTGCCCTTTCCTCCTCCTGAGGGACCTCTTTGGAGGTCTTTAGAAGTGTTGATCCCAGAGTCCTCTGACTGAAGGAACAAGACAGTGAGCCCCTGTGCAGGGAGGTGCAGGGTTGTGGGAAGTGAAGGCAGAGCAGGGTGGAAGAGCCAACAGTAGCCCAGGAGCCTCACCGCCTGCACTTGGAGCTGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCCTCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCT
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Task1_train_19536
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This genomic variant is located on Chromosome 14, within the MYH7 (myosin heavy chain 7) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Hypertrophic cardiomyopathy
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TGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTG
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TGCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGTGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTG
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Task1_train_19537
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Consider a variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7). Determine its clinical classification and disease relevance.
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Pathogenic; Cardiomyopathy
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCACAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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Task1_train_19538
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Gene MYH7 (myosin heavy chain 7) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Hypertrophic cardiomyopathy 1
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCACAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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Task1_train_19539
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This variant affects gene MYH7 (myosin heavy chain 7) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
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Pathogenic; Myopathy, myosin storage, autosomal recessive
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCACAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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Task1_train_19540
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A variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Myosin storage myopathy
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCACAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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Task1_train_19541
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The gene MYH7 (myosin heavy chain 7) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Dilated cardiomyopathy 1S
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCACAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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Task1_train_19542
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This sequence change occurs on Chromosome 14, altering MYH7 (myosin heavy chain 7). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; MYH7-related skeletal myopathy
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCACAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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Task1_train_19543
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A sequence alteration has been identified in MYH7 (myosin heavy chain 7) on Chromosome 14. Is it disease-inducing or harmless?
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Pathogenic; Cardiovascular phenotype
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCACAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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Task1_train_19544
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This variant affects the gene MYH7 (myosin heavy chain 7) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hypertrophic cardiomyopathy
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCACAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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Task1_train_19545
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This alteration occurs within gene MYH7 (myosin heavy chain 7) located on Chromosome 14. Is it associated with a disease or is it a benign variant?
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Pathogenic; Primary familial hypertrophic cardiomyopathy
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCACAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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Task1_train_19546
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The variant affects gene MYH7 (myosin heavy chain 7), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Hypertrophic cardiomyopathy 1
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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GCAGGTCATTCTTCTCCTGCAGCAGGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCACAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGG
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Task1_train_19547
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A variant affecting Chromosome 14, within the gene MYH7 (myosin heavy chain 7), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Dilated cardiomyopathy 1S
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GGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATG
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GGGACACCATCTTCTCCTCCAGCTCCTTGCGGCGAGCCTCGGACTTCTCTAGCGCCTCTTTGAGGCGTGTGAACTCCTCCTTCATGGAGGCCATCTCCTTCTCTCTTTCTGCACTCTTCAGCAGCGGCTTGATCTTGAAGTAGAGCTTCATCCAGGGCCAATTCTTGACCCCCATGAAGGCCCGAATGTTCCACTGGATTACCAGCAGGGAGTCTCTGCAGGGGCCCATTGAAAGGAGTGCTGAGCCTCCTGCCTCCTTCCTACCTGAGGTCCTGAAACCTTGGGAATATCCCATTTCCTTCATCCCTCCCACCCTTCCTGAGGCCTCTGACCCTGTGACTGCAGTGTGTTCATATGAGCCCCTCCTGCAGGTCTCTGTGTTTGAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCATATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATG
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Task1_train_19548
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Here’s a variant in MYH7 (myosin heavy chain 7) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Cardiovascular phenotype
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GAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCA
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GAAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCTTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCA
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Task1_train_19549
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This is a variant in MYH7 (myosin heavy chain 7), located on Chromosome 14. Is this mutation a likely cause of disease or not?
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Pathogenic; Hypertrophic cardiomyopathy
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AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCAC
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AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCCGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCAC
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Task1_train_19550
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This mutation is located in gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Hypertrophic cardiomyopathy 1
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AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCAC
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AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCCGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCAC
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Task1_train_19551
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This mutation is located in gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Cardiovascular phenotype
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AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCAC
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AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCCGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCAC
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Task1_train_19552
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Consider this mutation in MYH7 (myosin heavy chain 7) on Chromosome 14. Is this a benign change or a disease-causing variant?
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Pathogenic; Primary familial hypertrophic cardiomyopathy
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AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCAC
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AAGATCTGCTGAGCTTTTTTTCCTGACACTGCCCCTGAACCAGCCTGGGCCTCAGAGAAGCGGGAAACCTCCTCTTGAGATCTCTCACCTACGTTCCAGCAGCTTTTTGTACTCCATTCTGGCGAGCACACCTCGGGACTGGGCCTGGATACGCGTGATGATGCGGCTCAGCCTCTCGTCCCTCATTTCCTCCAGCAGCCCCAGCAGCCCGGCCTTGAAGAACACCTGCAGGCAAGGTGTGTGTTGGCCATGACTAGGGAGGGGTACGAGGGAAAGAGATGGTGGGGATTACCTTAGGAAGGGTAACAGCCTAGAAAAGGATTGCAGGGAGGAGGTCAATGGCAGCTGGAGCTGGGATGAGGGGAGTGGTGCTAGATGTTCCACTGGGAGGGGTAGCATACAGGTAAGAGATTTTGCTAAGATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCCGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCAC
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Task1_train_19553
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Consider a variant on Chromosome 14 in gene MYH7 (myosin heavy chain 7). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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ATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGAT
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ATGATTACAACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGCCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGAT
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Task1_train_19554
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A change on Chromosome 14 affects gene MYH7 (myosin heavy chain 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Hypertrophic cardiomyopathy
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ACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGA
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ACAGGAAAAGCATCAGAGGAGTCAATGGAAAAGAGATGTCTTCCTTTAATTAATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAAAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGA
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Task1_train_19555
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This variant affects the gene MYH7 (myosin heavy chain 7) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hypertrophic cardiomyopathy
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AATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTC
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AATTAGTCTCCTTTCCTCACCTTGGTGTGGCCAAACTTGTACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCGGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTC
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Task1_train_19556
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Consider this mutation in MYH7 (myosin heavy chain 7) on Chromosome 14. Is this a benign change or a disease-causing variant?
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Pathogenic; Hypertrophic cardiomyopathy
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TACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGC
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TACTGGTTGTGATCAATGTCCAGGGAGCTGAGCAGCTTCTCTGCCCCCTTCCTGCTATCAATGAACTGTCCCTCAGGGATGGCCGCTGGGTTCAGGATGCGATACCTGAGGAGGGAAGTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCGCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGC
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Task1_train_19557
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Gene MYH7 (myosin heavy chain 7) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Primary dilated cardiomyopathy
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GTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCC
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GTGTCCAGAGTCACCCATGCTCTGCAGTGATCTGCTCTGCCCATAGAATTCCAGGGTCACCTGCAGATCCCATTCCCATCAGGGCAGCCTGGCTCCCCCTGTTCTATGAGCTCTGGTGCACCCTCATACCCACCTCTGCCGGAAGTCCCCGTAGAGGATGCGGTTGGGGAAGCCTTTCCTGCAGATGCGGATGCCCTCCAGCACACCATTGCAGCGCAGCTGGTGCATGACCAGGGGGTTGTCCATCACCCCTGTGGCAAGAAGGAAGTAGGAGGAGTCTGTGAGAACACTGGACTGAAGTTCTGGGTTCTGATCCTGGCTTTGTCACTGATTAGCTTGTAATCTTAGCAAGTCAGTTAGTAATAATCATTTGTTTCATTTTCTTCTAGCCACATTTTTAACTAAAAGGCTTTCACATTCCTTTTTTATATGATTCACACCTATTATCATAGGTGGTAGCCAGAACAGATATATCCAATGTTCTAGATGAGTAAATTAAGCCCAGAGGGGTTATGGGACTGGCCCAAGTTCACTAAGCTGATCAAGAACAGAGCCAGGTCTTGAACCCAGGTCCCTGAGCCTCTGTCTCCTAATTAGCCAAAAATGGATTAACAATTTGAATATGTCTCATTGGGGGATTAAGTGGTTCTGCAGGTAAATTTAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGGCATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCC
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Task1_train_19558
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This sequence variant lies in MYH7 (myosin heavy chain 7) on Chromosome 14. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Hypertrophic cardiomyopathy 1
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TAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCA
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TAAAGTTGAACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCACAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCA
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Task1_train_19559
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A mutation in MYH7 (myosin heavy chain 7), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Familial cardiomyopathy
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AACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGA
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AACTAAGATTCTGTCTTGGACAACCAGCTATCCAAGGGGTTGTAGGGCCACTGATGAGGTAATGTCCATCAGAGTGCCTTACACATCACCCTCATTACACACTGCAAGTGCAAGGTAGCGCTGAGAGGGAGGTACCCTGGGAGGCCTCATGCGGGATGGGAGGAGAAGAATGTGGTTTGGAAACCACTGTGGTGGTAGGTAGGGAGATGTCCTAGGAGGTCCTGTTCCCAGGGCGGTGTATGCCCAGCAGTGGGTTGGCCTGAGTTTGTGGCCTCACCTGGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGTTGGTCATCAGCTTGTTCAGATTTTCCTGTGGCCAAAAATGCAATAGAGAAAAGTAAAGAAAATGCCAGAAAGAGATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATTAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGA
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Task1_train_19560
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A variant was discovered in gene MYH7 (myosin heavy chain 7), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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ATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAG
|
ATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGGTCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAG
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Task1_train_19561
|
The gene MYH7 (myosin heavy chain 7) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Hypertrophic cardiomyopathy
|
ATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAG
|
ATGCAGGAAGAAGAGAGGAGAAGAAGGAAGGAAAAGAGAGATGGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGTTCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAG
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Task1_train_19562
|
This variant affects gene MYH7 (myosin heavy chain 7) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hypertrophic cardiomyopathy
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GGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCA
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GGAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGTGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCA
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Task1_train_19563
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This alteration in MYH7 (myosin heavy chain 7) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Hypertrophic cardiomyopathy
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GAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCAC
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GAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCATGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCAC
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Task1_train_19564
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The gene MYH7 (myosin heavy chain 7) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Hypertrophic cardiomyopathy
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GAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCAC
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GAGAGAATTCGAGAAGTCACAGAGATGAAGGGGCCCTGGGGGCAGACAGGGATAAGGAGAGAGGGTGGGAGACAGAAGGGAAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCTTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCAC
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Task1_train_19565
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This mutation occurs in MYH7 (myosin heavy chain 7) on Chromosome 14. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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AAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAA
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AAAGAGGAGAGAAGGGAGATGGGAAGTAAATAAGTGAAGAGGCCAGGAGATGACGGGAAGAGAAGACAGAGTGAAAATGGTCCCGAATGCACCAAGGAGACAGGGAACGGGAGGAGTAGGGGATGAACAAGGCAGGGAAGGGTGGGGCTGGGTGGGGTTGGGCAGATGGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTACCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAA
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Task1_train_19566
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A variant was discovered on Chromosome 14, affecting MYH7 (myosin heavy chain 7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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GGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAG
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GGGGAGCCAAGTTGGCTGGGGCTGTGTCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGAGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAG
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Task1_train_19567
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This is a variant in MYH7 (myosin heavy chain 7), located on Chromosome 14. Is this mutation a likely cause of disease or not?
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Pathogenic; Hypertrophic cardiomyopathy
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TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACA
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TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCAGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACA
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Task1_train_19568
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Gene MYH7 (myosin heavy chain 7) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Cardiovascular phenotype
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TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACA
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TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCAGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACA
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Task1_train_19569
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A change on Chromosome 14 affects gene MYH7 (myosin heavy chain 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Hypertrophic cardiomyopathy
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TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACA
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TCCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCTGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACA
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Task1_train_19570
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Assess the clinical impact of this variant on gene MYH7 (myosin heavy chain 7), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Hypertrophic cardiomyopathy
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CCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAG
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CCCACTCACCCTGTGCAGAGCTGACACAGTCTGAAAGGACGAGCCTTTCTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCAAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAG
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Task1_train_19571
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This mutation is located in gene MYH7 (myosin heavy chain 7) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Hypertrophic cardiomyopathy
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CTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGC
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CTTGGCCTTGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAAGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGC
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Task1_train_19572
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A change on Chromosome 14 affects gene MYH7 (myosin heavy chain 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Familial cardiomyopathy
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TGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGA
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TGCCTTTGCCCTTCTCAATAGCTGCAGGAAGGAGAGTCAACAAAAGAAGCATCAGTGTGGGGAGGTAGGGTGTGAGTAAAGAATCACAGCCCCTCTTTACATCCTTGCTGGCATTTGGCCCCTGGGTGAGGGCCTTCAATGTGGCTGCCTCAGTTTCTTCACCCAGTTCCATCCCACTGAGTCTGTAAACCTTGGGGTACAACCTGACATTGAAGTGGTGGGGTGTAGCAATTGACCTGGCTCAGAACCTTGGCAGAATCCCTGCTCCTCTGTACCGGGAGCCTCAGTCCCTACTTACGCGCATCAGCCCCAGCATAGTTGGCAAACAGGGTGCTGAGCAGCTTGAGGGAAGACTTCTGATACAAGCCCACGACAGTCTCATTGAGAGGATCCTTGTTCTTCTGCAGCCAGCCAATGATGTTGTAGTCCACGATGCCGGCATAGTGGATCAGGGAGAAGTGGGCTTCAGGCTTCCCCTTGATATTGCGTGGCTTCTGGAAGTTGGCGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCATACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGA
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Task1_train_19573
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This sequence variant lies in MYH7 (myosin heavy chain 7) on Chromosome 14. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Familial cardiomyopathy
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CGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTCCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAAGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTT
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CGGATTTGCCCAGGTGGTTGTCAAACAGCTTGGCCTTGAAGGTCATGTCGGTGGCCTTGGGGAACATGCACTCCTCTTCCAGGATGGACATGATGCCCATGGGCTGAGGAAGCAGGAGAGAGCATCACTGAGTGTCCTTCACACAGGTGGACATGGATTCTGCTCTATGGTCAATATACTTGCTCGTGGAGGTGCCATGTTGGGTGTTAAGGTAGTAGGCTCAGCTCTGAGTACAGTTATCTACTGACTGGAACCGGTTCAAGGTGGAGGATTTTGTCTGATGACAGAAGGACCTTTGTGAAAGTCTGGGAATATGGATTCTATCGATGCTGTACACACCACTCCACGACCCAGATGCCTGAGATGCTAGGGTTGAAAATAGGTGCACTCTTATGATCCCCTACACCACCCTCACACTTCCTGATCCTTGGATGCATAAACCAGGCCCAATAAACATGCAGGTGTGGGAGGTCATCATGCAGGTGCCCATCCTCCATGTGTCCACTTTCAAGCCCCTGGGAAATCAGCTGTCCCTGGTGCCACCCTGTCCTGGGTGCTCAGCACAACATAGGCTCTGGAACCAAGGGCTCGGATCCTTCAGCCCCTTCTATTTTTATATTCCCCAGAAGGGAGAGGGGCTGCTATTTTGTCTATGGTGTTCTTGTTGGGTGTGCAGGGAGAATTCAGGTGGTAAGGCCAAAGAGGCACCTTCTCGATGAGGTCAATGCAGGCCTGCAGGTCCATGCCAAAGTCAATGAATGTCCACTCGATGCCCTCCTTCTTGTACTCCTCCTGCTCCAGCACAAACATGTGGTGGTTGAAGAACTGCTGCAGCTTCTCGTTGGTGAAGTTGATGCAGAGCTGCTCAAAGCTGTTGAACTGCAGGGGGCATGAGGGGTGGGAGCAGTCAGAAAGTGGGTGTGAGTGGCCATTGGGGCTGTGCCCGTCCACTGTGCCTGAGCCCAGCAGGGCGTGGCTGGTCCCCTCCATGTCAAGGCAGTGAAGGAGGGCTTCCCCTGAAGACAGAGAAAATGACTGCCTCTGTCACCACACAGTCCCCACTGCCTTCCCATGTCTGGTCCACAGCTGGCTCTAAGCAAATAGCTGTTGAATGTGGGAGCGAGTGAGTGATTGTTCTCCCACTCCCAGGGGTCCCAACTCACATCGAAGATCTCGAAGCCAGCGATGTCCAGGACTCCTATGAAGTACTGGCGTGGCTGCTTGGTCTCCAGGGTGGCATTGATGCGCGTCACCATCCAGTTGAACATCCTCTCATACACTGCCTTGGCCAGTGCCCCAGTGGCATATATCACCTGCAAGGTGGAGGAGAGACCCATATTGAGCAGGGTTGTTGGGAAGAGTGAACTTGAAAACTCTCATCCCACCATGCCAGTCTCCCTACCCTGCCCACCCATTATCATCTGAAGATGGACCCACCTGCTGGACATTCTGCCCCTTGGTGACGTACTCATTGCCCACTTTCACCCGAGGGTGGCACAGCCCCTTGAGCAGGTCGGCTGAGTTCAGCCCCATGAGGTAGGCAGACTTGTCAGCCTCTGGAAGGAAAAGGCAAGTAGCAAAGTTGGTAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGAGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTCCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAAGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTT
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Task1_train_19574
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The gene MYH7 (myosin heavy chain 7), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Hypertrophic cardiomyopathy
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TAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTCCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAAGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTTATTGGGCAGTGAACAATACTACTGGAGACCAGCAAGCCTCAAATCAGGAGAGAATGCCTGGGCCTACCCGAGAGTAGGAGCCCTGGGCAAGAAGCTGCCAGGTTATCTACACCCAAAATCCACAACTGTCTTCTGATGCACAGAGGTCAGGGCTGGCACCAGGAAGGATGCCACCAGAAGGCACTGGTTTGGGCAGGCTGAGCCTGTGCTTGGCTGGGCAAAGTAAACAGGGGAGATGGGCCTGGGCTGTTTTGGGAAAAGTTGGTAGGGCTGGAAGAATGGGAAATGTTTCTGAAGGGAAAGAAAATGCAGAGGTGAAGACATGGCGATAATGAGCTTCTGGATAAACGCGTGATGAGTTGGAGAGTGGGTGAAGGAGGTGGGAGAGGAAAAACATGAAGGGGATGGAAAGCAGAAAGGAAGAGGGAGAGCAAAGAGAGGGGTCAGGGTAATGGTCAGAGAAGAAGGAGATGGGCACGAGGTTGGGGGGAAAGAGGCTGAGTCTATGCCTCGGGGCCTGGGACACCTGATGGGGCTGGAGGCTGGGATCAGGGAGATTCTGAAAGGGAATACAGTAGCAGCTACACTCACGTGATCAGGATGGACTGGTTTTCTCTGTCTGTGGGGAGAGGGTGGGGAGGAAAGGTCAGGAGCTGCACAGGATGCTCTCGTGGGGCTTCTCCCTTCCTTCTCCCTCTCCCTCCCGGCCTATCCCAGTTCCCTTCAGGAAGACCCTTCCAGGGCCTCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCGCTCCTCTTCTTGCCCCGGTAGGCAGCCACCACCTCAGGAGTGTACACCGGCAGCCACTTGTAAGGGTTGACGGTGACACAGAAGAGGCCCGAGTAGGTCTGGGGATAGAAAAGGAGCAGTGACTTGCCAGTTGCGAAGGGGGAGGGCTGGTGATTTTGGGAGTTAGAGAAAGATCCCAGGAGAGAAAGAAGAGAAAGGAAAACCTCTGCATGCACTCAATCTGAGTAATGCCAGTCCCCAGAGTGTTGGAATTGAACCAAGGATGTTGGGACGAGGTTAGAGTGTAACCCTGCCTAGACACAAACAGAAGACACTCTTGGCTCCTGGGGTGGACATGGATGGAGCAAGAACAGAGATCCCAACGTAGGGCCAGGTGCAGCACTCACGTAGATCATCCAGGAGCCGTAGCGATCCTTGAGGTTGTAGAGCACCGCGGGCTCATGCAGGAAGGTCAGCATGGCCATGTCCTCGATTTTGTCGAACTTGGGTGGGTTCTGCTGCATCACCTGGTCCTCCTTCACGGTCACTGTCTGCAAGAGCCCCCACCCAAGCCCTCCTGTCAGCCTGGGCTTTCCCTCCTTCCTCAAGAGGGTTAGGAGTTGGTGAGTGACAGGGCAATAGTGCTCAAGAGAGAAGGAACCAGGATCTCACAGGGAAGACAGAAGGGATATTGGGAAGGAGAGGGCTCTTTGGAGGGTCTGGATTCTTCCCCAAAGGGAAGGAGAATGGGACCATCCTCAGGTCTGCATGGGCATGGGGCATGGGTGTACCCCTCT
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TAAAGAGATGACTGCTGGCCAGGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTGTGTCTGCAGATGCCAACTTTCCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAAGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTTATTGGGCAGTGAACAATACTACTGGAGACCAGCAAGCCTCAAATCAGGAGAGAATGCCTGGGCCTACCCGAGAGTAGGAGCCCTGGGCAAGAAGCTGCCAGGTTATCTACACCCAAAATCCACAACTGTCTTCTGATGCACAGAGGTCAGGGCTGGCACCAGGAAGGATGCCACCAGAAGGCACTGGTTTGGGCAGGCTGAGCCTGTGCTTGGCTGGGCAAAGTAAACAGGGGAGATGGGCCTGGGCTGTTTTGGGAAAAGTTGGTAGGGCTGGAAGAATGGGAAATGTTTCTGAAGGGAAAGAAAATGCAGAGGTGAAGACATGGCGATAATGAGCTTCTGGATAAACGCGTGATGAGTTGGAGAGTGGGTGAAGGAGGTGGGAGAGGAAAAACATGAAGGGGATGGAAAGCAGAAAGGAAGAGGGAGAGCAAAGAGAGGGGTCAGGGTAATGGTCAGAGAAGAAGGAGATGGGCACGAGGTTGGGGGGAAAGAGGCTGAGTCTATGCCTCGGGGCCTGGGACACCTGATGGGGCTGGAGGCTGGGATCAGGGAGATTCTGAAAGGGAATACAGTAGCAGCTACACTCACGTGATCAGGATGGACTGGTTTTCTCTGTCTGTGGGGAGAGGGTGGGGAGGAAAGGTCAGGAGCTGCACAGGATGCTCTCGTGGGGCTTCTCCCTTCCTTCTCCCTCTCCCTCCCGGCCTATCCCAGTTCCCTTCAGGAAGACCCTTCCAGGGCCTCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCGCTCCTCTTCTTGCCCCGGTAGGCAGCCACCACCTCAGGAGTGTACACCGGCAGCCACTTGTAAGGGTTGACGGTGACACAGAAGAGGCCCGAGTAGGTCTGGGGATAGAAAAGGAGCAGTGACTTGCCAGTTGCGAAGGGGGAGGGCTGGTGATTTTGGGAGTTAGAGAAAGATCCCAGGAGAGAAAGAAGAGAAAGGAAAACCTCTGCATGCACTCAATCTGAGTAATGCCAGTCCCCAGAGTGTTGGAATTGAACCAAGGATGTTGGGACGAGGTTAGAGTGTAACCCTGCCTAGACACAAACAGAAGACACTCTTGGCTCCTGGGGTGGACATGGATGGAGCAAGAACAGAGATCCCAACGTAGGGCCAGGTGCAGCACTCACGTAGATCATCCAGGAGCCGTAGCGATCCTTGAGGTTGTAGAGCACCGCGGGCTCATGCAGGAAGGTCAGCATGGCCATGTCCTCGATTTTGTCGAACTTGGGTGGGTTCTGCTGCATCACCTGGTCCTCCTTCACGGTCACTGTCTGCAAGAGCCCCCACCCAAGCCCTCCTGTCAGCCTGGGCTTTCCCTCCTTCCTCAAGAGGGTTAGGAGTTGGTGAGTGACAGGGCAATAGTGCTCAAGAGAGAAGGAACCAGGATCTCACAGGGAAGACAGAAGGGATATTGGGAAGGAGAGGGCTCTTTGGAGGGTCTGGATTCTTCCCCAAAGGGAAGGAGAATGGGACCATCCTCAGGTCTGCATGGGCATGGGGCATGGGTGTACCCCTCT
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Task1_train_19575
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This variant lies on Chromosome 14 and affects the gene MYH7 (myosin heavy chain 7). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Hypertrophic cardiomyopathy
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GGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTCCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAAGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTTATTGGGCAGTGAACAATACTACTGGAGACCAGCAAGCCTCAAATCAGGAGAGAATGCCTGGGCCTACCCGAGAGTAGGAGCCCTGGGCAAGAAGCTGCCAGGTTATCTACACCCAAAATCCACAACTGTCTTCTGATGCACAGAGGTCAGGGCTGGCACCAGGAAGGATGCCACCAGAAGGCACTGGTTTGGGCAGGCTGAGCCTGTGCTTGGCTGGGCAAAGTAAACAGGGGAGATGGGCCTGGGCTGTTTTGGGAAAAGTTGGTAGGGCTGGAAGAATGGGAAATGTTTCTGAAGGGAAAGAAAATGCAGAGGTGAAGACATGGCGATAATGAGCTTCTGGATAAACGCGTGATGAGTTGGAGAGTGGGTGAAGGAGGTGGGAGAGGAAAAACATGAAGGGGATGGAAAGCAGAAAGGAAGAGGGAGAGCAAAGAGAGGGGTCAGGGTAATGGTCAGAGAAGAAGGAGATGGGCACGAGGTTGGGGGGAAAGAGGCTGAGTCTATGCCTCGGGGCCTGGGACACCTGATGGGGCTGGAGGCTGGGATCAGGGAGATTCTGAAAGGGAATACAGTAGCAGCTACACTCACGTGATCAGGATGGACTGGTTTTCTCTGTCTGTGGGGAGAGGGTGGGGAGGAAAGGTCAGGAGCTGCACAGGATGCTCTCGTGGGGCTTCTCCCTTCCTTCTCCCTCTCCCTCCCGGCCTATCCCAGTTCCCTTCAGGAAGACCCTTCCAGGGCCTCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCGCTCCTCTTCTTGCCCCGGTAGGCAGCCACCACCTCAGGAGTGTACACCGGCAGCCACTTGTAAGGGTTGACGGTGACACAGAAGAGGCCCGAGTAGGTCTGGGGATAGAAAAGGAGCAGTGACTTGCCAGTTGCGAAGGGGGAGGGCTGGTGATTTTGGGAGTTAGAGAAAGATCCCAGGAGAGAAAGAAGAGAAAGGAAAACCTCTGCATGCACTCAATCTGAGTAATGCCAGTCCCCAGAGTGTTGGAATTGAACCAAGGATGTTGGGACGAGGTTAGAGTGTAACCCTGCCTAGACACAAACAGAAGACACTCTTGGCTCCTGGGGTGGACATGGATGGAGCAAGAACAGAGATCCCAACGTAGGGCCAGGTGCAGCACTCACGTAGATCATCCAGGAGCCGTAGCGATCCTTGAGGTTGTAGAGCACCGCGGGCTCATGCAGGAAGGTCAGCATGGCCATGTCCTCGATTTTGTCGAACTTGGGTGGGTTCTGCTGCATCACCTGGTCCTCCTTCACGGTCACTGTCTGCAAGAGCCCCCACCCAAGCCCTCCTGTCAGCCTGGGCTTTCCCTCCTTCCTCAAGAGGGTTAGGAGTTGGTGAGTGACAGGGCAATAGTGCTCAAGAGAGAAGGAACCAGGATCTCACAGGGAAGACAGAAGGGATATTGGGAAGGAGAGGGCTCTTTGGAGGGTCTGGATTCTTCCCCAAAGGGAAGGAGAATGGGACCATCCTCAGGTCTGCATGGGCATGGGGCATGGGTGTACCCCTCTCTGTCCACCCAGGTGTACAGG
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GGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTTCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAAGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTTATTGGGCAGTGAACAATACTACTGGAGACCAGCAAGCCTCAAATCAGGAGAGAATGCCTGGGCCTACCCGAGAGTAGGAGCCCTGGGCAAGAAGCTGCCAGGTTATCTACACCCAAAATCCACAACTGTCTTCTGATGCACAGAGGTCAGGGCTGGCACCAGGAAGGATGCCACCAGAAGGCACTGGTTTGGGCAGGCTGAGCCTGTGCTTGGCTGGGCAAAGTAAACAGGGGAGATGGGCCTGGGCTGTTTTGGGAAAAGTTGGTAGGGCTGGAAGAATGGGAAATGTTTCTGAAGGGAAAGAAAATGCAGAGGTGAAGACATGGCGATAATGAGCTTCTGGATAAACGCGTGATGAGTTGGAGAGTGGGTGAAGGAGGTGGGAGAGGAAAAACATGAAGGGGATGGAAAGCAGAAAGGAAGAGGGAGAGCAAAGAGAGGGGTCAGGGTAATGGTCAGAGAAGAAGGAGATGGGCACGAGGTTGGGGGGAAAGAGGCTGAGTCTATGCCTCGGGGCCTGGGACACCTGATGGGGCTGGAGGCTGGGATCAGGGAGATTCTGAAAGGGAATACAGTAGCAGCTACACTCACGTGATCAGGATGGACTGGTTTTCTCTGTCTGTGGGGAGAGGGTGGGGAGGAAAGGTCAGGAGCTGCACAGGATGCTCTCGTGGGGCTTCTCCCTTCCTTCTCCCTCTCCCTCCCGGCCTATCCCAGTTCCCTTCAGGAAGACCCTTCCAGGGCCTCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCGCTCCTCTTCTTGCCCCGGTAGGCAGCCACCACCTCAGGAGTGTACACCGGCAGCCACTTGTAAGGGTTGACGGTGACACAGAAGAGGCCCGAGTAGGTCTGGGGATAGAAAAGGAGCAGTGACTTGCCAGTTGCGAAGGGGGAGGGCTGGTGATTTTGGGAGTTAGAGAAAGATCCCAGGAGAGAAAGAAGAGAAAGGAAAACCTCTGCATGCACTCAATCTGAGTAATGCCAGTCCCCAGAGTGTTGGAATTGAACCAAGGATGTTGGGACGAGGTTAGAGTGTAACCCTGCCTAGACACAAACAGAAGACACTCTTGGCTCCTGGGGTGGACATGGATGGAGCAAGAACAGAGATCCCAACGTAGGGCCAGGTGCAGCACTCACGTAGATCATCCAGGAGCCGTAGCGATCCTTGAGGTTGTAGAGCACCGCGGGCTCATGCAGGAAGGTCAGCATGGCCATGTCCTCGATTTTGTCGAACTTGGGTGGGTTCTGCTGCATCACCTGGTCCTCCTTCACGGTCACTGTCTGCAAGAGCCCCCACCCAAGCCCTCCTGTCAGCCTGGGCTTTCCCTCCTTCCTCAAGAGGGTTAGGAGTTGGTGAGTGACAGGGCAATAGTGCTCAAGAGAGAAGGAACCAGGATCTCACAGGGAAGACAGAAGGGATATTGGGAAGGAGAGGGCTCTTTGGAGGGTCTGGATTCTTCCCCAAAGGGAAGGAGAATGGGACCATCCTCAGGTCTGCATGGGCATGGGGCATGGGTGTACCCCTCTCTGTCCACCCAGGTGTACAGG
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Task1_train_19576
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Gene MYH7 (myosin heavy chain 7), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Cardiovascular phenotype
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GGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTCCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAAGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTTATTGGGCAGTGAACAATACTACTGGAGACCAGCAAGCCTCAAATCAGGAGAGAATGCCTGGGCCTACCCGAGAGTAGGAGCCCTGGGCAAGAAGCTGCCAGGTTATCTACACCCAAAATCCACAACTGTCTTCTGATGCACAGAGGTCAGGGCTGGCACCAGGAAGGATGCCACCAGAAGGCACTGGTTTGGGCAGGCTGAGCCTGTGCTTGGCTGGGCAAAGTAAACAGGGGAGATGGGCCTGGGCTGTTTTGGGAAAAGTTGGTAGGGCTGGAAGAATGGGAAATGTTTCTGAAGGGAAAGAAAATGCAGAGGTGAAGACATGGCGATAATGAGCTTCTGGATAAACGCGTGATGAGTTGGAGAGTGGGTGAAGGAGGTGGGAGAGGAAAAACATGAAGGGGATGGAAAGCAGAAAGGAAGAGGGAGAGCAAAGAGAGGGGTCAGGGTAATGGTCAGAGAAGAAGGAGATGGGCACGAGGTTGGGGGGAAAGAGGCTGAGTCTATGCCTCGGGGCCTGGGACACCTGATGGGGCTGGAGGCTGGGATCAGGGAGATTCTGAAAGGGAATACAGTAGCAGCTACACTCACGTGATCAGGATGGACTGGTTTTCTCTGTCTGTGGGGAGAGGGTGGGGAGGAAAGGTCAGGAGCTGCACAGGATGCTCTCGTGGGGCTTCTCCCTTCCTTCTCCCTCTCCCTCCCGGCCTATCCCAGTTCCCTTCAGGAAGACCCTTCCAGGGCCTCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCGCTCCTCTTCTTGCCCCGGTAGGCAGCCACCACCTCAGGAGTGTACACCGGCAGCCACTTGTAAGGGTTGACGGTGACACAGAAGAGGCCCGAGTAGGTCTGGGGATAGAAAAGGAGCAGTGACTTGCCAGTTGCGAAGGGGGAGGGCTGGTGATTTTGGGAGTTAGAGAAAGATCCCAGGAGAGAAAGAAGAGAAAGGAAAACCTCTGCATGCACTCAATCTGAGTAATGCCAGTCCCCAGAGTGTTGGAATTGAACCAAGGATGTTGGGACGAGGTTAGAGTGTAACCCTGCCTAGACACAAACAGAAGACACTCTTGGCTCCTGGGGTGGACATGGATGGAGCAAGAACAGAGATCCCAACGTAGGGCCAGGTGCAGCACTCACGTAGATCATCCAGGAGCCGTAGCGATCCTTGAGGTTGTAGAGCACCGCGGGCTCATGCAGGAAGGTCAGCATGGCCATGTCCTCGATTTTGTCGAACTTGGGTGGGTTCTGCTGCATCACCTGGTCCTCCTTCACGGTCACTGTCTGCAAGAGCCCCCACCCAAGCCCTCCTGTCAGCCTGGGCTTTCCCTCCTTCCTCAAGAGGGTTAGGAGTTGGTGAGTGACAGGGCAATAGTGCTCAAGAGAGAAGGAACCAGGATCTCACAGGGAAGACAGAAGGGATATTGGGAAGGAGAGGGCTCTTTGGAGGGTCTGGATTCTTCCCCAAAGGGAAGGAGAATGGGACCATCCTCAGGTCTGCATGGGCATGGGGCATGGGTGTACCCCTCTCTGTCCACCCAGGTGTACAGG
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GGTGTGGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTTCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAAGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTTATTGGGCAGTGAACAATACTACTGGAGACCAGCAAGCCTCAAATCAGGAGAGAATGCCTGGGCCTACCCGAGAGTAGGAGCCCTGGGCAAGAAGCTGCCAGGTTATCTACACCCAAAATCCACAACTGTCTTCTGATGCACAGAGGTCAGGGCTGGCACCAGGAAGGATGCCACCAGAAGGCACTGGTTTGGGCAGGCTGAGCCTGTGCTTGGCTGGGCAAAGTAAACAGGGGAGATGGGCCTGGGCTGTTTTGGGAAAAGTTGGTAGGGCTGGAAGAATGGGAAATGTTTCTGAAGGGAAAGAAAATGCAGAGGTGAAGACATGGCGATAATGAGCTTCTGGATAAACGCGTGATGAGTTGGAGAGTGGGTGAAGGAGGTGGGAGAGGAAAAACATGAAGGGGATGGAAAGCAGAAAGGAAGAGGGAGAGCAAAGAGAGGGGTCAGGGTAATGGTCAGAGAAGAAGGAGATGGGCACGAGGTTGGGGGGAAAGAGGCTGAGTCTATGCCTCGGGGCCTGGGACACCTGATGGGGCTGGAGGCTGGGATCAGGGAGATTCTGAAAGGGAATACAGTAGCAGCTACACTCACGTGATCAGGATGGACTGGTTTTCTCTGTCTGTGGGGAGAGGGTGGGGAGGAAAGGTCAGGAGCTGCACAGGATGCTCTCGTGGGGCTTCTCCCTTCCTTCTCCCTCTCCCTCCCGGCCTATCCCAGTTCCCTTCAGGAAGACCCTTCCAGGGCCTCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCGCTCCTCTTCTTGCCCCGGTAGGCAGCCACCACCTCAGGAGTGTACACCGGCAGCCACTTGTAAGGGTTGACGGTGACACAGAAGAGGCCCGAGTAGGTCTGGGGATAGAAAAGGAGCAGTGACTTGCCAGTTGCGAAGGGGGAGGGCTGGTGATTTTGGGAGTTAGAGAAAGATCCCAGGAGAGAAAGAAGAGAAAGGAAAACCTCTGCATGCACTCAATCTGAGTAATGCCAGTCCCCAGAGTGTTGGAATTGAACCAAGGATGTTGGGACGAGGTTAGAGTGTAACCCTGCCTAGACACAAACAGAAGACACTCTTGGCTCCTGGGGTGGACATGGATGGAGCAAGAACAGAGATCCCAACGTAGGGCCAGGTGCAGCACTCACGTAGATCATCCAGGAGCCGTAGCGATCCTTGAGGTTGTAGAGCACCGCGGGCTCATGCAGGAAGGTCAGCATGGCCATGTCCTCGATTTTGTCGAACTTGGGTGGGTTCTGCTGCATCACCTGGTCCTCCTTCACGGTCACTGTCTGCAAGAGCCCCCACCCAAGCCCTCCTGTCAGCCTGGGCTTTCCCTCCTTCCTCAAGAGGGTTAGGAGTTGGTGAGTGACAGGGCAATAGTGCTCAAGAGAGAAGGAACCAGGATCTCACAGGGAAGACAGAAGGGATATTGGGAAGGAGAGGGCTCTTTGGAGGGTCTGGATTCTTCCCCAAAGGGAAGGAGAATGGGACCATCCTCAGGTCTGCATGGGCATGGGGCATGGGTGTACCCCTCTCTGTCCACCCAGGTGTACAGG
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Task1_train_19577
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A mutation on Chromosome 14 affecting MYH7 (myosin heavy chain 7) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Hypertrophic cardiomyopathy
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GTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTCCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAAGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTTATTGGGCAGTGAACAATACTACTGGAGACCAGCAAGCCTCAAATCAGGAGAGAATGCCTGGGCCTACCCGAGAGTAGGAGCCCTGGGCAAGAAGCTGCCAGGTTATCTACACCCAAAATCCACAACTGTCTTCTGATGCACAGAGGTCAGGGCTGGCACCAGGAAGGATGCCACCAGAAGGCACTGGTTTGGGCAGGCTGAGCCTGTGCTTGGCTGGGCAAAGTAAACAGGGGAGATGGGCCTGGGCTGTTTTGGGAAAAGTTGGTAGGGCTGGAAGAATGGGAAATGTTTCTGAAGGGAAAGAAAATGCAGAGGTGAAGACATGGCGATAATGAGCTTCTGGATAAACGCGTGATGAGTTGGAGAGTGGGTGAAGGAGGTGGGAGAGGAAAAACATGAAGGGGATGGAAAGCAGAAAGGAAGAGGGAGAGCAAAGAGAGGGGTCAGGGTAATGGTCAGAGAAGAAGGAGATGGGCACGAGGTTGGGGGGAAAGAGGCTGAGTCTATGCCTCGGGGCCTGGGACACCTGATGGGGCTGGAGGCTGGGATCAGGGAGATTCTGAAAGGGAATACAGTAGCAGCTACACTCACGTGATCAGGATGGACTGGTTTTCTCTGTCTGTGGGGAGAGGGTGGGGAGGAAAGGTCAGGAGCTGCACAGGATGCTCTCGTGGGGCTTCTCCCTTCCTTCTCCCTCTCCCTCCCGGCCTATCCCAGTTCCCTTCAGGAAGACCCTTCCAGGGCCTCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCGCTCCTCTTCTTGCCCCGGTAGGCAGCCACCACCTCAGGAGTGTACACCGGCAGCCACTTGTAAGGGTTGACGGTGACACAGAAGAGGCCCGAGTAGGTCTGGGGATAGAAAAGGAGCAGTGACTTGCCAGTTGCGAAGGGGGAGGGCTGGTGATTTTGGGAGTTAGAGAAAGATCCCAGGAGAGAAAGAAGAGAAAGGAAAACCTCTGCATGCACTCAATCTGAGTAATGCCAGTCCCCAGAGTGTTGGAATTGAACCAAGGATGTTGGGACGAGGTTAGAGTGTAACCCTGCCTAGACACAAACAGAAGACACTCTTGGCTCCTGGGGTGGACATGGATGGAGCAAGAACAGAGATCCCAACGTAGGGCCAGGTGCAGCACTCACGTAGATCATCCAGGAGCCGTAGCGATCCTTGAGGTTGTAGAGCACCGCGGGCTCATGCAGGAAGGTCAGCATGGCCATGTCCTCGATTTTGTCGAACTTGGGTGGGTTCTGCTGCATCACCTGGTCCTCCTTCACGGTCACTGTCTGCAAGAGCCCCCACCCAAGCCCTCCTGTCAGCCTGGGCTTTCCCTCCTTCCTCAAGAGGGTTAGGAGTTGGTGAGTGACAGGGCAATAGTGCTCAAGAGAGAAGGAACCAGGATCTCACAGGGAAGACAGAAGGGATATTGGGAAGGAGAGGGCTCTTTGGAGGGTCTGGATTCTTCCCCAAAGGGAAGGAGAATGGGACCATCCTCAGGTCTGCATGGGCATGGGGCATGGGTGTACCCCTCTCTGTCCACCCAGGTGTACAGGTGGCCA
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GTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTCCTGTTTCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAAGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTTATTGGGCAGTGAACAATACTACTGGAGACCAGCAAGCCTCAAATCAGGAGAGAATGCCTGGGCCTACCCGAGAGTAGGAGCCCTGGGCAAGAAGCTGCCAGGTTATCTACACCCAAAATCCACAACTGTCTTCTGATGCACAGAGGTCAGGGCTGGCACCAGGAAGGATGCCACCAGAAGGCACTGGTTTGGGCAGGCTGAGCCTGTGCTTGGCTGGGCAAAGTAAACAGGGGAGATGGGCCTGGGCTGTTTTGGGAAAAGTTGGTAGGGCTGGAAGAATGGGAAATGTTTCTGAAGGGAAAGAAAATGCAGAGGTGAAGACATGGCGATAATGAGCTTCTGGATAAACGCGTGATGAGTTGGAGAGTGGGTGAAGGAGGTGGGAGAGGAAAAACATGAAGGGGATGGAAAGCAGAAAGGAAGAGGGAGAGCAAAGAGAGGGGTCAGGGTAATGGTCAGAGAAGAAGGAGATGGGCACGAGGTTGGGGGGAAAGAGGCTGAGTCTATGCCTCGGGGCCTGGGACACCTGATGGGGCTGGAGGCTGGGATCAGGGAGATTCTGAAAGGGAATACAGTAGCAGCTACACTCACGTGATCAGGATGGACTGGTTTTCTCTGTCTGTGGGGAGAGGGTGGGGAGGAAAGGTCAGGAGCTGCACAGGATGCTCTCGTGGGGCTTCTCCCTTCCTTCTCCCTCTCCCTCCCGGCCTATCCCAGTTCCCTTCAGGAAGACCCTTCCAGGGCCTCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCGCTCCTCTTCTTGCCCCGGTAGGCAGCCACCACCTCAGGAGTGTACACCGGCAGCCACTTGTAAGGGTTGACGGTGACACAGAAGAGGCCCGAGTAGGTCTGGGGATAGAAAAGGAGCAGTGACTTGCCAGTTGCGAAGGGGGAGGGCTGGTGATTTTGGGAGTTAGAGAAAGATCCCAGGAGAGAAAGAAGAGAAAGGAAAACCTCTGCATGCACTCAATCTGAGTAATGCCAGTCCCCAGAGTGTTGGAATTGAACCAAGGATGTTGGGACGAGGTTAGAGTGTAACCCTGCCTAGACACAAACAGAAGACACTCTTGGCTCCTGGGGTGGACATGGATGGAGCAAGAACAGAGATCCCAACGTAGGGCCAGGTGCAGCACTCACGTAGATCATCCAGGAGCCGTAGCGATCCTTGAGGTTGTAGAGCACCGCGGGCTCATGCAGGAAGGTCAGCATGGCCATGTCCTCGATTTTGTCGAACTTGGGTGGGTTCTGCTGCATCACCTGGTCCTCCTTCACGGTCACTGTCTGCAAGAGCCCCCACCCAAGCCCTCCTGTCAGCCTGGGCTTTCCCTCCTTCCTCAAGAGGGTTAGGAGTTGGTGAGTGACAGGGCAATAGTGCTCAAGAGAGAAGGAACCAGGATCTCACAGGGAAGACAGAAGGGATATTGGGAAGGAGAGGGCTCTTTGGAGGGTCTGGATTCTTCCCCAAAGGGAAGGAGAATGGGACCATCCTCAGGTCTGCATGGGCATGGGGCATGGGTGTACCCCTCTCTGTCCACCCAGGTGTACAGGTGGCCA
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Task1_train_19578
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A variant was discovered on Chromosome 14, affecting MYH7 (myosin heavy chain 7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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GGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTCCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAAGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTTATTGGGCAGTGAACAATACTACTGGAGACCAGCAAGCCTCAAATCAGGAGAGAATGCCTGGGCCTACCCGAGAGTAGGAGCCCTGGGCAAGAAGCTGCCAGGTTATCTACACCCAAAATCCACAACTGTCTTCTGATGCACAGAGGTCAGGGCTGGCACCAGGAAGGATGCCACCAGAAGGCACTGGTTTGGGCAGGCTGAGCCTGTGCTTGGCTGGGCAAAGTAAACAGGGGAGATGGGCCTGGGCTGTTTTGGGAAAAGTTGGTAGGGCTGGAAGAATGGGAAATGTTTCTGAAGGGAAAGAAAATGCAGAGGTGAAGACATGGCGATAATGAGCTTCTGGATAAACGCGTGATGAGTTGGAGAGTGGGTGAAGGAGGTGGGAGAGGAAAAACATGAAGGGGATGGAAAGCAGAAAGGAAGAGGGAGAGCAAAGAGAGGGGTCAGGGTAATGGTCAGAGAAGAAGGAGATGGGCACGAGGTTGGGGGGAAAGAGGCTGAGTCTATGCCTCGGGGCCTGGGACACCTGATGGGGCTGGAGGCTGGGATCAGGGAGATTCTGAAAGGGAATACAGTAGCAGCTACACTCACGTGATCAGGATGGACTGGTTTTCTCTGTCTGTGGGGAGAGGGTGGGGAGGAAAGGTCAGGAGCTGCACAGGATGCTCTCGTGGGGCTTCTCCCTTCCTTCTCCCTCTCCCTCCCGGCCTATCCCAGTTCCCTTCAGGAAGACCCTTCCAGGGCCTCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCGCTCCTCTTCTTGCCCCGGTAGGCAGCCACCACCTCAGGAGTGTACACCGGCAGCCACTTGTAAGGGTTGACGGTGACACAGAAGAGGCCCGAGTAGGTCTGGGGATAGAAAAGGAGCAGTGACTTGCCAGTTGCGAAGGGGGAGGGCTGGTGATTTTGGGAGTTAGAGAAAGATCCCAGGAGAGAAAGAAGAGAAAGGAAAACCTCTGCATGCACTCAATCTGAGTAATGCCAGTCCCCAGAGTGTTGGAATTGAACCAAGGATGTTGGGACGAGGTTAGAGTGTAACCCTGCCTAGACACAAACAGAAGACACTCTTGGCTCCTGGGGTGGACATGGATGGAGCAAGAACAGAGATCCCAACGTAGGGCCAGGTGCAGCACTCACGTAGATCATCCAGGAGCCGTAGCGATCCTTGAGGTTGTAGAGCACCGCGGGCTCATGCAGGAAGGTCAGCATGGCCATGTCCTCGATTTTGTCGAACTTGGGTGGGTTCTGCTGCATCACCTGGTCCTCCTTCACGGTCACTGTCTGCAAGAGCCCCCACCCAAGCCCTCCTGTCAGCCTGGGCTTTCCCTCCTTCCTCAAGAGGGTTAGGAGTTGGTGAGTGACAGGGCAATAGTGCTCAAGAGAGAAGGAACCAGGATCTCACAGGGAAGACAGAAGGGATATTGGGAAGGAGAGGGCTCTTTGGAGGGTCTGGATTCTTCCCCAAAGGGAAGGAGAATGGGACCATCCTCAGGTCTGCATGGGCATGGGGCATGGGTGTACCCCTCTCTGTCCACCCAGGTGTACAGGTGGCCAGGGTGGACTCTCACATCAGCCTGACACCCACCTTGCCATACTCGGTCTCGGCAGTGACTTTGCCACCCTCTCGAGACACGATCTTGGCCTTGACAAACTCCTGTTTGTCATCAGGCACGAAGACATCCTTCTTG
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GGTGGTGCATGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGATGTGGAGGTGGCAGTGAGCCAAGATCGTGCCACTGCGCTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGAGAAGAGAGATGACTGCTGAGCAGACATGGCCCTCCATGACTTGACAGCTGCCCCCAAGAATCCCTGCCTCCCACCTTCAGTGCCGTCTGGCTCCGCCTGCTCCTCCCGCTGCTTCAGCTTGAACTTCATGTTTCCAAAGTGCATGATGGCGCCTGTCAGCTTATACATGGAGTTTTTCTCCTCTGAAGTGAAGCCCAGCACATCAAAAGCGTTCTGTAGGGAGGCCCCATATTGGCGGACCCCAGAAAAAGAAGTATGATGGGTAAGTGAGATCCCTTGTAAGTTGGAGAGAAAACTTGTCTCCTTAATCCCTGTGGGTTCTGAGACTCCCATACCCAGTGGGGAGCTCCAAAACAAAGGATGTAAGATGCAGGGAACTCCAAAACAAAGGATGTAAGATGCAAGAGCAGAGCAGACGTCAGTTGGCCGCAGCCCCAGTGTCAGTGGCCACAGCTTTTCTGAGTTACCCACTTATGCTTCCTGGCCCTACACTTGCTTCCTGCCTGGCCTTCCATACCTGTCTGCATCTGTTCACCTAACAGCCCCTCCAGCCCCATGCCGTCTGCATGGCCTTCCCTCCTCGTCCTGCTCCCTCGGTGATGCTTGTTTCTTGGCTTGTGTGTCTCTCTGTCTCATGGCTTTCAGCTCTTCCTGGTTTGATAGAACACCAGATACTGGCCAGTCCTGTCTCACCTCATCCATTCCCCAGTACACCCTGATCACAGGGCACATTCTGGCTCTCAGGAGGTCCATACCACTTTAAACAACCAATGGCCAGCGTCTTAGCTCTGCTTTTGGACCCCTGTTTGCCCCTCACTGCCAATCCTCCCACCCCCTGGCTGGGTCCTCACACACTCACATCAGTGGCCATGAGCTCCTCAGCGTCATCAATGGAGGCCACGGTGGTCTCTCCTTGGGAGATGAATGCATAATCGTAGGGGTTGTTGGTGATCAGCAGCATGTCTAGGGGAAAAAACATGGTTAGGGTGGGACACAAGCCCCCGGCTCTCATGGAGGCTGCTCGCCACAGCACATGGCCTGAGGAAGAGCACAGGACAGGGCTTGGCTTGGCCCCACATCCCACTGAATTGAATCCAGCAGTGCCATGAAACCCAGGGCATGCCAGCTGAGTCCAGCCACAAGCAGAGGGGACCAGGTTGCCATGGAGATAGTTGGTCTCAGTCGGTGGCTCTGACTCACCCAGCAGCTCAGGCTTTTTGTTAGACAGGATTTGGTAGAAAATGTGATAATCTCTCTCTGCTTTCAGCTGGAAAATAACTCTGGATTTTTCCAGAAGATCTGTGAACAGGTGGGGAGAAGAAGGAGAGAAAGAAAAGTTAGGGTTTGGGCACAAGGAAAATTAATGATAAATGTAGCAAGCAAAAGGCAGAGGGAAGGGAAGAGCCAGAGAGACTAGTTGGACAGACACAAAGAGATCACACAGAGAGATGGAAACAGAGACCCAGAAGGAGAGAAATAGTCTCAGAGAGAAATCCCAGAGAAAGACACCTAGCCATGCAGAGACAGAAATGGAGAAAGATGCAGAGGAAGTCTCAGAGAGAGACAGATATGTAGACCTGAAGACAGAGACACCTACAGACAGAGACTTAAAGAGGAGAAAAACAGAGGGAGGGAGGGGAGAGAGAGAGAGGTCAAGACCAGATGGTCTAGAGCAAGGGTGAGCTTAGGCTGAGCCTAGCAGATTCATGGCACTCACAGGTCTCTATGTCTGCAGATGCCAACTTTCCTGTTGCCCCAAAATGAATTCGAATGAATTTCCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACGAGGCGGGAGGAGTTGTCGTTCCGGACGGTCTTGGCATTGCCAAAGGCCTCCAGAGCAGGGTTGGCCTGGATGATCTGGTCCTCCAGGGTGCCCTGCAGAGGCCAAGAAGGAGGCAGGTGAGAGCTCTTCTCCCTCCCTTTCTGCGGTACAGGACCTTGGAGGGCAGCAGGCCTACCTTGCCCGGGCTCTGGTCCTTCTTGCTGCGGTCCCCAATGGCTGCAATAACAGCAAAGTACTGGATGACCCTCTTGGTGTTGACTGTCTTCCCTGCTCCGGATTCTCCGCTGTGAAGACAGGGGCTTATTGGGCAGTGAACAATACTACTGGAGACCAGCAAGCCTCAAATCAGGAGAGAATGCCTGGGCCTACCCGAGAGTAGGAGCCCTGGGCAAGAAGCTGCCAGGTTATCTACACCCAAAATCCACAACTGTCTTCTGATGCACAGAGGTCAGGGCTGGCACCAGGAAGGATGCCACCAGAAGGCACTGGTTTGGGCAGGCTGAGCCTGTGCTTGGCTGGGCAAAGTAAACAGGGGAGATGGGCCTGGGCTGTTTTGGGAAAAGTTGGTAGGGCTGGAAGAATGGGAAATGTTTCTGAAGGGAAAGAAAATGCAGAGGTGAAGACATGGCGATAATGAGCTTCTGGATAAACGCGTGATGAGTTGGAGAGTGGGTGAAGGAGGTGGGAGAGGAAAAACATGAAGGGGATGGAAAGCAGAAAGGAAGAGGGAGAGCAAAGAGAGGGGTCAGGGTAATGGTCAGAGAAGAAGGAGATGGGCACGAGGTTGGGGGGAAAGAGGCTGAGTCTATGCCTCGGGGCCTGGGACACCTGATGGGGCTGGAGGCTGGGATCAGGGAGATTCTGAAAGGGAATACAGTAGCAGCTACACTCACGTGATCAGGATGGACTGGTTTTCTCTGTCTGTGGGGAGAGGGTGGGGAGGAAAGGTCAGGAGCTGCACAGGATGCTCTCGTGGGGCTTCTCCCTTCCTTCTCCCTCTCCCTCCCGGCCTATCCCAGTTCCCTTCAGGAAGACCCTTCCAGGGCCTCTCACCTGTCAGCATGTACTGATAGGCGTTGTCGGAGATGGAGAAGATGTGGGGCGGGGCCTCGCTCCTCTTCTTGCCCCGGTAGGCAGCCACCACCTCAGGAGTGTACACCGGCAGCCACTTGTAAGGGTTGACGGTGACACAGAAGAGGCCCGAGTAGGTCTGGGGATAGAAAAGGAGCAGTGACTTGCCAGTTGCGAAGGGGGAGGGCTGGTGATTTTGGGAGTTAGAGAAAGATCCCAGGAGAGAAAGAAGAGAAAGGAAAACCTCTGCATGCACTCAATCTGAGTAATGCCAGTCCCCAGAGTGTTGGAATTGAACCAAGGATGTTGGGACGAGGTTAGAGTGTAACCCTGCCTAGACACAAACAGAAGACACTCTTGGCTCCTGGGGTGGACATGGATGGAGCAAGAACAGAGATCCCAACGTAGGGCCAGGTGCAGCACTCACGTAGATCATCCAGGAGCCGTAGCGATCCTTGAGGTTGTAGAGCACCGCGGGCTCATGCAGGAAGGTCAGCATGGCCATGTCCTCGATTTTGTCGAACTTGGGTGGGTTCTGCTGCATCACCTGGTCCTCCTTCACGGTCACTGTCTGCAAGAGCCCCCACCCAAGCCCTCCTGTCAGCCTGGGCTTTCCCTCCTTCCTCAAGAGGGTTAGGAGTTGGTGAGTGACAGGGCAATAGTGCTCAAGAGAGAAGGAACCAGGATCTCACAGGGAAGACAGAAGGGATATTGGGAAGGAGAGGGCTCTTTGGAGGGTCTGGATTCTTCCCCAAAGGGAAGGAGAATGGGACCATCCTCAGGTCTGCATGGGCATGGGGCATGGGTGTACCCCTCTCTGTCCACCCAGGTGTACAGGTGGCCAGGGTGGACTCTCACATCAGCCTGACACCCACCTTGCCATACTCGGTCTCGGCAGTGACTTTGCCACCCTCTCGAGACACGATCTTGGCCTTGACAAACTCCTGTTTGTCATCAGGCACGAAGACATCCTTCTTG
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Task1_train_19579
|
This sequence change occurs on Chromosome 14, altering THTPA, ZFHX2 (thiamine triphosphatase| zinc finger homeobox 2). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Indifference to pain, congenital, autosomal dominant
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CTTCACGCCCACTCAGCAGCACCTCACATGCCAGGCAGTGGTAGGTGCAGATGGGCACCCGCAATGGGGGTGGCATGGAGCCCCCAGAGCCCCGCCCAAAGAAGCAGAAGGATCTCTGGTGGGCAGTAGCCGGGGCCTCCCCGTCAAATGCCATCTTGCACTGGCGGCACAGGTAGCGATGGGTTACATCCACGGTGGAGATGCCAGTGCTGCCTGTCAGCAGCTCATCAACCTCACCAGCTTCCCCCTCCCCTGGAGCAGGCAGTTCAGGAGGCTTTGGAGGTGCTGTGGCTGTGGGCTCAGGGGGCTGGGGTGGCGGCTGGAGGAGGGCATTGGGGAGCAGCCCAATGAGGGTCTGAGGTATCATGGGGTTCATGGGAAATAGCCCCTTCTTCATGCCATAGAGCTGTTGGAAGTAGGCCCCCTGTAGCTGGGGGCCAAAGACAGCTGGCGGTGCTGTTCCCCCAGCAGGGGGCAATGGAAAGGGCAGGAACTGGCCCCCCAACAGGGCTGGGACAGTGGTCTTCAATGCTTTGAGGTTCTTGAGGGCATCATTGGAGGAGCTGGTGGGGCCTGCAACTGGCTTTCGCTCACTGGAGACCTTGTCCCCCAAGGGCTCAGTAGGAGGGCCTGGGACAGGGTCAGTGGTGCCTGCTGTGGAGGTGTTGGTTTGGTCGGGCATGGGTCTCTGAGGTAAGGGGCGGCCTGGGCCAGCAGTCTGGACCACTGTGGTGGTAGGCAGGACCGAAGTGGCGAGGCCGAGGAGGCCTGAGGAGGCTGCCGGGCCTAGAAAGGTGAAAGGAAGGATGAAGGATTAGCCATCTCCTGTCCCATCATTCTTCCTGCCATAGGCCACCTCCAGCCACACACACCCGTTCCCAGCACCGGATTTCCATGCCCCTTCCCTCCCTTCTTTCCCCCAAGAGCCTGATGCAAAGGAAGGCCACAGGAGATTGGGCATGGGAAGAATCAGGAAGGAAAAGGAAGGGCATGTCATTAGAGGGGGATGTTCTCTGAAGTCCAGCTCCTCCCAGCCTCCCTACTCACCTGAATTGAAAGGAGCTAAGTTGCCCAGCGGGGGCTGAGCCAGAGCTGGGCCAGATAAGAGGACCGGCGCCAGGCGAGGCAAGGTTGGGGCAGCCCCGAGGGGCATGGAGGCAGGTGTGGTGGCAGGTGGGGCCTTGAGAGCTGGGGGAGCCTCAGGTGCTGGGGCCAAGTCGTAGCACTTGCTTTCACTCTTCAGCTGGGCTCGAACCGCCTCCTTGAGCTTGGCCAGGTGCTGACGGGAAAAGAGATGGCCTCGGCAGGAGACATAGAAATCATACTTGACATCACAATAGGGGCAGTCAGTGCGCTGGGCTGCTAAGAGGCCCTCACTGCTGCCCCCAGTGCTCCCAGCGGCTGTCCCCTGTAGTTTGGCCTTCTTTTCCTTGGCACGAGCATTCTGGAACCAGACCTGGATGACTCTCTTGGGCAGCCCAATCTCCTCTCCCAGCACCTCACACTCCTGCATGGTGGGGGTGCGGTAAGCTTCATAGCAGGCTTTCATGATCTTCAGCTGCAGGCTGCTCATCTGGGTCCTGTAGCGCCGCTGCCCCATTCCATCTGGAACCCCAGTCCCACCTCCAGGTCCCCCACTGGTCCCTCCAGCCCCAGGGGATTCTGGTTCAGCTAGGCTGGAAGCAGATGAATCACTCAGATCTCCTGCAGAGAGACTGCAAGCCTCACTCTCTGGAGAAGCTTTAGGTGGTTCCTCTGGGCCCTCTTCCTCACTGGGTGGAGGGGGAGGTAGGAGAGGTAGAGGTGGCTCTGGTGTTGGGGTGGTGGCCTCTTTCCCAGGTGGTAGGAAAGGCTGGGGCCCAGAAGCAAGCGTGGCAGTGGGGTAGGGAAAAGCAGGTGCTTCCCTCTTTGGGGCTTCCCTCCCAGTGCCATCATCTACCTTGCCTAATAAGAGGTTGAACTTGGGCAAGGATGCAGGGGTGGCTGTGGCAGGCGGTTTCACTGCTGGACTAGGCACCCCCCCAGGGGTGCTTCGAAACTGGCCTTTCCTCTCCCGGGCCCTGGTATTCTGGAACCAGACCTGTACCACTCGCTTTTTGAGCCCCACCTCCTCGGAGATGCAGTCGAGCATCTTGCGTGTTGGGTTGGAATCCTGCATGTACCAACGGTACAGGATCTCTAGCTGCTCAGGCAAGATGGTGGTGCGCAGGCGCTTGTCCCTGGGGGGCTCGCCCTCCCCTCCTCCCCCTGCTTCACTGCCTGTGGGAGACAAGCTGCCGTCCTCATGCTTCCGTTTGAGAGGTGGACCTGGCATTGGTGAGGTGGCTGCCACCAGGGGGTTTCTCTCCCCAAACACCAGCAAGGGCAGATCTAGGAGTTGGGGGGGAGCACTGGGCTGCAGAGATGGCAGGAAATGTAGTCGGCGGTGACTGGTCAGGAGGTCCTGGCTGGAGAAAGAAATGGCACACTGGTCACAGGTATGGGCTGGGGAAGGTGATGGAGTAGCCTTCTCTTCAGGCTCTTTGCCTCCTGCCTTTGTTGCCTCTGCTTGGCTCAGCTCCTCCCCATCTGGAGGCTCTGGTAATGGGCCCTCAGGCCCTGCTGGAGGTTCAAGGCCCTGTTCCTCCTCTACTTCTTCTTCTTCCACCTCTTCCTCCTCTTCCCCTCTCTCTGCCTCTTCCTCCTCCTCTTCAAGGGTCTGGTCATCATAGCACTTCTTGAGGTGGCGCACCAACTCAAAAACACAGGAGAAAGTGGCGTGGCAACGCCTGCAGCCGGAGGCTCCCCCAGTGCCTCCTCCGGTTGGCATGGACCCACCCTCACAGGCATTTTTGCGTGCTTTCTGGCGGGCATTCTGGAACCACACCACCACCACACGGCTAGCCAGACCCAACAGACTTGCGAGTCGCTCCACCTCTCCGTCTTTGGGGTAGGCGCTAGTCTCAAAGAAAGACTGCAGGGCTTGGGTCTGGAACTCTGTGAACTTGGTTCTGGAGAACCGGCGGCCGGCAGGCACCAGGGGAGGAAGATTCCCTCTGGAGCTTTCTTCCTCTTCTATGGGCCAGTGTCCCCCTGCTCGACTTCGCTCTTCAGGGGCACGGGTCCCCCCTGCCTCAGGCTCTGGGACCAGGAAGGGTGGGCCCAGATGGGGAACAGGTGAATCCAGAGACCCATCAGGAGGTTTGGGAGGCTCTGCAAGGGGCGGGTATAGGCTGTCATAGCTCTTTCGAAACTGAGCAGCATAACGGCTCAGGGCTTCAAAGGGCAGAAAGCGGCGGTGGACATGTTCCTCGTGTGTCTTGAGGATAAGCATATTGGAGAAGAGTTTCCCACAGGCCCCACAGGCCAGCTTGTCCCCACCCCCGAGGGCCTCAGGTGGGGGTGGGGTAGGGGGAGGGGGCACAGCTTGCTTCCCTTCATTGTACTGGATCACCAGCTCAAAGCCAAAGTTTTCTAGAAGGGCTTTGGCTGCAGTGCGGGCAGCCTCGTTGGGCAATGGGTCGGGGGGTGAGGAAGGCCCTGCCTCATTACCCTCTTTGGCCATGGGGGGCCGCTCCCACTCCCGCTCAGCCAGCTCAGCCTTGGGAGGTTGGGGTGGAGGAGGAGGGGTGGCAGCTGGCAGGGACAGCACAGGTGCAGGCCCAGCTAGTGTCAGCTTGGGCCCCACCTTGAGATCGTGGAGGTAGAAGGGCAGGAGCAGCTGCTGCTGCTGGAGCTTAAGCAGTGATTCGGGCACCAGAGGGAAGGGGGGCAGGACTGGTGGGGTGAAGAGAGGGGCTGGGAATCGGTGCAGGTCCAAGGGAGGTGGGGGAGGGGACAGGAAAGGCAATCCAGATATGAAGCCACTGGTGTCAGGGCCCTTCTTCTCAGTGCCCACCTCCCCCTCTGTCTCGCCTTCCTTGGGCTCTTCTTGGCTGCGTTCTGGCCCTTCAATCTTGGAATCAGTCTTGGTTCCCCGAGAGCGAGTCTGATGCAGAACTGACCGCATGTGGATCTCCAGGGTGGAGCTCTGGTTGTAGGAGACTCTGCAGACTGTGCACTTAAAGGGCTTGTCTGTGGCAGCAGTGGTGGTGGGTGGGGCACCGGCCTCTCCCCG
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CTTCACGCCCACTCAGCAGCACCTCACATGCCAGGCAGTGGTAGGTGCAGATGGGCACCCGCAATGGGGGTGGCATGGAGCCCCCAGAGCCCCGCCCAAAGAAGCAGAAGGATCTCTGGTGGGCAGTAGCCGGGGCCTCCCCGTCAAATGCCATCTTGCACTGGCGGCACAGGTAGCGATGGGTTACATCCACGGTGGAGATGCCAGTGCTGCCTGTCAGCAGCTCATCAACCTCACCAGCTTCCCCCTCCCCTGGAGCAGGCAGTTCAGGAGGCTTTGGAGGTGCTGTGGCTGTGGGCTCAGGGGGCTGGGGTGGCGGCTGGAGGAGGGCATTGGGGAGCAGCCCAATGAGGGTCTGAGGTATCATGGGGTTCATGGGAAATAGCCCCTTCTTCATGCCATAGAGCTGTTGGAAGTAGGCCCCCTGTAGCTGGGGGCCAAAGACAGCTGGCGGTGCTGTTCCCCCAGCAGGGGGCAATGGAAAGGGCAGGAACTGGCCCCCCAACAGGGCTGGGACAGTGGTCTTCAATGCTTTGAGGTTCTTGAGGGCATCATTGGAGGAGCTGGTGGGGCCTGCAACTGGCTTTCGCTCACTGGAGACCTTGTCCCCCAAGGGCTCAGTAGGAGGGCCTGGGACAGGGTCAGTGGTGCCTGCTGTGGAGGTGTTGGTTTGGTCGGGCATGGGTCTCTGAGGTAAGGGGCGGCCTGGGCCAGCAGTCTGGACCACTGTGGTGGTAGGCAGGACCGAAGTGGCGAGGCCGAGGAGGCCTGAGGAGGCTGCCGGGCCTAGAAAGGTGAAAGGAAGGATGAAGGATTAGCCATCTCCTGTCCCATCATTCTTCCTGCCATAGGCCACCTCCAGCCACACACACCCGTTCCCAGCACCGGATTTCCATGCCCCTTCCCTCCCTTCTTTCCCCCAAGAGCCTGATGCAAAGGAAGGCCACAGGAGATTGGGCATGGGAAGAATCAGGAAGGAAAAGGAAGGGCATGTCATTAGAGGGGGATGTTCTCTGAAGTCCAGCTCCTCCCAGCCTCCCTACTCACCTGAATTGAAAGGAGCTAAGTTGCCCAGCGGGGGCTGAGCCAGAGCTGGGCCAGATAAGAGGACCGGCGCCAGGCGAGGCAAGGTTGGGGCAGCCCCGAGGGGCATGGAGGCAGGTGTGGTGGCAGGTGGGGCCTTGAGAGCTGGGGGAGCCTCAGGTGCTGGGGCCAAGTCGTAGCACTTGCTTTCACTCTTCAGCTGGGCTCGAACCGCCTCCTTGAGCTTGGCCAGGTGCTGACGGGAAAAGAGATGGCCTCGGCAGGAGACATAGAAATCATACTTGACATCACAATAGGGGCAGTCAGTGCGCTGGGCTGCTAAGAGGCCCTCACTGCTGCCCCCAGTGCTCCCAGCGGCTGTCCCCTGTAGTTTGGCCTTCTTTTCCTTGGCACGAGCATTCTGGAACCAGACCTGGATGACTCTCTTGGGCAGCCCAATCTCCTCTCCCAGCACCTCACACTCCTGCATGGTGGGGGTGCGGTAAGCTTCATAGCAGGCTTTCATGATCTTCAGCTGCAGGCTGCTCATCTGGGTCCTGTAGCGCCGCTGCCCCATTCCATCTGGAACCCCAGTCCCACCTCCAGGTCCCCCACTGGTCCCTCCAGCCCCAGGGGATTCTGGTTCAGCTAGGCTGGAAGCAGATGAATCACTCAGATCTCCTGCAGAGAGACTGCAAGCCTCACTCTCTGGAGAAGCTTTAGGTGGTTCCTCTGGGCCCTCTTCCTCACTGGGTGGAGGGGGAGGTAGGAGAGGTAGAGGTGGCTCTGGTGTTGGGGTGGTGGCCTCTTTCCCAGGTGGTAGGAAAGGCTGGGGCCCAGAAGCAAGCGTGGCAGTGGGGTAGGGAAAAGCAGGTGCTTCCCTCTTTGGGGCTTCCCTCCCAGTGCCATCATCTACCTTGCCTAATAAGAGGTTGAACTTGGGCAAGGATGCAGGGGTGGCTGTGGCAGGCGGTTTCACTGCTGGACTAGGCACCCCCCCAGGGGTGCTTCGAAACTGGCCTTTCTTCTCCCGGGCCCTGGTATTCTGGAACCAGACCTGTACCACTCGCTTTTTGAGCCCCACCTCCTCGGAGATGCAGTCGAGCATCTTGCGTGTTGGGTTGGAATCCTGCATGTACCAACGGTACAGGATCTCTAGCTGCTCAGGCAAGATGGTGGTGCGCAGGCGCTTGTCCCTGGGGGGCTCGCCCTCCCCTCCTCCCCCTGCTTCACTGCCTGTGGGAGACAAGCTGCCGTCCTCATGCTTCCGTTTGAGAGGTGGACCTGGCATTGGTGAGGTGGCTGCCACCAGGGGGTTTCTCTCCCCAAACACCAGCAAGGGCAGATCTAGGAGTTGGGGGGGAGCACTGGGCTGCAGAGATGGCAGGAAATGTAGTCGGCGGTGACTGGTCAGGAGGTCCTGGCTGGAGAAAGAAATGGCACACTGGTCACAGGTATGGGCTGGGGAAGGTGATGGAGTAGCCTTCTCTTCAGGCTCTTTGCCTCCTGCCTTTGTTGCCTCTGCTTGGCTCAGCTCCTCCCCATCTGGAGGCTCTGGTAATGGGCCCTCAGGCCCTGCTGGAGGTTCAAGGCCCTGTTCCTCCTCTACTTCTTCTTCTTCCACCTCTTCCTCCTCTTCCCCTCTCTCTGCCTCTTCCTCCTCCTCTTCAAGGGTCTGGTCATCATAGCACTTCTTGAGGTGGCGCACCAACTCAAAAACACAGGAGAAAGTGGCGTGGCAACGCCTGCAGCCGGAGGCTCCCCCAGTGCCTCCTCCGGTTGGCATGGACCCACCCTCACAGGCATTTTTGCGTGCTTTCTGGCGGGCATTCTGGAACCACACCACCACCACACGGCTAGCCAGACCCAACAGACTTGCGAGTCGCTCCACCTCTCCGTCTTTGGGGTAGGCGCTAGTCTCAAAGAAAGACTGCAGGGCTTGGGTCTGGAACTCTGTGAACTTGGTTCTGGAGAACCGGCGGCCGGCAGGCACCAGGGGAGGAAGATTCCCTCTGGAGCTTTCTTCCTCTTCTATGGGCCAGTGTCCCCCTGCTCGACTTCGCTCTTCAGGGGCACGGGTCCCCCCTGCCTCAGGCTCTGGGACCAGGAAGGGTGGGCCCAGATGGGGAACAGGTGAATCCAGAGACCCATCAGGAGGTTTGGGAGGCTCTGCAAGGGGCGGGTATAGGCTGTCATAGCTCTTTCGAAACTGAGCAGCATAACGGCTCAGGGCTTCAAAGGGCAGAAAGCGGCGGTGGACATGTTCCTCGTGTGTCTTGAGGATAAGCATATTGGAGAAGAGTTTCCCACAGGCCCCACAGGCCAGCTTGTCCCCACCCCCGAGGGCCTCAGGTGGGGGTGGGGTAGGGGGAGGGGGCACAGCTTGCTTCCCTTCATTGTACTGGATCACCAGCTCAAAGCCAAAGTTTTCTAGAAGGGCTTTGGCTGCAGTGCGGGCAGCCTCGTTGGGCAATGGGTCGGGGGGTGAGGAAGGCCCTGCCTCATTACCCTCTTTGGCCATGGGGGGCCGCTCCCACTCCCGCTCAGCCAGCTCAGCCTTGGGAGGTTGGGGTGGAGGAGGAGGGGTGGCAGCTGGCAGGGACAGCACAGGTGCAGGCCCAGCTAGTGTCAGCTTGGGCCCCACCTTGAGATCGTGGAGGTAGAAGGGCAGGAGCAGCTGCTGCTGCTGGAGCTTAAGCAGTGATTCGGGCACCAGAGGGAAGGGGGGCAGGACTGGTGGGGTGAAGAGAGGGGCTGGGAATCGGTGCAGGTCCAAGGGAGGTGGGGGAGGGGACAGGAAAGGCAATCCAGATATGAAGCCACTGGTGTCAGGGCCCTTCTTCTCAGTGCCCACCTCCCCCTCTGTCTCGCCTTCCTTGGGCTCTTCTTGGCTGCGTTCTGGCCCTTCAATCTTGGAATCAGTCTTGGTTCCCCGAGAGCGAGTCTGATGCAGAACTGACCGCATGTGGATCTCCAGGGTGGAGCTCTGGTTGTAGGAGACTCTGCAGACTGTGCACTTAAAGGGCTTGTCTGTGGCAGCAGTGGTGGTGGGTGGGGCACCGGCCTCTCCCCG
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Task1_train_19580
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A genetic alteration is present in NRL (neural retina leucine zipper) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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AAGCTAAAGGTTCTGTGAGCCCCTCAGAGAGAGAATCCAGAGCCAGAGAGGATGGCCAGTGGCCAATGGTGGGGAAGGGAGAGGAGACGAGAGAAATTCTGAGAGCGATGGAGGAGAGGACTCCCATTGCAGGCTCCTAAGCGGAGGAGGGATGAGCTGGGATAGAGGAGGGGAAAGAGGGAGCAAGAACTGTGATGGGAAGAGAAGAGACAGCTGGGGAGGGGGTGGAGAGAGGGGGTAGAAAGGAAGAGGGACATATGGGAGCCTCTTCCCCCATGCCCGAAAGCTTCTCCCATTTATTATGTCCGGTAGAGGACAGATGACAGTAACTCGTGAGGCGGCTGCTCCCAGCACAACGCCTGTGCTCTGCCCAGAGGCCCCATCTGCCCTCCCCTTAGCCTGCTGAACTGGAGGACTGGGTTACCATGGAAACTGTGAGACCTGGATAGCCACTGACAGGCCGAGCTGGGCCACTGAGGCTTCTGAGTTTGGTGGTGGTGGTGGTGAGAGGGGGAGGATCCATCTGTTCCAATGCCTGCCCCTCCACCCCATTTCCATTGGCTCTCCATAACAGATGTGCCACCCAGCTCCAGGTGGGGACTTCCCTTTTTCTTGCTCTCTCTCTCTCTCCCTCTCTCTCCCTCTCCCACACACAGACACACAAACAGTAGCCTGAAGCAGGGATAAAGAATGAACACTTCTTAAATTGCAAGAACATTTAGCTTATTGCATTAGAATTCTGCCTGGACTTCAAGTTTAATTCACAAAAGCTGCACTCTCTCAGCAAATTGTCATCCCAGGAGAAGTCTCACCTCAGCCCTCAGAGAGGTGGGAGGTGGCAGGAGCACCCTGTGCAGGTCTGGAGGCCCAGACAGCCTGGAGGGAGCTGCCGAGGACCCACGTATGTGCTCACAGAGAAGCCAGGCTTCCTCGCCTGGGCTGTGCATCCCCTGCCTAGGCTGCAGCTGGGAAACTGCAGCAGGATAGGAGGTGCCTTTGGCGAGATTGTCTTGGGGACTTCTTGGGGAGACCACCGGGACTTCCATACTGGGGAGATGCCAGAACTGGAAAGGGAGCAGAAGTCGTCCAATCCACATGAGAATTAGATGAAGTAACACAAGTCCAGGAAGCAACTGATTTGCTCAGGGTGACAGGGGGATCCCATGGAAGAGCTGGGACTAGGACCCAGGTTTCCAGACTTCTGCACACAGCTCTCTCCCAACCCACACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCAGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGGGTGAAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACT
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AAGCTAAAGGTTCTGTGAGCCCCTCAGAGAGAGAATCCAGAGCCAGAGAGGATGGCCAGTGGCCAATGGTGGGGAAGGGAGAGGAGACGAGAGAAATTCTGAGAGCGATGGAGGAGAGGACTCCCATTGCAGGCTCCTAAGCGGAGGAGGGATGAGCTGGGATAGAGGAGGGGAAAGAGGGAGCAAGAACTGTGATGGGAAGAGAAGAGACAGCTGGGGAGGGGGTGGAGAGAGGGGGTAGAAAGGAAGAGGGACATATGGGAGCCTCTTCCCCCATGCCCGAAAGCTTCTCCCATTTATTATGTCCGGTAGAGGACAGATGACAGTAACTCGTGAGGCGGCTGCTCCCAGCACAACGCCTGTGCTCTGCCCAGAGGCCCCATCTGCCCTCCCCTTAGCCTGCTGAACTGGAGGACTGGGTTACCATGGAAACTGTGAGACCTGGATAGCCACTGACAGGCCGAGCTGGGCCACTGAGGCTTCTGAGTTTGGTGGTGGTGGTGGTGAGAGGGGGAGGATCCATCTGTTCCAATGCCTGCCCCTCCACCCCATTTCCATTGGCTCTCCATAACAGATGTGCCACCCAGCTCCAGGTGGGGACTTCCCTTTTTCTTGCTCTCTCTCTCTCTCCCTCTCTCTCCCTCTCCCACACACAGACACACAAACAGTAGCCTGAAGCAGGGATAAAGAATGAACACTTCTTAAATTGCAAGAACATTTAGCTTATTGCATTAGAATTCTGCCTGGACTTCAAGTTTAATTCACAAAAGCTGCACTCTCTCAGCAAATTGTCATCCCAGGAGAAGTCTCACCTCAGCCCTCAGAGAGGTGGGAGGTGGCAGGAGCACCCTGTGCAGGTCTGGAGGCCCAGACAGCCTGGAGGGAGCTGCCGAGGACCCACGTATGTGCTCACAGAGAAGCCAGGCTTCCTCGCCTGGGCTGTGCATCCCCTGCCTAGGCTGCAGCTGGGAAACTGCAGCAGGATAGGAGGTGCCTTTGGCGAGATTGTCTTGGGGACTTCTTGGGGAGACCACCGGGACTTCCATACTGGGGAGATGCCAGAACTGGAAAGGGAGCAGAAGTCGTCCAATCCACATGAGAATTAGATGAAGTAACACAAGTCCAGGAAGCAACTGATTTGCTCAGGGTGACAGGGGGATCCCATGGAAGAGCTGGGACTAGGACCCAGGTTTCCAGACTTCTGCACACAGCTCTCTCCCAACCCACACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCGGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGGGTGAAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACT
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Task1_train_19581
|
This is a variant in NRL (neural retina leucine zipper), located on Chromosome 14. Is this mutation a likely cause of disease or not?
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Pathogenic; Retinal dystrophy
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CACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCAGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGGGTGAAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACTGGCCACCATCTTTCCTCAAGGCCAGTCTCTCCAAGGGGAACAGACCAAGATTGATTTTCCTTCTATTCAGAACTTGTTACGTTGTGTGAACTTGGCAGATCACCTTCACCCTTCTGACCCGTTTTCCCTTCTGTTCAATGAGGGCAGTTAGACTTTGTAACATATACCAAAGAGTGTTCTCTAGAACACTGATTCTGAACAATACCTATGAAGAGGTCTGTGCTCAGATAACTTTGAGAAATGTTGCCTCCTATCCCTACCTCTTACAGATGCACATAGCACAAGAGCATATTAACCTGAGCAATCCTTTAGTAAACCGTCTGTTCAAGTTCAACAAAAAGTGTCCTAAACTTATGTCACCAAGGAACTCTCCTGTCTGTTATCAATCATGGGGCACATGTTCACCTGAGGAACTTCTGGCTGGGTGACCTCAGATACCCTTCCCAGCCTTGAAGTCCAAGCTCTAGTCCAGCTCCCAATTCCAGTAACTCCCACCCCACCCCCAGAAGGTGCGCGGCATGGAGTGTTCATCCCCAGGGCTTAGACTTCGGCTCCTTCTAGATGCCCCAAGCCTAGGTAGCCTTCTTTCCAACCACATGTCAGACCCCCAGGCTCTACCCAGAGAGGCAAAGAGGAAGACCCAGGCCTCTCTCTTCCTGTTCCAGGGCAGGGTTGCTGCCCTCTCTATGGAACCTGTCACCCTTGAGAGGACAGAGGGGATGGAAACAGACACAGATTAAAGGAACTGGGTCTTGGCAGAAAGGAGATGGTGAGACACTGAGAGAGGTATCCAGAAAGAACTGGATGTACAGAAGGAGTAGTGGGGAAGGTTGTTTATCTTTCTGACGTGATAGCAGTGAGGGACACAGGCCAGTCAGGGTGGGAGTGGAGTAGGGTACCAAGGTGTTAGGATTCTTGAAAACAGACAACAGAGAGCAGGTGTTAAAGAGGGGGTTCTAGGTGAGCGGCCTGACACCCAGGTAGGCCCTGGATATACTCACTTCAGAAATGGCCGAGAGGATGTGGTCAGTGCCAGAGCCAGACAGGCACAGCTTCCCAGGAGACTGAAGGCTCCATGGAGCAGGGCCTGGTGCCTCTGCTCAGCTCCAGGGGGCTGTGGGCACAGAGCCCAAAGGGCATTCTTAAAGGGCCAGCTCTCTGAGGTCATCTGTGGTCCTGAGGCCTCCAACCAATAAGGTAAGGAGATCATTTGCATATCTTATTGG
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CACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCAGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGAGTGAAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACTGGCCACCATCTTTCCTCAAGGCCAGTCTCTCCAAGGGGAACAGACCAAGATTGATTTTCCTTCTATTCAGAACTTGTTACGTTGTGTGAACTTGGCAGATCACCTTCACCCTTCTGACCCGTTTTCCCTTCTGTTCAATGAGGGCAGTTAGACTTTGTAACATATACCAAAGAGTGTTCTCTAGAACACTGATTCTGAACAATACCTATGAAGAGGTCTGTGCTCAGATAACTTTGAGAAATGTTGCCTCCTATCCCTACCTCTTACAGATGCACATAGCACAAGAGCATATTAACCTGAGCAATCCTTTAGTAAACCGTCTGTTCAAGTTCAACAAAAAGTGTCCTAAACTTATGTCACCAAGGAACTCTCCTGTCTGTTATCAATCATGGGGCACATGTTCACCTGAGGAACTTCTGGCTGGGTGACCTCAGATACCCTTCCCAGCCTTGAAGTCCAAGCTCTAGTCCAGCTCCCAATTCCAGTAACTCCCACCCCACCCCCAGAAGGTGCGCGGCATGGAGTGTTCATCCCCAGGGCTTAGACTTCGGCTCCTTCTAGATGCCCCAAGCCTAGGTAGCCTTCTTTCCAACCACATGTCAGACCCCCAGGCTCTACCCAGAGAGGCAAAGAGGAAGACCCAGGCCTCTCTCTTCCTGTTCCAGGGCAGGGTTGCTGCCCTCTCTATGGAACCTGTCACCCTTGAGAGGACAGAGGGGATGGAAACAGACACAGATTAAAGGAACTGGGTCTTGGCAGAAAGGAGATGGTGAGACACTGAGAGAGGTATCCAGAAAGAACTGGATGTACAGAAGGAGTAGTGGGGAAGGTTGTTTATCTTTCTGACGTGATAGCAGTGAGGGACACAGGCCAGTCAGGGTGGGAGTGGAGTAGGGTACCAAGGTGTTAGGATTCTTGAAAACAGACAACAGAGAGCAGGTGTTAAAGAGGGGGTTCTAGGTGAGCGGCCTGACACCCAGGTAGGCCCTGGATATACTCACTTCAGAAATGGCCGAGAGGATGTGGTCAGTGCCAGAGCCAGACAGGCACAGCTTCCCAGGAGACTGAAGGCTCCATGGAGCAGGGCCTGGTGCCTCTGCTCAGCTCCAGGGGGCTGTGGGCACAGAGCCCAAAGGGCATTCTTAAAGGGCCAGCTCTCTGAGGTCATCTGTGGTCCTGAGGCCTCCAACCAATAAGGTAAGGAGATCATTTGCATATCTTATTGG
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Task1_train_19582
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This alteration in NRL (neural retina leucine zipper) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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ACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCAGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGGGTGAAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACTGGCCACCATCTTTCCTCAAGGCCAGTCTCTCCAAGGGGAACAGACCAAGATTGATTTTCCTTCTATTCAGAACTTGTTACGTTGTGTGAACTTGGCAGATCACCTTCACCCTTCTGACCCGTTTTCCCTTCTGTTCAATGAGGGCAGTTAGACTTTGTAACATATACCAAAGAGTGTTCTCTAGAACACTGATTCTGAACAATACCTATGAAGAGGTCTGTGCTCAGATAACTTTGAGAAATGTTGCCTCCTATCCCTACCTCTTACAGATGCACATAGCACAAGAGCATATTAACCTGAGCAATCCTTTAGTAAACCGTCTGTTCAAGTTCAACAAAAAGTGTCCTAAACTTATGTCACCAAGGAACTCTCCTGTCTGTTATCAATCATGGGGCACATGTTCACCTGAGGAACTTCTGGCTGGGTGACCTCAGATACCCTTCCCAGCCTTGAAGTCCAAGCTCTAGTCCAGCTCCCAATTCCAGTAACTCCCACCCCACCCCCAGAAGGTGCGCGGCATGGAGTGTTCATCCCCAGGGCTTAGACTTCGGCTCCTTCTAGATGCCCCAAGCCTAGGTAGCCTTCTTTCCAACCACATGTCAGACCCCCAGGCTCTACCCAGAGAGGCAAAGAGGAAGACCCAGGCCTCTCTCTTCCTGTTCCAGGGCAGGGTTGCTGCCCTCTCTATGGAACCTGTCACCCTTGAGAGGACAGAGGGGATGGAAACAGACACAGATTAAAGGAACTGGGTCTTGGCAGAAAGGAGATGGTGAGACACTGAGAGAGGTATCCAGAAAGAACTGGATGTACAGAAGGAGTAGTGGGGAAGGTTGTTTATCTTTCTGACGTGATAGCAGTGAGGGACACAGGCCAGTCAGGGTGGGAGTGGAGTAGGGTACCAAGGTGTTAGGATTCTTGAAAACAGACAACAGAGAGCAGGTGTTAAAGAGGGGGTTCTAGGTGAGCGGCCTGACACCCAGGTAGGCCCTGGATATACTCACTTCAGAAATGGCCGAGAGGATGTGGTCAGTGCCAGAGCCAGACAGGCACAGCTTCCCAGGAGACTGAAGGCTCCATGGAGCAGGGCCTGGTGCCTCTGCTCAGCTCCAGGGGGCTGTGGGCACAGAGCCCAAAGGGCATTCTTAAAGGGCCAGCTCTCTGAGGTCATCTGTGGTCCTGAGGCCTCCAACCAATAAGGTAAGGAGATCATTTGCATATCTTATTGGC
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ACCAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCAGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGGTTGAAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACTGGCCACCATCTTTCCTCAAGGCCAGTCTCTCCAAGGGGAACAGACCAAGATTGATTTTCCTTCTATTCAGAACTTGTTACGTTGTGTGAACTTGGCAGATCACCTTCACCCTTCTGACCCGTTTTCCCTTCTGTTCAATGAGGGCAGTTAGACTTTGTAACATATACCAAAGAGTGTTCTCTAGAACACTGATTCTGAACAATACCTATGAAGAGGTCTGTGCTCAGATAACTTTGAGAAATGTTGCCTCCTATCCCTACCTCTTACAGATGCACATAGCACAAGAGCATATTAACCTGAGCAATCCTTTAGTAAACCGTCTGTTCAAGTTCAACAAAAAGTGTCCTAAACTTATGTCACCAAGGAACTCTCCTGTCTGTTATCAATCATGGGGCACATGTTCACCTGAGGAACTTCTGGCTGGGTGACCTCAGATACCCTTCCCAGCCTTGAAGTCCAAGCTCTAGTCCAGCTCCCAATTCCAGTAACTCCCACCCCACCCCCAGAAGGTGCGCGGCATGGAGTGTTCATCCCCAGGGCTTAGACTTCGGCTCCTTCTAGATGCCCCAAGCCTAGGTAGCCTTCTTTCCAACCACATGTCAGACCCCCAGGCTCTACCCAGAGAGGCAAAGAGGAAGACCCAGGCCTCTCTCTTCCTGTTCCAGGGCAGGGTTGCTGCCCTCTCTATGGAACCTGTCACCCTTGAGAGGACAGAGGGGATGGAAACAGACACAGATTAAAGGAACTGGGTCTTGGCAGAAAGGAGATGGTGAGACACTGAGAGAGGTATCCAGAAAGAACTGGATGTACAGAAGGAGTAGTGGGGAAGGTTGTTTATCTTTCTGACGTGATAGCAGTGAGGGACACAGGCCAGTCAGGGTGGGAGTGGAGTAGGGTACCAAGGTGTTAGGATTCTTGAAAACAGACAACAGAGAGCAGGTGTTAAAGAGGGGGTTCTAGGTGAGCGGCCTGACACCCAGGTAGGCCCTGGATATACTCACTTCAGAAATGGCCGAGAGGATGTGGTCAGTGCCAGAGCCAGACAGGCACAGCTTCCCAGGAGACTGAAGGCTCCATGGAGCAGGGCCTGGTGCCTCTGCTCAGCTCCAGGGGGCTGTGGGCACAGAGCCCAAAGGGCATTCTTAAAGGGCCAGCTCTCTGAGGTCATCTGTGGTCCTGAGGCCTCCAACCAATAAGGTAAGGAGATCATTTGCATATCTTATTGGC
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Task1_train_19583
|
This sequence variant lies in NRL (neural retina leucine zipper) on Chromosome 14. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Retinal dystrophy
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CAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCAGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGGGTGAAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACTGGCCACCATCTTTCCTCAAGGCCAGTCTCTCCAAGGGGAACAGACCAAGATTGATTTTCCTTCTATTCAGAACTTGTTACGTTGTGTGAACTTGGCAGATCACCTTCACCCTTCTGACCCGTTTTCCCTTCTGTTCAATGAGGGCAGTTAGACTTTGTAACATATACCAAAGAGTGTTCTCTAGAACACTGATTCTGAACAATACCTATGAAGAGGTCTGTGCTCAGATAACTTTGAGAAATGTTGCCTCCTATCCCTACCTCTTACAGATGCACATAGCACAAGAGCATATTAACCTGAGCAATCCTTTAGTAAACCGTCTGTTCAAGTTCAACAAAAAGTGTCCTAAACTTATGTCACCAAGGAACTCTCCTGTCTGTTATCAATCATGGGGCACATGTTCACCTGAGGAACTTCTGGCTGGGTGACCTCAGATACCCTTCCCAGCCTTGAAGTCCAAGCTCTAGTCCAGCTCCCAATTCCAGTAACTCCCACCCCACCCCCAGAAGGTGCGCGGCATGGAGTGTTCATCCCCAGGGCTTAGACTTCGGCTCCTTCTAGATGCCCCAAGCCTAGGTAGCCTTCTTTCCAACCACATGTCAGACCCCCAGGCTCTACCCAGAGAGGCAAAGAGGAAGACCCAGGCCTCTCTCTTCCTGTTCCAGGGCAGGGTTGCTGCCCTCTCTATGGAACCTGTCACCCTTGAGAGGACAGAGGGGATGGAAACAGACACAGATTAAAGGAACTGGGTCTTGGCAGAAAGGAGATGGTGAGACACTGAGAGAGGTATCCAGAAAGAACTGGATGTACAGAAGGAGTAGTGGGGAAGGTTGTTTATCTTTCTGACGTGATAGCAGTGAGGGACACAGGCCAGTCAGGGTGGGAGTGGAGTAGGGTACCAAGGTGTTAGGATTCTTGAAAACAGACAACAGAGAGCAGGTGTTAAAGAGGGGGTTCTAGGTGAGCGGCCTGACACCCAGGTAGGCCCTGGATATACTCACTTCAGAAATGGCCGAGAGGATGTGGTCAGTGCCAGAGCCAGACAGGCACAGCTTCCCAGGAGACTGAAGGCTCCATGGAGCAGGGCCTGGTGCCTCTGCTCAGCTCCAGGGGGCTGTGGGCACAGAGCCCAAAGGGCATTCTTAAAGGGCCAGCTCTCTGAGGTCATCTGTGGTCCTGAGGCCTCCAACCAATAAGGTAAGGAGATCATTTGCATATCTTATTGGCCT
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CAACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCAGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGGGTAAAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACTGGCCACCATCTTTCCTCAAGGCCAGTCTCTCCAAGGGGAACAGACCAAGATTGATTTTCCTTCTATTCAGAACTTGTTACGTTGTGTGAACTTGGCAGATCACCTTCACCCTTCTGACCCGTTTTCCCTTCTGTTCAATGAGGGCAGTTAGACTTTGTAACATATACCAAAGAGTGTTCTCTAGAACACTGATTCTGAACAATACCTATGAAGAGGTCTGTGCTCAGATAACTTTGAGAAATGTTGCCTCCTATCCCTACCTCTTACAGATGCACATAGCACAAGAGCATATTAACCTGAGCAATCCTTTAGTAAACCGTCTGTTCAAGTTCAACAAAAAGTGTCCTAAACTTATGTCACCAAGGAACTCTCCTGTCTGTTATCAATCATGGGGCACATGTTCACCTGAGGAACTTCTGGCTGGGTGACCTCAGATACCCTTCCCAGCCTTGAAGTCCAAGCTCTAGTCCAGCTCCCAATTCCAGTAACTCCCACCCCACCCCCAGAAGGTGCGCGGCATGGAGTGTTCATCCCCAGGGCTTAGACTTCGGCTCCTTCTAGATGCCCCAAGCCTAGGTAGCCTTCTTTCCAACCACATGTCAGACCCCCAGGCTCTACCCAGAGAGGCAAAGAGGAAGACCCAGGCCTCTCTCTTCCTGTTCCAGGGCAGGGTTGCTGCCCTCTCTATGGAACCTGTCACCCTTGAGAGGACAGAGGGGATGGAAACAGACACAGATTAAAGGAACTGGGTCTTGGCAGAAAGGAGATGGTGAGACACTGAGAGAGGTATCCAGAAAGAACTGGATGTACAGAAGGAGTAGTGGGGAAGGTTGTTTATCTTTCTGACGTGATAGCAGTGAGGGACACAGGCCAGTCAGGGTGGGAGTGGAGTAGGGTACCAAGGTGTTAGGATTCTTGAAAACAGACAACAGAGAGCAGGTGTTAAAGAGGGGGTTCTAGGTGAGCGGCCTGACACCCAGGTAGGCCCTGGATATACTCACTTCAGAAATGGCCGAGAGGATGTGGTCAGTGCCAGAGCCAGACAGGCACAGCTTCCCAGGAGACTGAAGGCTCCATGGAGCAGGGCCTGGTGCCTCTGCTCAGCTCCAGGGGGCTGTGGGCACAGAGCCCAAAGGGCATTCTTAAAGGGCCAGCTCTCTGAGGTCATCTGTGGTCCTGAGGCCTCCAACCAATAAGGTAAGGAGATCATTTGCATATCTTATTGGCCT
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Task1_train_19584
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Given this variant in gene NRL (neural retina leucine zipper) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Retinal dystrophy
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AACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCAGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGGGTGAAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACTGGCCACCATCTTTCCTCAAGGCCAGTCTCTCCAAGGGGAACAGACCAAGATTGATTTTCCTTCTATTCAGAACTTGTTACGTTGTGTGAACTTGGCAGATCACCTTCACCCTTCTGACCCGTTTTCCCTTCTGTTCAATGAGGGCAGTTAGACTTTGTAACATATACCAAAGAGTGTTCTCTAGAACACTGATTCTGAACAATACCTATGAAGAGGTCTGTGCTCAGATAACTTTGAGAAATGTTGCCTCCTATCCCTACCTCTTACAGATGCACATAGCACAAGAGCATATTAACCTGAGCAATCCTTTAGTAAACCGTCTGTTCAAGTTCAACAAAAAGTGTCCTAAACTTATGTCACCAAGGAACTCTCCTGTCTGTTATCAATCATGGGGCACATGTTCACCTGAGGAACTTCTGGCTGGGTGACCTCAGATACCCTTCCCAGCCTTGAAGTCCAAGCTCTAGTCCAGCTCCCAATTCCAGTAACTCCCACCCCACCCCCAGAAGGTGCGCGGCATGGAGTGTTCATCCCCAGGGCTTAGACTTCGGCTCCTTCTAGATGCCCCAAGCCTAGGTAGCCTTCTTTCCAACCACATGTCAGACCCCCAGGCTCTACCCAGAGAGGCAAAGAGGAAGACCCAGGCCTCTCTCTTCCTGTTCCAGGGCAGGGTTGCTGCCCTCTCTATGGAACCTGTCACCCTTGAGAGGACAGAGGGGATGGAAACAGACACAGATTAAAGGAACTGGGTCTTGGCAGAAAGGAGATGGTGAGACACTGAGAGAGGTATCCAGAAAGAACTGGATGTACAGAAGGAGTAGTGGGGAAGGTTGTTTATCTTTCTGACGTGATAGCAGTGAGGGACACAGGCCAGTCAGGGTGGGAGTGGAGTAGGGTACCAAGGTGTTAGGATTCTTGAAAACAGACAACAGAGAGCAGGTGTTAAAGAGGGGGTTCTAGGTGAGCGGCCTGACACCCAGGTAGGCCCTGGATATACTCACTTCAGAAATGGCCGAGAGGATGTGGTCAGTGCCAGAGCCAGACAGGCACAGCTTCCCAGGAGACTGAAGGCTCCATGGAGCAGGGCCTGGTGCCTCTGCTCAGCTCCAGGGGGCTGTGGGCACAGAGCCCAAAGGGCATTCTTAAAGGGCCAGCTCTCTGAGGTCATCTGTGGTCCTGAGGCCTCCAACCAATAAGGTAAGGAGATCATTTGCATATCTTATTGGCCTG
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AACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCAGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGGGTGGAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACTGGCCACCATCTTTCCTCAAGGCCAGTCTCTCCAAGGGGAACAGACCAAGATTGATTTTCCTTCTATTCAGAACTTGTTACGTTGTGTGAACTTGGCAGATCACCTTCACCCTTCTGACCCGTTTTCCCTTCTGTTCAATGAGGGCAGTTAGACTTTGTAACATATACCAAAGAGTGTTCTCTAGAACACTGATTCTGAACAATACCTATGAAGAGGTCTGTGCTCAGATAACTTTGAGAAATGTTGCCTCCTATCCCTACCTCTTACAGATGCACATAGCACAAGAGCATATTAACCTGAGCAATCCTTTAGTAAACCGTCTGTTCAAGTTCAACAAAAAGTGTCCTAAACTTATGTCACCAAGGAACTCTCCTGTCTGTTATCAATCATGGGGCACATGTTCACCTGAGGAACTTCTGGCTGGGTGACCTCAGATACCCTTCCCAGCCTTGAAGTCCAAGCTCTAGTCCAGCTCCCAATTCCAGTAACTCCCACCCCACCCCCAGAAGGTGCGCGGCATGGAGTGTTCATCCCCAGGGCTTAGACTTCGGCTCCTTCTAGATGCCCCAAGCCTAGGTAGCCTTCTTTCCAACCACATGTCAGACCCCCAGGCTCTACCCAGAGAGGCAAAGAGGAAGACCCAGGCCTCTCTCTTCCTGTTCCAGGGCAGGGTTGCTGCCCTCTCTATGGAACCTGTCACCCTTGAGAGGACAGAGGGGATGGAAACAGACACAGATTAAAGGAACTGGGTCTTGGCAGAAAGGAGATGGTGAGACACTGAGAGAGGTATCCAGAAAGAACTGGATGTACAGAAGGAGTAGTGGGGAAGGTTGTTTATCTTTCTGACGTGATAGCAGTGAGGGACACAGGCCAGTCAGGGTGGGAGTGGAGTAGGGTACCAAGGTGTTAGGATTCTTGAAAACAGACAACAGAGAGCAGGTGTTAAAGAGGGGGTTCTAGGTGAGCGGCCTGACACCCAGGTAGGCCCTGGATATACTCACTTCAGAAATGGCCGAGAGGATGTGGTCAGTGCCAGAGCCAGACAGGCACAGCTTCCCAGGAGACTGAAGGCTCCATGGAGCAGGGCCTGGTGCCTCTGCTCAGCTCCAGGGGGCTGTGGGCACAGAGCCCAAAGGGCATTCTTAAAGGGCCAGCTCTCTGAGGTCATCTGTGGTCCTGAGGCCTCCAACCAATAAGGTAAGGAGATCATTTGCATATCTTATTGGCCTG
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Task1_train_19585
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A sequence alteration has been identified in NRL (neural retina leucine zipper) on Chromosome 14. Is it disease-inducing or harmless?
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Pathogenic; Retinitis pigmentosa 27
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AACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCAGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGGGTGAAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACTGGCCACCATCTTTCCTCAAGGCCAGTCTCTCCAAGGGGAACAGACCAAGATTGATTTTCCTTCTATTCAGAACTTGTTACGTTGTGTGAACTTGGCAGATCACCTTCACCCTTCTGACCCGTTTTCCCTTCTGTTCAATGAGGGCAGTTAGACTTTGTAACATATACCAAAGAGTGTTCTCTAGAACACTGATTCTGAACAATACCTATGAAGAGGTCTGTGCTCAGATAACTTTGAGAAATGTTGCCTCCTATCCCTACCTCTTACAGATGCACATAGCACAAGAGCATATTAACCTGAGCAATCCTTTAGTAAACCGTCTGTTCAAGTTCAACAAAAAGTGTCCTAAACTTATGTCACCAAGGAACTCTCCTGTCTGTTATCAATCATGGGGCACATGTTCACCTGAGGAACTTCTGGCTGGGTGACCTCAGATACCCTTCCCAGCCTTGAAGTCCAAGCTCTAGTCCAGCTCCCAATTCCAGTAACTCCCACCCCACCCCCAGAAGGTGCGCGGCATGGAGTGTTCATCCCCAGGGCTTAGACTTCGGCTCCTTCTAGATGCCCCAAGCCTAGGTAGCCTTCTTTCCAACCACATGTCAGACCCCCAGGCTCTACCCAGAGAGGCAAAGAGGAAGACCCAGGCCTCTCTCTTCCTGTTCCAGGGCAGGGTTGCTGCCCTCTCTATGGAACCTGTCACCCTTGAGAGGACAGAGGGGATGGAAACAGACACAGATTAAAGGAACTGGGTCTTGGCAGAAAGGAGATGGTGAGACACTGAGAGAGGTATCCAGAAAGAACTGGATGTACAGAAGGAGTAGTGGGGAAGGTTGTTTATCTTTCTGACGTGATAGCAGTGAGGGACACAGGCCAGTCAGGGTGGGAGTGGAGTAGGGTACCAAGGTGTTAGGATTCTTGAAAACAGACAACAGAGAGCAGGTGTTAAAGAGGGGGTTCTAGGTGAGCGGCCTGACACCCAGGTAGGCCCTGGATATACTCACTTCAGAAATGGCCGAGAGGATGTGGTCAGTGCCAGAGCCAGACAGGCACAGCTTCCCAGGAGACTGAAGGCTCCATGGAGCAGGGCCTGGTGCCTCTGCTCAGCTCCAGGGGGCTGTGGGCACAGAGCCCAAAGGGCATTCTTAAAGGGCCAGCTCTCTGAGGTCATCTGTGGTCCTGAGGCCTCCAACCAATAAGGTAAGGAGATCATTTGCATATCTTATTGGCCTG
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AACAACCCCCAGAGCTCACTCTTCAGGCCTTTGCTGCTCTGAGCCCTGAAGGCCACAGGGTTGGGCAGGGAAAAAGCATCTCGGATAGAGGTCCTAATCTATCTAGTTGTTGGATATTGAAATCTTGAAAATTCTGTAGTGCTAAAATGGGGAGGTTACAAGCTTCAGAATGAAAATACAGCCTCATTGCTAATTACAGCTTTAATGTGTTACAGGTTGAAAACCCTGAATTAAAAACTAAACTGAGGTGGGAGCTGCAACCCTCCTCCACCTCCCATTCACTGTGTCACCACACTTCCACCCCCCAGTGCCTGGCACTGGTCCCTGCAGAGCTCAGCGTGCTAGTCATGTGGGCTGGGTTTCTGTGTTCGTAAGGGGAGGGGACCCCTCTCCAGAAAATGACCAGCATCTAAATTCGGGCATGACTTGAGGACCCAAAAGCTTTGGGGATATTTGCGCGGTCATACAGGGCGTGGCTAGGACCAGAAGGCGCTCTGGTAACGATGCAGAGAACCGTGCAGCCGCCTCCTGGGCGGAGCCACCCCACCCAGCCCCCACTACACCACAAGGTGCTCTGAACGGCTCAGAGGAAGAGGTGGGAGGGGTCCCCGGACCCGGGGCCGCTCGAGGTTAGCCGGTCACAGCGAGCCTTGTAGAGATCGCGCTCCCGGGCCAGGCGGGCCACCTCGGCCCGCAGCGCGTCCAGCTGGGCGGCCAGGCGGGCGCGCTCGGCCTCCAGCCCGCGCCGCTGCTGCAGCCGCTTGGAGCGACAGGCCTGCGCGTAGCCGCGGTTCTTCAGCGTGCGGCGCCTCTGCTTCAGCCGCAGCGCCTCGTCGCGCCCGCAGCCCCGCAGCTGCCGGTTTAGCTCCCGCACAGACATCGAGACCAGCGCCGCGTCGGAAAACCGCTCTGCCAGCTGCGGAGGGAGAATGCAGAAACCGGGTCAGCGCCAGGTCGCACCCGGCTCTGCCCTGAGGGCCCGACGCTACCTGGCTCCGCCCCGGGACAGCCCCGCCCCGGCTCCCACCTTCACCGGAAGGCTCGCCCTTCCACGCAGTCTGTTTCGGTCCAGAGCCCGCCCCAGGCCCCGACGCTCCCCGGGCCCCCCAGCTGACCGTTGCTCCAGTCAGGCGGGCGCCCCACGGTGCAGGGCCGGCCACGGTCAGGCGAGCCCGTCGCGCACCTAAACCCCGGGCTCGTCTCTGGGATCCCCGGCATCCAGCTCCAGGCCCGGGTGTGTCCAGTGGACCCGCACCCAGACAGCCCCCAACCCTCCAACGCGCTGCGTTTCCCTGTCCTGAAGCCTGCAACCCGGTGACCCTCACAGGATTTGGATTACATCCTAATGCCCGCAACACCCCCATCTGTGTCTGTAATTAATAGGATGAGTCCCAATCCTTCCTGAGAAGGTTGGGGGCTGGGAAGCACGAAGTCTTGAAAAGGCCAATCTAAACCAGTCTTAACCCAGCTCCACTCCACACATAACCCTTTCCCTGGTTTCCACACACCATGTATCTGTTTACCCCCCGGAGTCGCCCACTCCCCAGCTCAATTCTTCCCTTTGGATTCTCTGCTAATCTTATCTTCTCCCTGCTCCTCCTGGTTCAGCCTACTCATTTCTCTCCATTTTAAGAAAAGGGGGAGAAGCAGAATGTAGTTTTCTCGATCTGATTGCTTTCAAGGGACCTTCTCCCCTTCTCCTGCCCTCTGTCCCCTGTCCCAGTCCATAACCCCCTCTGGGAGCTCCCCTTCCTCTCTTGGGCAGTCCTCCTTCCTTGCCCTGCCTCCCCTCAGGCCAGCTTGCTGACCACTCACCTGGACGTGCTGGGCTCCTGTCTCCTCTGGGCTCCCTGGGTAGTAGCCATGGGGCCCATCAACAGGGACTGGGCCCTGACCCTGCAGCAGCTCCATGGCCTCTTCAGGACTCAGCCCCAATGCCTCCCCAGCCCCCAGCTGCTGCTGCAGGGTAGCCAGCCAGTACAGCTCCTCCAGGCCTGGCCGGGTGCCCTCGGTTGCCCCCACCATGCCTGGTTCACTGAAGGTGGGTGTAGGAGGCACTGAGCTGTAAGGTGTGGAGCCCAGTGAGGCTGTAGGGGGGCCAGGTCGGCCCTCAGAGGGTTCCCGCTTTACCTCAAACTTCATCAAGTCAAAGTCATTGACATATTCCATGGCCAGGGGGCTGGGGGGCAGGGCCATTCTGGAGCTGGGCTGGGAGGAGTGCACCTGCAAAGAGGAGGAGAGGTCTGGAGCACATGGAGGCCACCTGCCATCCCCTCTTCACCAAGTCCCTCTTCCCTCAAAGCCCAAGTGCCCTGGAGCAAGAGTTTGGGAAAGCCAGAGGGATGGTGCAGCTCTGTTCACTGCAGAGTCCCCACCAGGCTGAAGAGTAACCTTTCAGAGGGCAGGGGCTCCTGACAGGGGACAAGCAGCTGAATTCCTGAAGGAGGAAGAGGACAGCACAGCCTCTCGCCCCACTGATGCCTCAGGATCTATGAAAAGCAAGAGCAGTATGGCAGTGCTCCCAACCCTAGTGCTGAGACATGCCGAGAGGTCTGTCATCTCAAGAGGCATCATTCCATTTCCAAGCCATTTTTTTAAATTGCTTAATTAACTGTGACAAAGTGAGTGTATATTTTAGGACAGTGGGAAGGCATGTATGCTGTGAATTTTAAGAGCCAAGGATAATGTGTTCTTATAGCTCTCTGTCTCTCAAAGCACTCAGGGAAGTGCCTTGCCTATAGAAGACCCTCAGTGTACATTTGTTCTATGGATTAATCAATCAATGAATCCCTTTTGTAGGGGCAAGAGGCTTTATATGGAAAAAAGAAAGGTCCTAGAATTAGTTCTAGAAAGATCAGAATCAACTGGCCACCATCTTTCCTCAAGGCCAGTCTCTCCAAGGGGAACAGACCAAGATTGATTTTCCTTCTATTCAGAACTTGTTACGTTGTGTGAACTTGGCAGATCACCTTCACCCTTCTGACCCGTTTTCCCTTCTGTTCAATGAGGGCAGTTAGACTTTGTAACATATACCAAAGAGTGTTCTCTAGAACACTGATTCTGAACAATACCTATGAAGAGGTCTGTGCTCAGATAACTTTGAGAAATGTTGCCTCCTATCCCTACCTCTTACAGATGCACATAGCACAAGAGCATATTAACCTGAGCAATCCTTTAGTAAACCGTCTGTTCAAGTTCAACAAAAAGTGTCCTAAACTTATGTCACCAAGGAACTCTCCTGTCTGTTATCAATCATGGGGCACATGTTCACCTGAGGAACTTCTGGCTGGGTGACCTCAGATACCCTTCCCAGCCTTGAAGTCCAAGCTCTAGTCCAGCTCCCAATTCCAGTAACTCCCACCCCACCCCCAGAAGGTGCGCGGCATGGAGTGTTCATCCCCAGGGCTTAGACTTCGGCTCCTTCTAGATGCCCCAAGCCTAGGTAGCCTTCTTTCCAACCACATGTCAGACCCCCAGGCTCTACCCAGAGAGGCAAAGAGGAAGACCCAGGCCTCTCTCTTCCTGTTCCAGGGCAGGGTTGCTGCCCTCTCTATGGAACCTGTCACCCTTGAGAGGACAGAGGGGATGGAAACAGACACAGATTAAAGGAACTGGGTCTTGGCAGAAAGGAGATGGTGAGACACTGAGAGAGGTATCCAGAAAGAACTGGATGTACAGAAGGAGTAGTGGGGAAGGTTGTTTATCTTTCTGACGTGATAGCAGTGAGGGACACAGGCCAGTCAGGGTGGGAGTGGAGTAGGGTACCAAGGTGTTAGGATTCTTGAAAACAGACAACAGAGAGCAGGTGTTAAAGAGGGGGTTCTAGGTGAGCGGCCTGACACCCAGGTAGGCCCTGGATATACTCACTTCAGAAATGGCCGAGAGGATGTGGTCAGTGCCAGAGCCAGACAGGCACAGCTTCCCAGGAGACTGAAGGCTCCATGGAGCAGGGCCTGGTGCCTCTGCTCAGCTCCAGGGGGCTGTGGGCACAGAGCCCAAAGGGCATTCTTAAAGGGCCAGCTCTCTGAGGTCATCTGTGGTCCTGAGGCCTCCAACCAATAAGGTAAGGAGATCATTTGCATATCTTATTGGCCTG
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Task1_train_19586
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This genomic variant is located on Chromosome 14, within the TINF2 (TERF1 interacting nuclear factor 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; TINF2-related disorder
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TAAGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCC
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TAAGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGAGCGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCC
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Task1_train_19587
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This variant affects gene TINF2 (TERF1 interacting nuclear factor 2) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
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Pathogenic; Dyskeratosis congenita, autosomal dominant 3
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AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAA
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AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGTGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAA
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Task1_train_19588
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This genomic variant is located on Chromosome 14, within the TINF2 (TERF1 interacting nuclear factor 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Dyskeratosis congenita, autosomal dominant 1
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AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAA
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AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGTGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAA
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Task1_train_19589
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Here is a mutation in TINF2 (TERF1 interacting nuclear factor 2) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Revesz syndrome
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AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAA
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AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGTGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAA
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Task1_train_19590
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This variant impacts the gene TINF2 (TERF1 interacting nuclear factor 2) on Chromosome 14. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Dyskeratosis congenita
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AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAA
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AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGTGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAA
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Task1_train_19591
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Located on Chromosome 14, this mutation impacts TINF2 (TERF1 interacting nuclear factor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Dyskeratosis congenita, autosomal dominant 3
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AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAA
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AGAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGTGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAA
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Task1_train_19592
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Located on Chromosome 14, this mutation impacts TINF2 (TERF1 interacting nuclear factor 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Dyskeratosis congenita
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GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAAT
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GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCACTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAAT
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Task1_train_19593
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This gene mutation involves TINF2 (TERF1 interacting nuclear factor 2) on Chromosome 14. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Dyskeratosis congenita, autosomal dominant 3
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GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAAT
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GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCACTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAAT
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Task1_train_19594
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This variant affects the gene TINF2 (TERF1 interacting nuclear factor 2) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Dyskeratosis congenita
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GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAAT
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GAGCCTCAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCTCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAAT
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Task1_train_19595
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Gene TINF2 (TERF1 interacting nuclear factor 2), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not provided
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CAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCGCTCCTTATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAATGGGCGG
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CAGAGGGAAAGACAGTGGAAGTTCCTTTTAAAGGAGATGTGGAACATACCATCCGAGACATCCTAGGAGGGATCCGCTCTACGTGTACCTATGTGGGAGCAGCTAAGCTCAAAGAGTTGAGCAGGAGAACTACCTTCATCCGAGTCACCCAGCAGGTGAATCCAATCTTCAGTGAGGCGTGCTAGACCTGAGCAGTTCTACCCTCCCAAGGCACCAGTACTCTACCATGGGGCATCCCAAGTGGGGTCCTCACCCATCCCAGCTACTGCAGCTCTGTATTACTTTGTCATTTCCTGTTGTCTCACTCCTGAGGGCTCCTGCAGTAACTCTGTACTTCTCTATCTGCACACACAAAATGCCCAAGGCACTCACTGGGGAGGAAGCAAGGAAGCAAACAGTCTGAGAAAATGATGCAAGAAAATCAAATGGGAATCTGGGGACCCAACACAACATCCTGAAGATTATTAAAAGGAAAAGATGCTGATTGGTACATAAATCTTTTACATGGCCTTGGTCTAGAGGAGGCAGGCTTTTAGAATCATGTTTTGTTAATCCGCTTCACTAAATTGGACCTTCACATATCTAAAAAGCTCTGAAGTGTTTGTATATTTGAAATACCTCAATAAAGAGAGAGCTCATTGACTGTAAAGAGATGCTGGGGCTTTCTGTACAAGGCTAGCATCTGGGTGCTGCTGCAGAGTGGGTGGTGGTAGGGTCAGCACTGACCCAGTGGGGTCAAGAACAATGAGTATTATTCCCATGAAGTATCTCCATTCTAGTGCCACCACACCCAGATAATCTGGCAGCATGAGAATTTACAAAGTATATTCTGGCCTGAGGACACATATTTCCAGAATACCAAAGGACATTTCTCTTCCAGGCTTTCAACCCTGCTAACCCTTTTAGGCACAGCTGAACAACACTTAGCAAGGGAAGTAAAAAAAGGCAAAGGGATCCTTTCAGTTTGGAAGGGCCAGTTCTGTTTCTAAGGAATGACTTATGCTGACCTTATGGAAACCTTAATTCCCCTCCTTCACATCAAGGCAGTATTTTAACAAATCCAAAGTTTAATTATTAAGGATTACAAATATTTTTAGCAGTGTAGTTAGGCAATCCAAGCCTGGACTTCCACTTCATTCCTACTAAACTACTTGCAGAGCTGAGGAGGCAGGAGACTAGAGTACAGAGAGCATTTTAGTTCTATCACAAAGGTCTAGAACTGTCTCTACAGTCACAGGAAGAAACAGGTATGGCACCGTGGCCAGAAGGGGGTAGGTATTCACAGAGAGTGGGTATCAAGGTGTCAAACTTTGTCTTCTGATAGTTTTCCAGAGATTCCTGTAGAGAAGGGAGCAGGGAGAGCCTACTATCCGAAACCATTCCCTGAACCCTCTGAATTCTGAAGCATGTGGATTTCTCAGTCTTGTTCTACCCATCCCCTTTCCCAGCTTTCTGCTCCTTCCCACTCACCTTTCCTTCCCCCTGGCCATTTTCTTCCTCATCAGAGTCTAAAACCAAGTCCCCTATGGTAATGACGGAGCTGCACAGAGACGGAGGACACACTGTAGGAGGGAAACCAGAATCAAACTACTACTTCTAGATGAACACAGGCTCTTGAGAGTCCCCAAGAGAGGAGGCTGTTGATCCAATCCTGACTCAGACTACCTACCTGGCTTCCTGGCCCTAGGAGGTAATAATGATAGTCTCAGGGGGTCCATGTAGCAATCCAAGCAATTCCTGAGGTGAGAGCAAGCAAAGAGGATAGGATGAAGGGAAGGCAGGCAAAGAATGTGCTCCTAGTAAGAAGCAACTCTGTTCCACTCACTCCTTTTGCTCTGTGGCAGGCAAGTCAACTGGGTTCTCCTTCAGAGCCCTTCCCCCCAGGGTCTGGCATGGACTCTTAGACTTCCCAGTGGAGGCTGCTCTTGTGCCCATGGCTAGGTCTGCTGTGTATATCGCATGTTCTTCCTTGCTCTCAGGCTTAGATATGACCTGGGTTGGTGAGCCGAGATTCCTAAAGGGAAACAGCATGACTGTGGGGCGCTCCTCATGGCCTCCCCTAGTGGAGGCCCATTGGGACTGAACTCTTCGTCGGCCTAGAGGGGCCAGATTGAAGTGTCGGCCAGCTAGAGGTTCTGGGTGCGTCCTTGAAGATGGTCCCTGAGGAAGATGTGTGCCAGGCTTGGCTTTTGGCAGGGGATTGTGGAGTGCTAGTCTTTGTTGCTGAGGAGGATTCTGTTCCATGGGCTCAGCCAGGTTCACTGAGTCAGTAACAGAGCACTCTGAAAAAGAAAATGAGGCCCCTTATAAAGAGAACAGATAGTAACAGAATAACTGGTTTCTTATGCCCGGAGCCCATGGAACTATTCCAGTGGACTGCCTCAAAAGGTCTCAGGCTAAACACTACACCTCCAAATTCCTAGTACCTGGAAGCAGCCACCCCATGTCCACACCATATTGTCTCCAGGCAAGAGAAGAGGTGATAGAGACTCCAGGCTGCATCCAACTCAGCACATCCTGAAGCTGTGGGCAGGGACAGAGGTATGAAGACCACAATCCTTGAAACAGCCACCCCACACTCTGCCCTTACATGTTTTGCCCCAGCGAAACCTGCTGTGCCTGCGGTGTAGGCAGTGCTTTCTCCAGCTGACACAAGTACTCAAAAAGCAGCTTTTCCATGGCAGCCAGAAAGGGTTCCCCATACTCTTGTTCAAGTTCCTACAGCAGGGGAGATTAGGTCAAAAGTGGGTTAGTGGCCAGGCACGGTGGCTCACGCCTGTAATCCTGGCCATTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAATTAGCTGGGCATTTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGATTCCTCAAAAAAAAAAAAAAATGGGTTAGAGAAAATAGCCACATAATAGCCTTCAAACCAGTCTCACCTGCAGCTTCGAGGCCAAATCCACAGGAGCCTCTGACAGCTGCTTCACCTGCTGGTAAAAAGTTTCCTGTGCCTCCAAAATCTTCCTCAGATCCTGCTTTGTCTGTTGAGGATACAGAAGACAGAGAAGTTAGCACCAACATCCAGTAGACAGGAGGAGCAACTTTGCTGCACCAAGTGTAACTGGGGTCAGGGCTTGTTCCGGGGATTACTCACAGCCTTGGGATCCCGCACTATAGGTCCAGATTCTGGAAAGTGGTGATTCAGGGCTTTCAGGACTTGGGCCCAAGGCCGGCCCTGCAGGATCAGCTCCACCACCACCTGTACGGTACTGAATTCAGAATCCCCACTTCGGGGCAAGCTGACCTTTTCCAACTAGTCTCATCCCCAAGCTGTGGGCCCTTGTCAGGTGCTCGCATCCCGCCCCTTTCTTTCTTTCCCCTTCCAGGTCCTACTTGCTCCAATACCTTGGCCTTTAGGCCCATACAAAGGCGTTCGTGGTGCCGGTAGCGAACCAAGCCAGGGGCAACAGCGCGCAGAGATCGCAGAAACTCCAGTACTCGCGGAAAATGTTCCACGCAGCGTCCGCGCACAACCTGCCAGCTAGCCGCGGCGGCGAAGCGTAGAGCTGCGGGACCCGCCACCAGGGGCGTAGCCATGGTCGGCGGGCTCCGCCCGGAGGCGGTCCCTCCGGGTTCCTCACCCGGATGGGTGAGGCTTTCCGATCACTCCTAGGGGCGGGGCTTCTGGCAACTCCCTGTCGCTCCGGTCTGTCGGCTCTGGGTACCTCGCGATCTGACTCGGCTCCCTTCCATCGGCCCCCAGAATTCTGGGGGAGGGGGTCTTCTGGCTCGGGCTGGAGGAGCCTGAGTGGAGAAGCTGACCGTCTCCAGTGGCACTGGGTCGCTCAGCTTTAAACGTCGCCGCTGTCTCGAGCCCGAGGGTGCCTCACTTCCGGCTCCGCTACTAGCTTCCCTTGCCCCGGAAAAGGGCGGTAAGAGGGAGCCAATGGGCGG
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Task1_train_19596
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A variant affecting Chromosome 14, within the gene TGM1 (transglutaminase 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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CAAAGATCAACATAGCTTCCTTCTCAGCTTTGGCCTAATGGCGAAGGTGGCAGCCACCACCAGGAGAGCTGCTGTGTGTGAGGGAGGGGTGGGCAAGTGGGCAGGGGGTCCTCTGCTTCCTCCCCTCAGTTTCCCCACCCCAAGCCATTGTTCTTTCTCAGGAACTCGCTGTCTGAAGATGAAGCCTGCCCCTGTCCCAGAAGGCTGATCTAGAAGGCCAGGCTCTGGCCTGCTCTGCTTTCCCTCCGTGCTTTTCCTAGGCGGGGACGGGGCAGCACGTGTAAGTCTGTATCAAAGATGACAGCCGCAGGCCCAGGAACACAGCATGTGTGTGCCCTCACTACACCCAGGGGCTTGCCCAGCCCAGGATCAGGCCCAGACGGGCTGGGTAAGGGCCTGAGGGATGGAGTTCTCTCCTCTGGAACTGCTACTTGGCCCTCATGGCACAAAACAAACAATGAGTTTGAGAGCCTGTGCATGGTATGCACCACAGTGGGAAGAGCAGAGTTTGCCCCCTACGAGCTGTGAGACCATATGAGATGTGACCGCCAGCTTCCCCATCTGTAAGTGGGGGTAATAATGGCAATAATAAAAATAACAACTACCAATGGAGCACTAACTTTGTGCCAAGCAGTGCACTAAACAACCCTAGGTCCAGGGGCTATTGCTATCCCTGCTTTACAGGTGAGAACACTGAGGCTTGAAGGAGAGAAGTCGCTTGCCCAAGGGCATATAGCCAGTAAGTGCTAGAGCTGAACCCGTATCATTAGGATTCCAAAACTTCGCTTGTGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGACAGAGAGAGAGAGAGACACACGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAAACATGGCTCACTTCAGCCTCAACCTCTCCAGGCTCAGGTGATCCTCCCACCTTAGACTCCCAAGTAGCTGGGACAACAGGCGCACAGCACCAAACCTGGTTAATTTTTTAAAAATTTTTTGTAGAAACAGGGTTTCATCATGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCACTCACCTTGGCCTGCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTTCTAATGTACTTAAATTAGAGTTTTTGTGTCCAAAGGAGATAATATTCCTGAAAGGGCCTGGTCAATTCTTCAGTGCTGGGCAAATATTAGCAATGAGTTACTAATGATTCCTATGTGGGCCTTCTGCTCCCTAATTAGATAGTGAGGCAGGGCAAGGACATGGCATAGCACCAGGTGCCCAAGAGGTCTCCCTAAAGGCTGGTGGGACTGAGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCCCACGTCAGAGACCCTGGCCAAACACACGGGGACCGTACACTGCACCAGAGAGGGGAAGCTGCTTAGAAGCAAAACCTCCCCGAGTCCCACATTTATCCTCCTGAGAGAAGATTCCCCAGAAGTCAGAGAAGAAACTCCAACCTATTCCTCAATAAAGGCTGTCACAGAACCAGAGACATAAGATCCCATGCTACAGATGAGGAAACTGAGGCCCCAGAGCCGGTCCTTGACCTTCTCCTACAAAGGCTCATCAGGCCAGCCTGCTGCTGGCTTAGCGCCCACCTCTGATGTCCTTATCCCCTGGCCTTCACTCTCTGACCACCCCTCATGCCCCAGCAAACTGCATTCACCGTGAGGGAGAGGTCTGGGGTGCGCAGACGGAAGGTGTGCTGCTTGGCCAGCACCTGCCCGCTCTCCTTGACGTGGCCTGAGACATTGAGCAGCATGGCCCCCTGGTCCACAAGATGGGGCCGGTATTCCTTGTAGGCCACTGGCATGGTCACACGGTCCGCTGTGGAGAAGAGGCATGGCGTCACTGAGGCCTGCTTCCCTACATGAGGCTTCCCCCAGGGACTCCCCACTGCTCCTGGGGTCTCCATGTCCACAGCCCTGAGGTGCCCAGCCATCCAGGGGGCAGGGCTGGGTAAGGAGCACTTACAGGCCCCTGGTGCCAGCTCCACTTCCTTCTTGGTCTCCTTGAAGATGGTACCACTGACACCAGTATAGAAAGTGACTGAGAGGTAGAGGTGCAGTTTCACTGTGCGGCGGCTGCTGCTGTGATTGATCAGCATCACAGAGACCATCAGATCCTGCCCCATCACCGCGTCCTGTGCCTCCACCTGCATGGCCACATCCTCCGCTGAGCCCCGGTTGGCATACACATTGGGTTTGCTGCCGTGGGCTGCTGCTGTCTCTACTGCCTTCCGCTCTGCGTCTGAGCCTGGGGGTTGAGGGTCAAGGGTGAGGTTCCAATTCCCACGTGGGTGGCCAAGCACTTGGCAGGAACACTTGTTGTGGGGCCCAGAGCTGGCTGGGTTGGGGGAATGGTACCTTCTGGGTGCTTATAGAGGTAGGTGATGTCCTCCCGCATGTTGGAGCTGATGGCCTTTGTGACAATGAGTGTGCCGATGGCCTTCTCCTCCACATAAACAATCTTGAAGCTGCCATCATCCTGCCGCTGCCAGTACACCTTGTCACTATTCACCTGTGGGGGGTGGGGGTGAGCAGGAATGAGTGAGCCAGAGGGTCTGAGGGTGGCCTGACTCCCGGCCTCCTTCCCCTGATCCCAGGAGCTATGGGACAGGGCTTGGTCCCAAGGGTGGGAGCTTCCTGGCAGAGCCCAAGGGGAGACTTTCCAAGACGAGCCAGACGAGGCCAGAGTGCAGGGAAGAAGCTGGTCTGGGAGGCTCCTGGCAGAGCACTTTGGCAATATCAGTAATCCCTCACACTCAATGGCTGACTTTACGACTAGTGAAGCAGTTTCATACCCGTTATCTCTTCTGATCCCGAGTATAGGAAGCAAGGCAGCCTTGATTATCCCCTTTTACAGGTGAGGAAACTGACTTGTATAATGAGTGACTTGCCCCGGGTCGCAGAGCTGGTCAGTCAGCGGTGAAGTTGGGACCAGAGAACCCATGACTGAAGCCCAAGAAGGCACCTGGAGCCCAGCCCTCACCTCAGCAAAAATGAAAGGCGTGTCGTACTTCATGTAGACCAGGCCATTCTTGATGGACTCCACAGAGCAGGGGCCGCAGCAGAAGATGCCTAGAGAGTGAGGCGGGACAGAGGCAAGAGATCTGAGAAGGCGGAGAGGGCTCTTCAGACCCTGGGTAAGGTCCACACAGGGCCCCAGCCCCACCCACTCAGGCCCGGTCCCACTGCCTGGTGGCCTCTGGAACAAGGTCATCAGCCCTGACCCAAACACTTGGGGGTCAGTTGACAGCCAGTGCAACACAGGTATGGAAAACAAAGAGAGAGCGGCTCCATTTGGCTCTCAATCTGCTTTCCTCAGCCCAGGCTGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGA
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CAAAGATCAACATAGCTTCCTTCTCAGCTTTGGCCTAATGGCGAAGGTGGCAGCCACCACCAGGAGAGCTGCTGTGTGTGAGGGAGGGGTGGGCAAGTGGGCAGGGGGTCCTCTGCTTCCTCCCCTCAGTTTCCCCACCCCAAGCCATTGTTCTTTCTCAGGAACTCGCTGTCTGAAGATGAAGCCTGCCCCTGTCCCAGAAGGCTGATCTAGAAGGCCAGGCTCTGGCCTGCTCTGCTTTCCCTCCGTGCTTTTCCTAGGCGGGGACGGGGCAGCACGTGTAAGTCTGTATCAAAGATGACAGCCGCAGGCCCAGGAACACAGCATGTGTGTGCCCTCACTACACCCAGGGGCTTGCCCAGCCCAGGATCAGGCCCAGACGGGCTGGGTAAGGGCCTGAGGGATGGAGTTCTCTCCTCTGGAACTGCTACTTGGCCCTCATGGCACAAAACAAACAATGAGTTTGAGAGCCTGTGCATGGTATGCACCACAGTGGGAAGAGCAGAGTTTGCCCCCTACGAGCTGTGAGACCATATGAGATGTGACCGCCAGCTTCCCCATCTGTAAGTGGGGGTAATAATGGCAATAATAAAAATAACAACTACCAATGGAGCACTAACTTTGTGCCAAGCAGTGCACTAAACAACCCTAGGTCCAGGGGCTATTGCTATCCCTGCTTTACAGGTGAGAACACTGAGGCTTGAAGGAGAGAAGTCGCTTGCCCAAGGGCATATAGCCAGTAAGTGCTAGAGCTGAACCCGTATCATTAGGATTCCAAAACTTCGCTTGTGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGACAGAGAGAGAGAGAGACACACGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAAACATGGCTCACTTCAGCCTCAACCTCTCCAGGCTCAGGTGATCCTCCCACCTTAGACTCCCAAGTAGCTGGGACAACAGGCGCACAGCACCAAACCTGGTTAATTTTTTAAAAATTTTTTGTAGAAACAGGGTTTCATCATGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCACTCACCTTGGCCTGCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTTCTAATGTACTTAAATTAGAGTTTTTGTGTCCAAAGGAGATAATATTCCTGAAAGGGCCTGGTCAATTCTTCAGTGCTGGGCAAATATTAGCAATGAGTTACTAATGATTCCTATGTGGGCCTTCTGCTCCCTAATTAGATAGTGAGGCAGGGCAAGGACATGGCATAGCACCAGGTGCCCAAGAGGTCTCCCTAAAGGCTGGTGGGACTGAGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCCCACGTCAGAGACCCTGGCCAAACACACGGGGACCGTACACTGCACCAGAGAGGGGAAGCTGCTTAGAAGCAAAACCTCCCCGAGTCCCACATTTATCCTCCTGAGAGAAGATTCCCCAGAAGTCAGAGAAGAAACTCCAACCTATTCCTCAATAAAGGCTGTCACAGAACCAGAGACATAAGATCCCATGCTACAGATGAGGAAACTGAGGCCCCAGAGCCGGTCCTTGACCTTCTCCTACAAAGGCTCATCAGGCCAGCCTGCTGCTGGCTTAGCGCCCACCTCTGATGTCCTTATCCCCTGGCCTTCACTCTCTGACCACCCCTCATGCCCCAGCAAACTGCATTCACCGTGAGGGAGAGGTCTGGGGTGCGCAGATGGAAGGTGTGCTGCTTGGCCAGCACCTGCCCGCTCTCCTTGACGTGGCCTGAGACATTGAGCAGCATGGCCCCCTGGTCCACAAGATGGGGCCGGTATTCCTTGTAGGCCACTGGCATGGTCACACGGTCCGCTGTGGAGAAGAGGCATGGCGTCACTGAGGCCTGCTTCCCTACATGAGGCTTCCCCCAGGGACTCCCCACTGCTCCTGGGGTCTCCATGTCCACAGCCCTGAGGTGCCCAGCCATCCAGGGGGCAGGGCTGGGTAAGGAGCACTTACAGGCCCCTGGTGCCAGCTCCACTTCCTTCTTGGTCTCCTTGAAGATGGTACCACTGACACCAGTATAGAAAGTGACTGAGAGGTAGAGGTGCAGTTTCACTGTGCGGCGGCTGCTGCTGTGATTGATCAGCATCACAGAGACCATCAGATCCTGCCCCATCACCGCGTCCTGTGCCTCCACCTGCATGGCCACATCCTCCGCTGAGCCCCGGTTGGCATACACATTGGGTTTGCTGCCGTGGGCTGCTGCTGTCTCTACTGCCTTCCGCTCTGCGTCTGAGCCTGGGGGTTGAGGGTCAAGGGTGAGGTTCCAATTCCCACGTGGGTGGCCAAGCACTTGGCAGGAACACTTGTTGTGGGGCCCAGAGCTGGCTGGGTTGGGGGAATGGTACCTTCTGGGTGCTTATAGAGGTAGGTGATGTCCTCCCGCATGTTGGAGCTGATGGCCTTTGTGACAATGAGTGTGCCGATGGCCTTCTCCTCCACATAAACAATCTTGAAGCTGCCATCATCCTGCCGCTGCCAGTACACCTTGTCACTATTCACCTGTGGGGGGTGGGGGTGAGCAGGAATGAGTGAGCCAGAGGGTCTGAGGGTGGCCTGACTCCCGGCCTCCTTCCCCTGATCCCAGGAGCTATGGGACAGGGCTTGGTCCCAAGGGTGGGAGCTTCCTGGCAGAGCCCAAGGGGAGACTTTCCAAGACGAGCCAGACGAGGCCAGAGTGCAGGGAAGAAGCTGGTCTGGGAGGCTCCTGGCAGAGCACTTTGGCAATATCAGTAATCCCTCACACTCAATGGCTGACTTTACGACTAGTGAAGCAGTTTCATACCCGTTATCTCTTCTGATCCCGAGTATAGGAAGCAAGGCAGCCTTGATTATCCCCTTTTACAGGTGAGGAAACTGACTTGTATAATGAGTGACTTGCCCCGGGTCGCAGAGCTGGTCAGTCAGCGGTGAAGTTGGGACCAGAGAACCCATGACTGAAGCCCAAGAAGGCACCTGGAGCCCAGCCCTCACCTCAGCAAAAATGAAAGGCGTGTCGTACTTCATGTAGACCAGGCCATTCTTGATGGACTCCACAGAGCAGGGGCCGCAGCAGAAGATGCCTAGAGAGTGAGGCGGGACAGAGGCAAGAGATCTGAGAAGGCGGAGAGGGCTCTTCAGACCCTGGGTAAGGTCCACACAGGGCCCCAGCCCCACCCACTCAGGCCCGGTCCCACTGCCTGGTGGCCTCTGGAACAAGGTCATCAGCCCTGACCCAAACACTTGGGGGTCAGTTGACAGCCAGTGCAACACAGGTATGGAAAACAAAGAGAGAGCGGCTCCATTTGGCTCTCAATCTGCTTTCCTCAGCCCAGGCTGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGA
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Task1_train_19597
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A mutation in TGM1 (transglutaminase 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Lamellar ichthyosis
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AGGCTTGAAGGAGAGAAGTCGCTTGCCCAAGGGCATATAGCCAGTAAGTGCTAGAGCTGAACCCGTATCATTAGGATTCCAAAACTTCGCTTGTGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGACAGAGAGAGAGAGAGACACACGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAAACATGGCTCACTTCAGCCTCAACCTCTCCAGGCTCAGGTGATCCTCCCACCTTAGACTCCCAAGTAGCTGGGACAACAGGCGCACAGCACCAAACCTGGTTAATTTTTTAAAAATTTTTTGTAGAAACAGGGTTTCATCATGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCACTCACCTTGGCCTGCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTTCTAATGTACTTAAATTAGAGTTTTTGTGTCCAAAGGAGATAATATTCCTGAAAGGGCCTGGTCAATTCTTCAGTGCTGGGCAAATATTAGCAATGAGTTACTAATGATTCCTATGTGGGCCTTCTGCTCCCTAATTAGATAGTGAGGCAGGGCAAGGACATGGCATAGCACCAGGTGCCCAAGAGGTCTCCCTAAAGGCTGGTGGGACTGAGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCCCACGTCAGAGACCCTGGCCAAACACACGGGGACCGTACACTGCACCAGAGAGGGGAAGCTGCTTAGAAGCAAAACCTCCCCGAGTCCCACATTTATCCTCCTGAGAGAAGATTCCCCAGAAGTCAGAGAAGAAACTCCAACCTATTCCTCAATAAAGGCTGTCACAGAACCAGAGACATAAGATCCCATGCTACAGATGAGGAAACTGAGGCCCCAGAGCCGGTCCTTGACCTTCTCCTACAAAGGCTCATCAGGCCAGCCTGCTGCTGGCTTAGCGCCCACCTCTGATGTCCTTATCCCCTGGCCTTCACTCTCTGACCACCCCTCATGCCCCAGCAAACTGCATTCACCGTGAGGGAGAGGTCTGGGGTGCGCAGACGGAAGGTGTGCTGCTTGGCCAGCACCTGCCCGCTCTCCTTGACGTGGCCTGAGACATTGAGCAGCATGGCCCCCTGGTCCACAAGATGGGGCCGGTATTCCTTGTAGGCCACTGGCATGGTCACACGGTCCGCTGTGGAGAAGAGGCATGGCGTCACTGAGGCCTGCTTCCCTACATGAGGCTTCCCCCAGGGACTCCCCACTGCTCCTGGGGTCTCCATGTCCACAGCCCTGAGGTGCCCAGCCATCCAGGGGGCAGGGCTGGGTAAGGAGCACTTACAGGCCCCTGGTGCCAGCTCCACTTCCTTCTTGGTCTCCTTGAAGATGGTACCACTGACACCAGTATAGAAAGTGACTGAGAGGTAGAGGTGCAGTTTCACTGTGCGGCGGCTGCTGCTGTGATTGATCAGCATCACAGAGACCATCAGATCCTGCCCCATCACCGCGTCCTGTGCCTCCACCTGCATGGCCACATCCTCCGCTGAGCCCCGGTTGGCATACACATTGGGTTTGCTGCCGTGGGCTGCTGCTGTCTCTACTGCCTTCCGCTCTGCGTCTGAGCCTGGGGGTTGAGGGTCAAGGGTGAGGTTCCAATTCCCACGTGGGTGGCCAAGCACTTGGCAGGAACACTTGTTGTGGGGCCCAGAGCTGGCTGGGTTGGGGGAATGGTACCTTCTGGGTGCTTATAGAGGTAGGTGATGTCCTCCCGCATGTTGGAGCTGATGGCCTTTGTGACAATGAGTGTGCCGATGGCCTTCTCCTCCACATAAACAATCTTGAAGCTGCCATCATCCTGCCGCTGCCAGTACACCTTGTCACTATTCACCTGTGGGGGGTGGGGGTGAGCAGGAATGAGTGAGCCAGAGGGTCTGAGGGTGGCCTGACTCCCGGCCTCCTTCCCCTGATCCCAGGAGCTATGGGACAGGGCTTGGTCCCAAGGGTGGGAGCTTCCTGGCAGAGCCCAAGGGGAGACTTTCCAAGACGAGCCAGACGAGGCCAGAGTGCAGGGAAGAAGCTGGTCTGGGAGGCTCCTGGCAGAGCACTTTGGCAATATCAGTAATCCCTCACACTCAATGGCTGACTTTACGACTAGTGAAGCAGTTTCATACCCGTTATCTCTTCTGATCCCGAGTATAGGAAGCAAGGCAGCCTTGATTATCCCCTTTTACAGGTGAGGAAACTGACTTGTATAATGAGTGACTTGCCCCGGGTCGCAGAGCTGGTCAGTCAGCGGTGAAGTTGGGACCAGAGAACCCATGACTGAAGCCCAAGAAGGCACCTGGAGCCCAGCCCTCACCTCAGCAAAAATGAAAGGCGTGTCGTACTTCATGTAGACCAGGCCATTCTTGATGGACTCCACAGAGCAGGGGCCGCAGCAGAAGATGCCTAGAGAGTGAGGCGGGACAGAGGCAAGAGATCTGAGAAGGCGGAGAGGGCTCTTCAGACCCTGGGTAAGGTCCACACAGGGCCCCAGCCCCACCCACTCAGGCCCGGTCCCACTGCCTGGTGGCCTCTGGAACAAGGTCATCAGCCCTGACCCAAACACTTGGGGGTCAGTTGACAGCCAGTGCAACACAGGTATGGAAAACAAAGAGAGAGCGGCTCCATTTGGCTCTCAATCTGCTTTCCTCAGCCCAGGCTGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATT
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AGGCTTGAAGGAGAGAAGTCGCTTGCCCAAGGGCATATAGCCAGTAAGTGCTAGAGCTGAACCCGTATCATTAGGATTCCAAAACTTCGCTTGTGTGTGTGTGTCTCTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGACAGAGAGAGAGAGAGACACACGGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAAACATGGCTCACTTCAGCCTCAACCTCTCCAGGCTCAGGTGATCCTCCCACCTTAGACTCCCAAGTAGCTGGGACAACAGGCGCACAGCACCAAACCTGGTTAATTTTTTAAAAATTTTTTGTAGAAACAGGGTTTCATCATGTTGCCCAGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCCACTCACCTTGGCCTGCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTTCTAATGTACTTAAATTAGAGTTTTTGTGTCCAAAGGAGATAATATTCCTGAAAGGGCCTGGTCAATTCTTCAGTGCTGGGCAAATATTAGCAATGAGTTACTAATGATTCCTATGTGGGCCTTCTGCTCCCTAATTAGATAGTGAGGCAGGGCAAGGACATGGCATAGCACCAGGTGCCCAAGAGGTCTCCCTAAAGGCTGGTGGGACTGAGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCCCACGTCAGAGACCCTGGCCAAACACACGGGGACCGTACACTGCACCAGAGAGGGGAAGCTGCTTAGAAGCAAAACCTCCCCGAGTCCCACATTTATCCTCCTGAGAGAAGATTCCCCAGAAGTCAGAGAAGAAACTCCAACCTATTCCTCAATAAAGGCTGTCACAGAACCAGAGACATAAGATCCCATGCTACAGATGAGGAAACTGAGGCCCCAGAGCCGGTCCTTGACCTTCTCCTACAAAGGCTCATCAGGCCAGCCTGCTGCTGGCTTAGCGCCCACCTCTGATGTCCTTATCCCCTGGCCTTCACTCTCTGACCACCCCTCATGCCCCAGCAAACTGCATTCACCGTGAGGGAGAGGTCTGGGGTGCGCAGACGGAAGGTGTGCTGCTTGGCCAGCACCTGCCCGCTCTCCTTGACGTGGCCTGAGACATTGAGCAGCATGGCCCCCTGGTCCACAAGATGGGGCCGGTATTCCTTGTAGGCCACTGGCATGGTCACACGGTCCGCTGTGGAGAAGAGGCATGGCGTCACTGAGGCCTGCTTCCCTACATGAGGCTTCCCCCAGGGACTCCCCACTGCTCCTGGGGTCTCCATGTCCACAGCCCTGAGGTGCCCAGCCATCCAGGGGGCAGGGCTGGGTAAGGAGCACTTACAGGCCCCTGGTGCCAGCTCCACTTCCTTCTTGGTCTCCTTGAAGATGGTACCACTGACACCAGTATAGAAAGTGACTGAGAGGTAGAGGTGCAGTTTCACTGTGCGGCGGCTGCTGCTGTGATTGATCAGCATCACAGAGACCATCAGATCCTGCCCCATCACCGCGTCCTGTGCCTCCACCTGCATGGCCACATCCTCCGCTGAGCCCCGGTTGGCATACACATTGGGTTTGCTGCCGTGGGCTGCTGCTGTCTCTACTGCCTTCCGCTCTGCGTCTGAGCCTGGGGGTTGAGGGTCAAGGGTGAGGTTCCAATTCCCACGTGGGTGGCCAAGCACTTGGCAGGAACACTTGTTGTGGGGCCCAGAGCTGGCTGGGTTGGGGGAATGGTACCTTCTGGGTGCTTATAGAGGTAGGGGATGTCCTCCCGCATGTTGGAGCTGATGGCCTTTGTGACAATGAGTGTGCCGATGGCCTTCTCCTCCACATAAACAATCTTGAAGCTGCCATCATCCTGCCGCTGCCAGTACACCTTGTCACTATTCACCTGTGGGGGGTGGGGGTGAGCAGGAATGAGTGAGCCAGAGGGTCTGAGGGTGGCCTGACTCCCGGCCTCCTTCCCCTGATCCCAGGAGCTATGGGACAGGGCTTGGTCCCAAGGGTGGGAGCTTCCTGGCAGAGCCCAAGGGGAGACTTTCCAAGACGAGCCAGACGAGGCCAGAGTGCAGGGAAGAAGCTGGTCTGGGAGGCTCCTGGCAGAGCACTTTGGCAATATCAGTAATCCCTCACACTCAATGGCTGACTTTACGACTAGTGAAGCAGTTTCATACCCGTTATCTCTTCTGATCCCGAGTATAGGAAGCAAGGCAGCCTTGATTATCCCCTTTTACAGGTGAGGAAACTGACTTGTATAATGAGTGACTTGCCCCGGGTCGCAGAGCTGGTCAGTCAGCGGTGAAGTTGGGACCAGAGAACCCATGACTGAAGCCCAAGAAGGCACCTGGAGCCCAGCCCTCACCTCAGCAAAAATGAAAGGCGTGTCGTACTTCATGTAGACCAGGCCATTCTTGATGGACTCCACAGAGCAGGGGCCGCAGCAGAAGATGCCTAGAGAGTGAGGCGGGACAGAGGCAAGAGATCTGAGAAGGCGGAGAGGGCTCTTCAGACCCTGGGTAAGGTCCACACAGGGCCCCAGCCCCACCCACTCAGGCCCGGTCCCACTGCCTGGTGGCCTCTGGAACAAGGTCATCAGCCCTGACCCAAACACTTGGGGGTCAGTTGACAGCCAGTGCAACACAGGTATGGAAAACAAAGAGAGAGCGGCTCCATTTGGCTCTCAATCTGCTTTCCTCAGCCCAGGCTGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATT
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Task1_train_19598
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A variant was discovered on Chromosome 14, affecting TGM1 (transglutaminase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Autosomal recessive congenital ichthyosis 1
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AGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCCCACGTCAGAGACCCTGGCCAAACACACGGGGACCGTACACTGCACCAGAGAGGGGAAGCTGCTTAGAAGCAAAACCTCCCCGAGTCCCACATTTATCCTCCTGAGAGAAGATTCCCCAGAAGTCAGAGAAGAAACTCCAACCTATTCCTCAATAAAGGCTGTCACAGAACCAGAGACATAAGATCCCATGCTACAGATGAGGAAACTGAGGCCCCAGAGCCGGTCCTTGACCTTCTCCTACAAAGGCTCATCAGGCCAGCCTGCTGCTGGCTTAGCGCCCACCTCTGATGTCCTTATCCCCTGGCCTTCACTCTCTGACCACCCCTCATGCCCCAGCAAACTGCATTCACCGTGAGGGAGAGGTCTGGGGTGCGCAGACGGAAGGTGTGCTGCTTGGCCAGCACCTGCCCGCTCTCCTTGACGTGGCCTGAGACATTGAGCAGCATGGCCCCCTGGTCCACAAGATGGGGCCGGTATTCCTTGTAGGCCACTGGCATGGTCACACGGTCCGCTGTGGAGAAGAGGCATGGCGTCACTGAGGCCTGCTTCCCTACATGAGGCTTCCCCCAGGGACTCCCCACTGCTCCTGGGGTCTCCATGTCCACAGCCCTGAGGTGCCCAGCCATCCAGGGGGCAGGGCTGGGTAAGGAGCACTTACAGGCCCCTGGTGCCAGCTCCACTTCCTTCTTGGTCTCCTTGAAGATGGTACCACTGACACCAGTATAGAAAGTGACTGAGAGGTAGAGGTGCAGTTTCACTGTGCGGCGGCTGCTGCTGTGATTGATCAGCATCACAGAGACCATCAGATCCTGCCCCATCACCGCGTCCTGTGCCTCCACCTGCATGGCCACATCCTCCGCTGAGCCCCGGTTGGCATACACATTGGGTTTGCTGCCGTGGGCTGCTGCTGTCTCTACTGCCTTCCGCTCTGCGTCTGAGCCTGGGGGTTGAGGGTCAAGGGTGAGGTTCCAATTCCCACGTGGGTGGCCAAGCACTTGGCAGGAACACTTGTTGTGGGGCCCAGAGCTGGCTGGGTTGGGGGAATGGTACCTTCTGGGTGCTTATAGAGGTAGGTGATGTCCTCCCGCATGTTGGAGCTGATGGCCTTTGTGACAATGAGTGTGCCGATGGCCTTCTCCTCCACATAAACAATCTTGAAGCTGCCATCATCCTGCCGCTGCCAGTACACCTTGTCACTATTCACCTGTGGGGGGTGGGGGTGAGCAGGAATGAGTGAGCCAGAGGGTCTGAGGGTGGCCTGACTCCCGGCCTCCTTCCCCTGATCCCAGGAGCTATGGGACAGGGCTTGGTCCCAAGGGTGGGAGCTTCCTGGCAGAGCCCAAGGGGAGACTTTCCAAGACGAGCCAGACGAGGCCAGAGTGCAGGGAAGAAGCTGGTCTGGGAGGCTCCTGGCAGAGCACTTTGGCAATATCAGTAATCCCTCACACTCAATGGCTGACTTTACGACTAGTGAAGCAGTTTCATACCCGTTATCTCTTCTGATCCCGAGTATAGGAAGCAAGGCAGCCTTGATTATCCCCTTTTACAGGTGAGGAAACTGACTTGTATAATGAGTGACTTGCCCCGGGTCGCAGAGCTGGTCAGTCAGCGGTGAAGTTGGGACCAGAGAACCCATGACTGAAGCCCAAGAAGGCACCTGGAGCCCAGCCCTCACCTCAGCAAAAATGAAAGGCGTGTCGTACTTCATGTAGACCAGGCCATTCTTGATGGACTCCACAGAGCAGGGGCCGCAGCAGAAGATGCCTAGAGAGTGAGGCGGGACAGAGGCAAGAGATCTGAGAAGGCGGAGAGGGCTCTTCAGACCCTGGGTAAGGTCCACACAGGGCCCCAGCCCCACCCACTCAGGCCCGGTCCCACTGCCTGGTGGCCTCTGGAACAAGGTCATCAGCCCTGACCCAAACACTTGGGGGTCAGTTGACAGCCAGTGCAACACAGGTATGGAAAACAAAGAGAGAGCGGCTCCATTTGGCTCTCAATCTGCTTTCCTCAGCCCAGGCTGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAG
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AGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCCCACGTCAGAGACCCTGGCCAAACACACGGGGACCGTACACTGCACCAGAGAGGGGAAGCTGCTTAGAAGCAAAACCTCCCCGAGTCCCACATTTATCCTCCTGAGAGAAGATTCCCCAGAAGTCAGAGAAGAAACTCCAACCTATTCCTCAATAAAGGCTGTCACAGAACCAGAGACATAAGATCCCATGCTACAGATGAGGAAACTGAGGCCCCAGAGCCGGTCCTTGACCTTCTCCTACAAAGGCTCATCAGGCCAGCCTGCTGCTGGCTTAGCGCCCACCTCTGATGTCCTTATCCCCTGGCCTTCACTCTCTGACCACCCCTCATGCCCCAGCAAACTGCATTCACCGTGAGGGAGAGGTCTGGGGTGCGCAGACGGAAGGTGTGCTGCTTGGCCAGCACCTGCCCGCTCTCCTTGACGTGGCCTGAGACATTGAGCAGCATGGCCCCCTGGTCCACAAGATGGGGCCGGTATTCCTTGTAGGCCACTGGCATGGTCACACGGTCCGCTGTGGAGAAGAGGCATGGCGTCACTGAGGCCTGCTTCCCTACATGAGGCTTCCCCCAGGGACTCCCCACTGCTCCTGGGGTCTCCATGTCCACAGCCCTGAGGTGCCCAGCCATCCAGGGGGCAGGGCTGGGTAAGGAGCACTTACAGGCCCCTGGTGCCAGCTCCACTTCCTTCTTGGTCTCCTTGAAGATGGTACCACTGACACCAGTATAGAAAGTGACTGAGAGGTAGAGGTGCAGTTTCACTGTGCGGCGGCTGCTGCTGTGATTGATCAGCATCACAGAGACCATCAGATCCTGCCCCATCACCGCGTCCTGTGCCTCCACCTGCATGGCCACATCCTCCGCTGAGCCCCGGTTGGCATACACATTGGGTTTGCTGCCGTGGGCTGCTGCTGTCTCTACTGCCTTCCGCTCTGCGTCTGAGCCTGGGGGTTGAGGGTCAAGGGTGAGGTTCCAATTCCCACGTGGGTGGCCAAGCACTTGGCAGGAACACTTGTTGTGGGGCCCAGAGCTGGCTGGGTTGGGGGAATGGTACCTTCTGGGTGCTTATAGAGGTAGGTGATGTCCTCCCGCATGTTGGAGCTGATGGCCTTTGTGACAATGAGTGTGCCGATGGCCTTCTCCTCCACATAAACAATCTTGAAGCTGCCATCATCCTGCCGCTGCCAGTACACCTTGTCACTATTCACCTGTGGGGGGTGGGGGTGAGCAGGAATGAGTGAGCCAGAGGGTCTGAGGGTGGCCTGACTCCCGGCCTCCTTCCCCTGATCCCAGGAGCTATGGGACAGGGCTTGGTCCCAAGGGTGGGAGCTTCCTGGCAGAGCCCAAGGGGAGACTTTCCAAGACGAGCCAGACGAGGCCAGAGTGCAGGGAAGAAGCTGGTCTGGGAGGCTCCTGGCAGAGCACTTTGGCAATATCAGTAATCCCTCACACTCAATGGCTGACTTTACGACTAGTGAAGCAGTTTCATACCCGTTATCTCTTCTGATCCCGAGTATAGGAAGCAAGGCAGCCTTGATTATCCCCTTTTACAGGTGAGGAAACTGACTTGTATAATGAGTGACTTGCCCCGGGTCGCAGAGCTGGTCAGTCAGCGGTGAAGTTGGGACCAGAGAACCCATGACTGAAGCCCAAGAAGGCACCTGGAGCCCAGCCCTCACCTCAGCAAAAATGAAAGGCGTGTCGTACTTCATGTAGACCAGGCCATTCTTGAAGGACTCCACAGAGCAGGGGCCGCAGCAGAAGATGCCTAGAGAGTGAGGCGGGACAGAGGCAAGAGATCTGAGAAGGCGGAGAGGGCTCTTCAGACCCTGGGTAAGGTCCACACAGGGCCCCAGCCCCACCCACTCAGGCCCGGTCCCACTGCCTGGTGGCCTCTGGAACAAGGTCATCAGCCCTGACCCAAACACTTGGGGGTCAGTTGACAGCCAGTGCAACACAGGTATGGAAAACAAAGAGAGAGCGGCTCCATTTGGCTCTCAATCTGCTTTCCTCAGCCCAGGCTGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAG
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Task1_train_19599
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A mutation found in TGM1 (transglutaminase 1) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; not specified
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AGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCCCACGTCAGAGACCCTGGCCAAACACACGGGGACCGTACACTGCACCAGAGAGGGGAAGCTGCTTAGAAGCAAAACCTCCCCGAGTCCCACATTTATCCTCCTGAGAGAAGATTCCCCAGAAGTCAGAGAAGAAACTCCAACCTATTCCTCAATAAAGGCTGTCACAGAACCAGAGACATAAGATCCCATGCTACAGATGAGGAAACTGAGGCCCCAGAGCCGGTCCTTGACCTTCTCCTACAAAGGCTCATCAGGCCAGCCTGCTGCTGGCTTAGCGCCCACCTCTGATGTCCTTATCCCCTGGCCTTCACTCTCTGACCACCCCTCATGCCCCAGCAAACTGCATTCACCGTGAGGGAGAGGTCTGGGGTGCGCAGACGGAAGGTGTGCTGCTTGGCCAGCACCTGCCCGCTCTCCTTGACGTGGCCTGAGACATTGAGCAGCATGGCCCCCTGGTCCACAAGATGGGGCCGGTATTCCTTGTAGGCCACTGGCATGGTCACACGGTCCGCTGTGGAGAAGAGGCATGGCGTCACTGAGGCCTGCTTCCCTACATGAGGCTTCCCCCAGGGACTCCCCACTGCTCCTGGGGTCTCCATGTCCACAGCCCTGAGGTGCCCAGCCATCCAGGGGGCAGGGCTGGGTAAGGAGCACTTACAGGCCCCTGGTGCCAGCTCCACTTCCTTCTTGGTCTCCTTGAAGATGGTACCACTGACACCAGTATAGAAAGTGACTGAGAGGTAGAGGTGCAGTTTCACTGTGCGGCGGCTGCTGCTGTGATTGATCAGCATCACAGAGACCATCAGATCCTGCCCCATCACCGCGTCCTGTGCCTCCACCTGCATGGCCACATCCTCCGCTGAGCCCCGGTTGGCATACACATTGGGTTTGCTGCCGTGGGCTGCTGCTGTCTCTACTGCCTTCCGCTCTGCGTCTGAGCCTGGGGGTTGAGGGTCAAGGGTGAGGTTCCAATTCCCACGTGGGTGGCCAAGCACTTGGCAGGAACACTTGTTGTGGGGCCCAGAGCTGGCTGGGTTGGGGGAATGGTACCTTCTGGGTGCTTATAGAGGTAGGTGATGTCCTCCCGCATGTTGGAGCTGATGGCCTTTGTGACAATGAGTGTGCCGATGGCCTTCTCCTCCACATAAACAATCTTGAAGCTGCCATCATCCTGCCGCTGCCAGTACACCTTGTCACTATTCACCTGTGGGGGGTGGGGGTGAGCAGGAATGAGTGAGCCAGAGGGTCTGAGGGTGGCCTGACTCCCGGCCTCCTTCCCCTGATCCCAGGAGCTATGGGACAGGGCTTGGTCCCAAGGGTGGGAGCTTCCTGGCAGAGCCCAAGGGGAGACTTTCCAAGACGAGCCAGACGAGGCCAGAGTGCAGGGAAGAAGCTGGTCTGGGAGGCTCCTGGCAGAGCACTTTGGCAATATCAGTAATCCCTCACACTCAATGGCTGACTTTACGACTAGTGAAGCAGTTTCATACCCGTTATCTCTTCTGATCCCGAGTATAGGAAGCAAGGCAGCCTTGATTATCCCCTTTTACAGGTGAGGAAACTGACTTGTATAATGAGTGACTTGCCCCGGGTCGCAGAGCTGGTCAGTCAGCGGTGAAGTTGGGACCAGAGAACCCATGACTGAAGCCCAAGAAGGCACCTGGAGCCCAGCCCTCACCTCAGCAAAAATGAAAGGCGTGTCGTACTTCATGTAGACCAGGCCATTCTTGATGGACTCCACAGAGCAGGGGCCGCAGCAGAAGATGCCTAGAGAGTGAGGCGGGACAGAGGCAAGAGATCTGAGAAGGCGGAGAGGGCTCTTCAGACCCTGGGTAAGGTCCACACAGGGCCCCAGCCCCACCCACTCAGGCCCGGTCCCACTGCCTGGTGGCCTCTGGAACAAGGTCATCAGCCCTGACCCAAACACTTGGGGGTCAGTTGACAGCCAGTGCAACACAGGTATGGAAAACAAAGAGAGAGCGGCTCCATTTGGCTCTCAATCTGCTTTCCTCAGCCCAGGCTGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAG
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AGCTGGGCCGGGAGGTATTGCTAGCTGGCCCCAACCTGCTTGGTTGGGTCCTGACAGAACATACTTGTCCAGACAGAGAGGGAGCAAAGCTGGGAGCCAGGGCAGCCTGTGGGGAAGGCCAGAGTGGAAGCAGGGGTAGGGGGAGAGGCCAGACTCACCCAACGTTGAGGATCTTGGGCCTCTGTAACCCAGAGCCTTCGAGCCGGAAGACGACATTGGTGAGGGTGACGGGAAGGGGGTTCTTGAAGACAATCTGTACTTCACACTCCTGGCCAACCACTGCTGCTCCCAGTAACTGAGAGAAAAAGAGGCCCATCCCCCACGTCAGAGACCCTGGCCAAACACACGGGGACCGTACACTGCACCAGAGAGGGGAAGCTGCTTAGAAGCAAAACCTCCCCGAGTCCCACATTTATCCTCCTGAGAGAAGATTCCCCAGAAGTCAGAGAAGAAACTCCAACCTATTCCTCAATAAAGGCTGTCACAGAACCAGAGACATAAGATCCCATGCTACAGATGAGGAAACTGAGGCCCCAGAGCCGGTCCTTGACCTTCTCCTACAAAGGCTCATCAGGCCAGCCTGCTGCTGGCTTAGCGCCCACCTCTGATGTCCTTATCCCCTGGCCTTCACTCTCTGACCACCCCTCATGCCCCAGCAAACTGCATTCACCGTGAGGGAGAGGTCTGGGGTGCGCAGACGGAAGGTGTGCTGCTTGGCCAGCACCTGCCCGCTCTCCTTGACGTGGCCTGAGACATTGAGCAGCATGGCCCCCTGGTCCACAAGATGGGGCCGGTATTCCTTGTAGGCCACTGGCATGGTCACACGGTCCGCTGTGGAGAAGAGGCATGGCGTCACTGAGGCCTGCTTCCCTACATGAGGCTTCCCCCAGGGACTCCCCACTGCTCCTGGGGTCTCCATGTCCACAGCCCTGAGGTGCCCAGCCATCCAGGGGGCAGGGCTGGGTAAGGAGCACTTACAGGCCCCTGGTGCCAGCTCCACTTCCTTCTTGGTCTCCTTGAAGATGGTACCACTGACACCAGTATAGAAAGTGACTGAGAGGTAGAGGTGCAGTTTCACTGTGCGGCGGCTGCTGCTGTGATTGATCAGCATCACAGAGACCATCAGATCCTGCCCCATCACCGCGTCCTGTGCCTCCACCTGCATGGCCACATCCTCCGCTGAGCCCCGGTTGGCATACACATTGGGTTTGCTGCCGTGGGCTGCTGCTGTCTCTACTGCCTTCCGCTCTGCGTCTGAGCCTGGGGGTTGAGGGTCAAGGGTGAGGTTCCAATTCCCACGTGGGTGGCCAAGCACTTGGCAGGAACACTTGTTGTGGGGCCCAGAGCTGGCTGGGTTGGGGGAATGGTACCTTCTGGGTGCTTATAGAGGTAGGTGATGTCCTCCCGCATGTTGGAGCTGATGGCCTTTGTGACAATGAGTGTGCCGATGGCCTTCTCCTCCACATAAACAATCTTGAAGCTGCCATCATCCTGCCGCTGCCAGTACACCTTGTCACTATTCACCTGTGGGGGGTGGGGGTGAGCAGGAATGAGTGAGCCAGAGGGTCTGAGGGTGGCCTGACTCCCGGCCTCCTTCCCCTGATCCCAGGAGCTATGGGACAGGGCTTGGTCCCAAGGGTGGGAGCTTCCTGGCAGAGCCCAAGGGGAGACTTTCCAAGACGAGCCAGACGAGGCCAGAGTGCAGGGAAGAAGCTGGTCTGGGAGGCTCCTGGCAGAGCACTTTGGCAATATCAGTAATCCCTCACACTCAATGGCTGACTTTACGACTAGTGAAGCAGTTTCATACCCGTTATCTCTTCTGATCCCGAGTATAGGAAGCAAGGCAGCCTTGATTATCCCCTTTTACAGGTGAGGAAACTGACTTGTATAATGAGTGACTTGCCCCGGGTCGCAGAGCTGGTCAGTCAGCGGTGAAGTTGGGACCAGAGAACCCATGACTGAAGCCCAAGAAGGCACCTGGAGCCCAGCCCTCACCTCAGCAAAAATGAAAGGCGTGTCGTACTTCATGTAGACCAGGCCATTCTTGAAGGACTCCACAGAGCAGGGGCCGCAGCAGAAGATGCCTAGAGAGTGAGGCGGGACAGAGGCAAGAGATCTGAGAAGGCGGAGAGGGCTCTTCAGACCCTGGGTAAGGTCCACACAGGGCCCCAGCCCCACCCACTCAGGCCCGGTCCCACTGCCTGGTGGCCTCTGGAACAAGGTCATCAGCCCTGACCCAAACACTTGGGGGTCAGTTGACAGCCAGTGCAACACAGGTATGGAAAACAAAGAGAGAGCGGCTCCATTTGGCTCTCAATCTGCTTTCCTCAGCCCAGGCTGCTCTGCTGGAGGATGGGGGCAGGGTACAGATGTGCGGACCAGCCTGCCTGATAACCAAGTCCCTGACATACTCTTTCATGGCTGGCTGACACTGGATGTCCACCATCTGTGACCCCCAGAGGACAGGACGCCCCATCCTTTATCATAACCAACCCAGAGTCCACAGTGGCCCTGCCTGCTGGCTGGGAGAGCGAGGACACCACCGCCACCACCATTCCAGAGAGATGCGGAACAACCCTCAGCTCTGCAGCCTGCTGCCCTTTCTACTGGGGGGAGCTGGTGGGAAATAGAGTCTGCCCTTATCATACTCAGGAGGCTGTCTAGAAGAGATAGGCTGACAGGAAGAGGCCTGGCAAGAGAGGACAGAGTGGTAAGTGAGTACCATCCAACCGGAAAGAATCTTAGACAAGACATAACACTACACACTCCTTTACAGACGGGGAAACAGCAAGGTGAAGTTCATGCCAGGATCTCACAAGACAGGTGGTGCAGGGAGAATGAAAGGAGCTCAGACTTTTTGAGTAGCTGCTACACTCCCGGCATGCTGCTGGTCCCTTCAGATACAGAATTTCTCATTTAATCCTCCCAATCACCATATATGGTATCTATTACCCCAAATTACATCCAAACCACCAAAGCCTAAAAGTTCGAGGTGCTTGCCCAAGAGCATACATCTGAGAAGTGATCAGGCTGGGATCAAGCCCCAGTCTGGCTGGCCCTGAGCCCCCTGCCTGATGTCCACCCCACCACTTCCCAGAGTTGGGGGCCAGAGCTCAGATCTGCCAGCGTCTGGGACAGGCTGTTTCAGCATCACAGGCATCACCGGGTTGCACAGCTCATGGGGCTGTGTTCACATATCTGAGTGAGAGGGAGGGCACTGGGAAGAGGCCAGGGGAGGAATGTAGGCTAGGGAGGACTCTCTGACCTGGGGTAAGGGAGAGGCTGGACAGAAGGTAGCTGGCAGGGCAGGCCTGGTGGCCTGGGGCTGGGGTATCACGGTAAGAAGGGGTGGGGGTTTGTTTGAGAACAGAGTGTATGGTAGTTCTAATTTCTGCAGAAACACATGTATGTGGACACAGAAAAGAGACCCGTTGGTTATATTAACAGTAATTATATATTAAGGCAGGGTCATAAGGGCTATTTTCTTCTTTGAACCTATCTGAGCCCTGATTTTTTTCTATGCTGTATATATAACTCACAGTGAGCAATGGAACAGACAGGAAGGAACTCGTTGAAAGCAAGAGTATGTGCTTAAAAGGACTGGACTTGCTCTGTCACTGACCTACCACTCTGTGCCCCAGAGGAGGTCACTCCATCTCTCTGGCCACCCTTTGGAGTGGGTCAAAAAATCCGGCTGATCGTCAGAATCACCAGAAGAACTTTCAAAAATATACATTGTTAGCATCTATCCTGGGAAAGTCTAATGTATCAGGTTTGGAGTAGAACCTAGAAATTTACTTTAAAAATATTTTTGAAAAAAAACCCAAATACCTCCTGAGAGAGAATAGGGAAGCTTTACATTTTGTGTTGTTCAATTCTATACTTTTTTTTTCCTTCCAAGCATGTATTACTTATAAAAATGACTTTAAAATGGTCCTTCAGTTAATTATCTCCAGGATATGTAAGTTAAAAAGCAAGTAAGAATAGTGAATATGAATTCTTTCTCTGAATACTCTTCCAGCTTTTGAATTTTGAACCTCCCTTGTATATTAACCATTATAAATAAAATAAACCATTATAAATAAGTAAAATGTAG
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Subsets and Splits
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